### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCC9) # 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}}" "ABCC9" "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" "12" "p12.1" "unknown" "LRG_377" "UD_132084508762" "" "http://www.LOVD.nl/ABCC9" "" "1" "60" "10060" "601439" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ABCC9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-18 10:58:32" "00006" "2025-11-13 13:04:16" ## 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}}" "00001877" "ABCC9" "transcript variant SUR2A" "002" "NM_005691.2" "" "NP_005682.2" "" "" "" "-20" "4650" "4650" "22089628" "21958108" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00358" "Cantu" "osteochondrodysplasia, hypertrichotic (Cantu syndrome)" "AD" "239850" "" "" "autosomal dominant" "00006" "2014-03-20 12:14:04" "00006" "2021-12-10 21:51:32" "01692" "-" "cardiomyopathy, diltaed, with hypergonadotropic hypogonadism (Malouf syndrome)" "AD" "212112" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02766" "CMD1O" "cardiomyopathy, dilated, type 1O" "AD" "608569" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-03 13:25:37" "03531" "ATFB12" "fibrillation, atrial, familial, type 12" "AD" "614050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-03 13:24:24" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "06992" "IDMYS" "intellectual disability and myopathy syndrome" "AR" "619719" "" "" "" "00006" "2023-01-03 13:23:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ABCC9" "00358" "ABCC9" "02766" "ABCC9" "03531" "ABCC9" "06992" ## Individuals ## Do not remove or alter this header ## ## Count = 71 "{{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}}" "00016141" "" "" "" "1" "" "00668" "" "" "?" "?" "Netherlands" "" "0" "" "" "white" "" "00050390" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00064737" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "49y" "0" "" "" "" "" "00081886" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081899" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081900" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081901" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081902" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081903" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081904" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081905" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081906" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081907" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081908" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081909" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081910" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081911" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081912" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081913" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081914" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081915" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081916" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081917" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081918" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081919" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081920" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00081921" "" "" "" "1" "" "01188" "" "" "" "" "" "" "0" "" "" "" "" "00128406" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "112" "00128483" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "276" "00163893" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "3-generation family, 1 affected (M), 1 unaffected (F)" "M" "" "Netherlands" "" "0" "yes" "" "white" "" "00248882" "" "" "" "6" "" "01188" "" "family, 6 affected" "F;M" "no" "Norway" "" "0" "" "" "" "" "00275986" "" "" "" "1" "" "01428" "" "" "" "" "" "" "0" "" "" "" "" "00275987" "" "" "" "1" "" "01428" "" "" "M" "" "" "53y" "0" "" "" "" "" "00275998" "" "" "" "1" "" "01428" "" "" "F" "" "" "" "0" "" "" "" "" "00275999" "" "" "" "1" "" "01428" "" "" "M" "" "" "" "0" "" "" "" "" "00276016" "" "" "" "1" "" "00006" "{PMID:Smeland 2019:31575858}" "2-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents/relatives\r\nheterozygous carriers" "F;M" "" "Norway" "" "0" "" "" "North Norway" "Fam1" "00276017" "" "" "" "1" "" "00006" "{PMID:Smeland 2019:31575858}" "2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "F;M" "" "Norway" "" "0" "" "" "North Norway" "Fam2" "00288327" "" "" "" "1" "" "01428" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00288328" "" "" "" "1" "" "01428" "" "" "M" "" "" "" "0" "" "" "" "" "00288329" "" "" "" "1" "" "01428" "" "" "F" "" "Italy" "" "0" "" "" "" "" "00288331" "" "" "" "1" "" "01428" "" "" "M" "" "" "" "0" "" "" "" "" "00290668" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290669" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295534" "" "" "" "1" "" "01428" "" "" "F" "" "(Brazil)" "" "" "" "" "" "" "00314911" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "United States" "" "0" "" "" "" "Trio113" "00317697" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317698" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317699" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317700" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317701" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317702" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317703" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317704" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00320288" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "M" "" "Australia" "" "0" "" "" "Asia-SE" "BTT1" "00417576" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00428407" "" "" "" "1" "" "03565" "" "" "" "no" "" "" "" "" "" "" "ABCC9_1" "00428408" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "ABCC9_2" "00428409" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "ABCC9_3" "00428410" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "ABCC9_4" "00435232" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00435233" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00435234" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00440420" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED1187.1" "00444319" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat90" "00446753" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat19" "00446879" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "FamLPat136" "00464670" "" "" "" "1" "" "02190" "" "" "F" "" "" "" "" "" "" "" "" "00464671" "" "" "" "1" "" "02190" "" "" "F" "" "" "" "" "" "" "" "" "00464672" "" "" "" "1" "" "02190" "" "" "F" "" "" "" "" "" "" "" "" "00464673" "" "" "" "1" "" "02190" "" "" "M" "" "" "" "" "" "" "" "" "00468578" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 71 "{{individualid}}" "{{diseaseid}}" "00016141" "00351" "00050390" "00198" "00064737" "05166" "00081886" "00358" "00081899" "00358" "00081900" "00358" "00081901" "00358" "00081902" "00358" "00081903" "00358" "00081904" "00358" "00081905" "00358" "00081906" "00358" "00081907" "00358" "00081908" "00358" "00081909" "00358" "00081910" "00358" "00081911" "00358" "00081912" "00358" "00081913" "00358" "00081914" "00358" "00081915" "00358" "00081916" "00358" "00081917" "00358" "00081918" "00358" "00081919" "00358" "00081920" "00358" "00081921" "00358" "00128406" "00198" "00128483" "00198" "00163893" "00351" "00248882" "00198" "00275986" "00358" "00275987" "00358" "00275998" "00358" "00275999" "00358" "00276016" "00198" "00276017" "00198" "00288327" "00358" "00288328" "00358" "00288329" "00358" "00288331" "00358" "00290668" "00198" "00290669" "00198" "00295534" "00198" "00314911" "00198" "00317697" "04172" "00317698" "04172" "00317699" "04172" "00317700" "04172" "00317701" "04172" "00317702" "04172" "00317703" "04172" "00317704" "04172" "00320288" "04172" "00417576" "01692" "00428407" "00198" "00428408" "00198" "00428409" "00198" "00428410" "00198" "00435232" "00198" "00435233" "00198" "00435234" "00198" "00440420" "00198" "00444319" "04214" "00446753" "04173" "00446879" "04173" "00464670" "00139" "00464671" "00139" "00464672" "00139" "00464673" "00139" "00468578" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00351, 00358, 01692, 02766, 03531, 04172, 04173, 04214, 05166, 06992 ## Count = 64 "{{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}}" "0000014926" "00351" "00016141" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000037002" "00198" "00050390" "00006" "Isolated (sporadic)" "" "global developmental delay, thick lower lip vermilion, behavioural/psychiatric abnormality, round face, generalized hirsutism, brachydactyly syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000053263" "05166" "00064737" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061497" "00358" "00081886" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061498" "00358" "00081899" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061499" "00358" "00081900" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061500" "00358" "00081901" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061501" "00358" "00081902" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061502" "00358" "00081903" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061503" "00358" "00081904" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061504" "00358" "00081905" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061505" "00358" "00081906" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061506" "00358" "00081907" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061507" "00358" "00081908" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061508" "00358" "00081909" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061509" "00358" "00081910" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061510" "00358" "00081911" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061511" "00358" "00081912" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061512" "00358" "00081913" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061513" "00358" "00081914" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061514" "00358" "00081915" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061515" "00358" "00081916" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061516" "00358" "00081917" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061517" "00358" "00081918" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061518" "00358" "00081919" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061519" "00358" "00081920" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061520" "00358" "00081921" "01188" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000100622" "00198" "00128406" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100706" "00198" "00128483" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000129005" "00351" "00163893" "02438" "Isolated (sporadic)" "62y" "paroxysmal ventricular tachycardia (HP:0004751)" "" "60y" "" "" "" "" "" "" "" "" "" "0000187849" "00198" "00248882" "01188" "Familial, X-linked recessive" "" "ABCC9-related Intellectual disability Myopathy Syndrome (AIMS)" "" "" "" "" "" "" "" "" "AIMS" "intellectual disability, myopathy" "" "0000210544" "00358" "00275986" "01428" "Isolated (sporadic)" "" "HP:0001520\r\nHP:0000256\r\nHP:0000280\r\nHP:0001714\r\nHP:0000212" "" "" "" "" "" "" "" "" "" "" "" "0000210545" "00358" "00275987" "01428" "Isolated (sporadic)" "" "HP:0001520 \r\nHP:0000256\r\nHP:0000280\r\nHP:0000212\r\nHP:0001698\r\nHP:0005113\r\nHP:0001263\r\nHP:0002240\r\nHP:0009767\r\nHP:0008386" "" "" "" "" "" "" "" "" "" "" "" "0000210553" "00358" "00275998" "01428" "Familial, autosomal dominant" "" "HP:0000280\r\nHP:0000998\r\nHP:0001643\r\nHP:0001388\r\nHP:0011342" "" "" "" "" "" "" "" "" "" "" "" "0000210554" "00358" "00275999" "01428" "Unknown" "" "HP:0000280\r\nHP:0000212\r\nHP:0000998\r\nHP:0001643\r\nHP:0011342" "" "" "" "" "" "" "" "" "" "" "" "0000210573" "00198" "00276016" "00006" "Familial, autosomal recessive" "" "see paper; ..., dysmorphic facies, intellectual disability, developmental delay, anxiety, myopathy with hypotonia, muscle weakness, fatigability" "" "" "" "" "" "" "" "" "IDMYS" "intellectual disability" "" "0000210574" "00198" "00276017" "00006" "Familial, autosomal recessive" "" "see paper; ..., dysmorphic facies, intellectual disability, developmental delay, anxiety, myopathy with hypotonia, muscle weakness, fatigability" "" "" "" "" "" "" "" "" "IDMYS" "intellectual disability" "" "0000222032" "00358" "00288327" "01428" "Isolated (sporadic)" "" "HP:0001520\r\nHP:0000256\r\nHP:0000280\r\nHP:0001714\r\nHP:0000212\r\nHP:0000998\r\nHP:0000926\r\nHP:0001388" "" "" "" "" "" "" "" "" "" "" "" "0000222033" "00358" "00288328" "01428" "Familial, autosomal dominant" "" "HP:0000256\r\nHP:0000280\r\nHP:0000212\r\nHP:0004554\r\nHP:0001644" "" "" "" "" "" "" "" "" "" "" "" "0000222034" "00358" "00288329" "01428" "Isolated (sporadic)" "" "HP:0000280\r\nHP:0000212\r\nHP:0000998\r\nHP:0001643\r\nHP:0001631\r\nHP:0002719" "" "" "" "" "" "" "" "" "" "" "" "0000222035" "00358" "00288331" "01428" "Isolated (sporadic)" "" "HP:0001520\r\nHP:0000256\r\nHP:0000280\r\nHP:0000998\r\nHP:0001714\r\nHP:0001640\r\nHP:0002719" "" "" "" "" "" "" "" "" "" "" "" "0000223099" "00198" "00295534" "01428" "Unknown" "" "HP:0000286\r\nHP:0012471" "" "" "" "" "" "" "" "" "" "" "" "0000238669" "00198" "00314911" "00006" "Isolated (sporadic)" "1y6m" "Coarse facial features, hirsutism, developmental delay, nearly absent fifth fingernails and toenails, large for gestational age, polyhydramnios, low Apgar scores, complications in the newborn period, and complications at 6 weeks of life resulting in apnea, stroke and seizures." "1d" "" "" "" "" "" "" "" "" "" "" "0000241443" "04172" "00317697" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241444" "04172" "00317698" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241445" "04172" "00317699" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241446" "04172" "00317700" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241447" "04172" "00317701" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241448" "04172" "00317702" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241449" "04172" "00317703" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241450" "04172" "00317704" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000242316" "04172" "00320288" "00006" "Unknown" "24y" "see paper; ..., survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000319313" "00198" "00428407" "03565" "Familial, autosomal recessive" "" "Seizures\r\nRhabdomyolisis" "" "" "" "" "" "" "" "" "" "Intellectual disability" "" "0000319314" "00198" "00428408" "03565" "Familial, autosomal recessive" "" "Seizures\r\nMicrocephaly" "" "" "" "" "" "" "" "" "" "Intellectual disability" "" "0000319315" "00198" "00428409" "03565" "Familial, autosomal recessive" "" "Microcephaly\r\nSpasticity" "" "" "" "" "" "" "" "" "" "Intellectual disability" "" "0000319316" "00198" "00428410" "03565" "Familial, autosomal recessive" "" "Hip dysplasia" "" "" "" "" "" "" "" "" "" "Intellectual dysability" "" "0000325431" "00198" "00435232" "03565" "Familial, autosomal recessive" "" "Developmental dela, intellectual disability, epilepsy, brain MRI abnormalities" "" "" "" "" "" "" "" "" "" "Developmental delay" "" "0000325432" "00198" "00435233" "03565" "Familial, autosomal recessive" "" "Developmental delay, intellectual disability, epilepsy, fatigability" "" "" "" "" "" "" "" "" "" "Developmental delay" "" "0000325433" "00198" "00435234" "03565" "Familial, autosomal recessive" "" "Developmental delay, intellectual disability, abnormal behavior" "" "" "" "" "" "" "" "" "" "Developmental delay" "" "0000330330" "00198" "00440420" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Cantu syndrome (MIM #239850)" "" "" "0000333572" "04214" "00444319" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "0000335957" "04173" "00446753" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336083" "04173" "00446879" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000353731" "00198" "00468578" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 71 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016263" "00016141" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" "" "0000050335" "00050390" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000064876" "00064737" "1" "01601" "01601" "2016-05-10 12:49:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000082035" "00081886" "1" "01188" "01188" "2016-11-08 09:41:49" "" "" "SEQ" "DNA" "blood" "" "0000082036" "00081899" "1" "01188" "01188" "2016-11-08 09:45:51" "" "" "SEQ" "DNA" "blood" "" "0000082037" "00081900" "1" "01188" "01188" "2016-11-08 10:03:25" "" "" "SEQ" "DNA" "blood" "" "0000082038" "00081901" "1" "01188" "01188" "2016-11-08 10:04:55" "" "" "SEQ" "DNA" "blood" "" "0000082039" "00081902" "1" "01188" "01188" "2016-11-08 10:06:19" "" "" "SEQ" "DNA" "blood" "" "0000082040" "00081903" "1" "01188" "01188" "2016-11-08 10:08:36" "" "" "SEQ" "DNA" "blood" "" "0000082041" "00081904" "1" "01188" "01188" "2016-11-08 10:13:16" "" "" "SEQ" "DNA" "blood" "" "0000082042" "00081905" "1" "01188" "01188" "2016-11-08 10:14:27" "" "" "SEQ" "DNA" "blood" "" "0000082043" "00081906" "1" "01188" "01188" "2016-11-08 10:16:16" "" "" "SEQ" "DNA" "blood" "" "0000082044" "00081907" "1" "01188" "01188" "2016-11-08 10:17:38" "" "" "SEQ" "DNA" "blood" "" "0000082045" "00081908" "1" "01188" "01188" "2016-11-08 10:19:18" "" "" "SEQ" "DNA" "blood" "" "0000082046" "00081909" "1" "01188" "01188" "2016-11-08 10:20:33" "" "" "SEQ" "DNA" "blood" "" "0000082047" "00081910" "1" "01188" "01188" "2016-11-08 10:53:20" "" "" "SEQ" "DNA" "blood" "" "0000082048" "00081911" "1" "01188" "01188" "2016-11-08 10:54:23" "" "" "SEQ" "DNA" "blood" "" "0000082049" "00081912" "1" "01188" "01188" "2016-11-08 10:55:31" "" "" "SEQ" "DNA" "blood" "" "0000082050" "00081913" "1" "01188" "01188" "2016-11-08 10:56:35" "" "" "SEQ" "DNA" "blood" "" "0000082051" "00081914" "1" "01188" "01188" "2016-11-08 10:57:45" "" "" "SEQ" "DNA" "blood" "" "0000082052" "00081915" "1" "01188" "01188" "2016-11-08 10:58:45" "" "" "SEQ" "DNA" "blood" "" "0000082053" "00081916" "1" "01188" "01188" "2016-11-08 11:00:37" "" "" "SEQ" "DNA" "blood" "" "0000082054" "00081917" "1" "01188" "01188" "2016-11-08 11:01:49" "" "" "SEQ" "DNA" "blood" "" "0000082055" "00081918" "1" "01188" "01188" "2016-11-08 11:03:04" "" "" "SEQ" "DNA" "blood" "" "0000082056" "00081919" "1" "01188" "01188" "2016-11-08 11:04:09" "" "" "SEQ" "DNA" "blood" "" "0000082057" "00081920" "1" "01188" "01188" "2016-11-08 11:05:10" "" "" "SEQ" "DNA" "blood" "" "0000082058" "00081921" "1" "01188" "01188" "2016-11-08 11:14:09" "" "" "SEQ" "DNA" "blood" "" "0000129244" "00128406" "1" "02244" "02244" "2017-09-15 15:54:34" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129321" "00128483" "1" "02244" "02244" "2017-09-15 18:54:16" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000164757" "00163893" "1" "02438" "02438" "2018-04-22 19:24:08" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000249988" "00248882" "1" "01188" "01188" "2019-07-30 11:25:37" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000277135" "00275986" "1" "01428" "01428" "2020-01-22 08:04:22" "" "" "SEQ" "DNA" "Blood" "" "0000277136" "00275987" "1" "01428" "01428" "2020-01-22 08:25:10" "" "" "SEQ" "DNA" "" "" "0000277146" "00275998" "1" "01428" "01428" "2020-01-23 09:45:56" "" "" "SEQ" "DNA" "" "" "0000277147" "00275999" "1" "01428" "01428" "2020-01-23 09:58:25" "" "" "SEQ" "DNA" "" "" "0000277164" "00276016" "1" "00006" "00006" "2020-01-23 20:06:54" "00006" "2020-01-23 20:11:06" "RT-PCR;SEQ" "DNA;RNA" "" "WGS" "0000277165" "00276017" "1" "00006" "00006" "2020-01-23 20:14:01" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000289496" "00288327" "1" "01428" "01428" "2020-02-20 07:59:20" "" "" "SEQ" "DNA" "Blood" "" "0000289497" "00288328" "1" "01428" "01428" "2020-02-20 08:08:21" "" "" "SEQ-NG" "DNA" "Blood" "" "0000289498" "00288329" "1" "01428" "01428" "2020-02-20 09:30:43" "" "" "SEQ-NG" "DNA" "Blood" "" "0000289500" "00288331" "1" "01428" "01428" "2020-02-20 09:54:56" "" "" "SEQ-NG" "DNA" "Blood" "" "0000291836" "00290668" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291837" "00290669" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296704" "00295534" "1" "01428" "01428" "2020-03-18 07:44:44" "" "" "SEQ" "DNA" "" "" "0000316085" "00314911" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000318879" "00317697" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318880" "00317698" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318881" "00317699" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318882" "00317700" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318883" "00317701" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318884" "00317702" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318885" "00317703" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318886" "00317704" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000321474" "00320288" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000418871" "00417576" "1" "01741" "01741" "2022-09-20 12:09:47" "" "" "SEQ-NG" "DNA" "" "" "0000429819" "00428407" "1" "03565" "03565" "2023-01-02 18:40:32" "" "" "SEQ-NG" "DNA" "" "" "0000429821" "00428408" "1" "03565" "03565" "2023-01-02 18:45:17" "" "" "SEQ-NG" "DNA" "" "" "0000429822" "00428409" "1" "03565" "03565" "2023-01-02 18:47:25" "" "" "SEQ-NG" "DNA" "" "" "0000429823" "00428410" "1" "03565" "03565" "2023-01-02 18:49:43" "" "" "SEQ-NG" "DNA" "" "" "0000436710" "00435232" "1" "03565" "03565" "2023-06-19 20:06:39" "" "" "SEQ-NG" "DNA" "" "" "0000436711" "00435233" "1" "03565" "03565" "2023-06-19 20:11:18" "" "" "SEQ-NG" "DNA" "" "" "0000436712" "00435234" "1" "03565" "03565" "2023-06-19 20:14:31" "" "" "SEQ-NG" "DNA" "" "" "0000441905" "00440420" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445893" "00444319" "1" "00006" "00006" "2023-12-21 19:04:03" "00006" "2023-12-21 19:29:38" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "gene panel" "0000448328" "00446753" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448454" "00446879" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466317" "00464670" "1" "02190" "02190" "2025-04-08 17:36:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000466318" "00464671" "1" "02190" "02190" "2025-04-08 17:41:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000466319" "00464672" "1" "02190" "02190" "2025-04-08 17:45:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000466320" "00464673" "1" "02190" "02190" "2025-04-08 17:46:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000470246" "00468578" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 61 "{{screeningid}}" "{{geneid}}" "0000016263" "ABCC9" "0000016263" "MYBPC3" "0000016263" "TNNT2" "0000016263" "TTN" "0000050335" "ABCC9" "0000082035" "ABCC9" "0000082036" "ABCC9" "0000082037" "ABCC9" "0000082038" "ABCC9" "0000082039" "ABCC9" "0000082040" "ABCC9" "0000082041" "ABCC9" "0000082042" "ABCC9" "0000082043" "ABCC9" "0000082044" "ABCC9" "0000082045" "ABCC9" "0000082046" "ABCC9" "0000082047" "ABCC9" "0000082048" "ABCC9" "0000082049" "ABCC9" "0000082050" "ABCC9" "0000082051" "ABCC9" "0000082052" "ABCC9" "0000082053" "ABCC9" "0000082054" "ABCC9" "0000082055" "ABCC9" "0000082056" "ABCC9" "0000082057" "ABCC9" "0000082058" "ABCC9" "0000277135" "ABCC9" "0000277135" "KCNJ16" "0000277135" "KCNJ8" "0000277136" "ABCC9" "0000277146" "ABCC9" "0000277147" "ABCC9" "0000277164" "ABCC9" "0000277165" "ABCC9" "0000289496" "ABCC9" "0000296704" "ABCC9" "0000316085" "ABCC9" "0000318879" "ABCC9" "0000318880" "ABCC9" "0000318881" "ABCC9" "0000318882" "ABCC9" "0000318883" "ABCC9" "0000318884" "ABCC9" "0000318885" "ABCC9" "0000318886" "ABCC9" "0000321474" "ABCC9" "0000321474" "APOB" "0000321474" "DSC2" "0000321474" "PKP2" "0000418871" "ABCC9" "0000429819" "ABCC9" "0000429821" "ABCC9" "0000429822" "ABCC9" "0000429823" "ABCC9" "0000466317" "ABCC9" "0000466318" "ABCC9" "0000466319" "ABCC9" "0000466320" "ABCC9" ## 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 = 511 "{{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}}" "0000036010" "1" "50" "12" "21981892" "21981892" "subst" "8.12572E-5" "00668" "ABCC9_000066" "g.21981892C>T" "" "Vrijenhoek, submitted" "" "" "" "Germline" "?" "" "0" "" "" "g.21828958C>T" "" "VUS" "" "0000079315" "0" "90" "12" "22061091" "22061091" "subst" "0" "00006" "ABCC9_000067" "g.22061091C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.21908157C>T" "" "pathogenic" "" "0000096529" "0" "50" "12" "22063188" "22063188" "subst" "0" "01601" "ABCC9_000065" "g.22063188A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134807" "0" "90" "12" "21995261" "21995261" "subst" "0" "01188" "ABCC9_000068" "g.21995261G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842327G>A" "" "pathogenic" "" "0000134808" "0" "90" "12" "21995261" "21995261" "subst" "0" "01188" "ABCC9_000068" "g.21995261G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842327G>A" "" "pathogenic" "" "0000134809" "0" "90" "12" "21995374" "21995374" "subst" "4.06233E-6" "01188" "ABCC9_000069" "g.21995374C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842440C>T" "" "pathogenic" "" "0000134810" "0" "90" "12" "21960344" "21960344" "subst" "0" "01188" "ABCC9_000078" "g.21960344G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21807410G>C" "" "pathogenic" "" "0000134811" "0" "90" "12" "21998679" "21998679" "subst" "0" "01188" "ABCC9_000073" "g.21998679T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21845745T>G" "" "pathogenic" "" "0000134812" "0" "90" "12" "21971119" "21971119" "subst" "0" "01188" "ABCC9_000080" "g.21971119C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21818185C>G" "" "pathogenic" "" "0000134813" "0" "90" "12" "21995261" "21995261" "subst" "0" "01188" "ABCC9_000068" "g.21995261G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842327G>A" "" "pathogenic" "" "0000134814" "0" "90" "12" "21995260" "21995260" "subst" "0" "01188" "ABCC9_000082" "g.21995260C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842326C>T" "" "pathogenic" "" "0000134815" "0" "90" "12" "21995261" "21995261" "subst" "0" "01188" "ABCC9_000068" "g.21995261G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842327G>A" "" "pathogenic" "" "0000134816" "0" "90" "12" "21997831" "21997831" "subst" "0" "01188" "ABCC9_000072" "g.21997831A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21844897A>G" "" "pathogenic" "" "0000134817" "0" "90" "12" "21981956" "21981956" "subst" "0" "01188" "ABCC9_000081" "g.21981956G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21829022G>A" "" "pathogenic" "" "0000134818" "0" "90" "12" "21995375" "21995375" "subst" "0" "01188" "ABCC9_000070" "g.21995375G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842441G>C" "" "pathogenic" "" "0000134819" "0" "90" "12" "21995374" "21995374" "subst" "4.06233E-6" "01188" "ABCC9_000069" "g.21995374C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842440C>T" "" "pathogenic" "" "0000134820" "0" "90" "12" "22059071" "22059071" "subst" "0" "01188" "ABCC9_000074" "g.22059071G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21906137G>A" "" "pathogenic" "" "0000134821" "0" "90" "12" "22061135" "22061135" "subst" "0" "01188" "ABCC9_000077" "g.22061135C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21908201C>A" "" "pathogenic" "" "0000134822" "0" "90" "12" "22061033" "22061033" "subst" "0" "01188" "ABCC9_000075" "g.22061033G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21908099G>A" "" "pathogenic" "" "0000134823" "0" "90" "12" "21995260" "21995260" "subst" "0" "01188" "ABCC9_000082" "g.21995260C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842326C>T" "" "pathogenic" "" "0000134824" "0" "90" "12" "21971097" "21971097" "subst" "0" "01188" "ABCC9_000079" "g.21971097A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21818163A>G" "" "pathogenic" "" "0000134825" "0" "90" "12" "21995260" "21995260" "subst" "0" "01188" "ABCC9_000082" "g.21995260C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842326C>T" "" "pathogenic" "" "0000134826" "0" "90" "12" "22061133" "22061133" "subst" "0" "01188" "ABCC9_000076" "g.22061133C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21908199C>G" "" "pathogenic" "" "0000134827" "0" "90" "12" "21995260" "21995260" "subst" "0" "01188" "ABCC9_000082" "g.21995260C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842326C>T" "" "pathogenic" "" "0000134828" "0" "90" "12" "21995375" "21995375" "subst" "0" "01188" "ABCC9_000071" "g.21995375G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842441G>A" "" "pathogenic" "" "0000134829" "0" "90" "12" "21995260" "21995260" "subst" "0" "01188" "ABCC9_000082" "g.21995260C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842326C>T" "" "pathogenic" "" "0000134830" "0" "90" "12" "21995260" "21995260" "subst" "0" "01188" "ABCC9_000082" "g.21995260C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21842326C>T" "" "pathogenic" "" "0000218389" "0" "90" "12" "22063090" "22063090" "subst" "8.5757E-5" "02244" "ABCC9_000084" "g.22063090C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.21910156C>T" "" "pathogenic" "" "0000218491" "0" "50" "12" "21991056" "21991056" "subst" "4.06395E-6" "02244" "ABCC9_000083" "g.21991056G>C" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.21838122G>C" "" "VUS" "" "0000247069" "0" "10" "12" "22063115" "22063115" "subst" "0.999266" "02330" "ABCC9_000128" "g.22063115A>G" "" "" "" "ABCC9(NM_020297.2):c.1296T>C (p.P432=), ABCC9(NM_020297.4):c.1296T>C (p.P432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910181A>G" "" "benign" "" "0000247071" "0" "10" "12" "22017422" "22017422" "subst" "0.999589" "02330" "ABCC9_000112" "g.22017422A>G" "" "" "" "ABCC9(NM_020297.2):c.2199-11T>C, ABCC9(NM_020297.4):c.2199-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21864488A>G" "" "benign" "" "0000247072" "0" "30" "12" "22025671" "22025671" "subst" "0.00241736" "02330" "ABCC9_000113" "g.22025671A>G" "" "" "" "ABCC9(NM_005691.2):c.2093-7T>C (p.(=)), ABCC9(NM_020297.2):c.2093-7T>C, ABCC9(NM_020297.4):c.2093-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21872737A>G" "" "likely benign" "" "0000247074" "0" "10" "12" "22013896" "22013896" "subst" "0.00595578" "02330" "ABCC9_000104" "g.22013896A>G" "" "" "" "ABCC9(NM_020297.2):c.2424+9T>C, ABCC9(NM_020297.4):c.2424+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21860962A>G" "" "benign" "" "0000247075" "0" "10" "12" "22066016" "22066016" "del" "0" "02330" "ABCC9_000148" "g.22066016del" "" "" "" "ABCC9(NM_005691.2):c.817-7delT (p.(=)), ABCC9(NM_020297.2):c.817-7delT, ABCC9(NM_020297.4):c.817-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913082del" "" "benign" "" "0000247078" "0" "10" "12" "21953959" "21953959" "subst" "0.00223038" "02330" "ABCC9_000085" "g.21953959A>G" "" "" "" "ABCC9(NM_020297.2):c.*19T>C, ABCC9(NM_020297.4):c.*19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21801025A>G" "" "benign" "" "0000247081" "0" "10" "12" "21971087" "21971087" "subst" "0.00208442" "02330" "ABCC9_000089" "g.21971087A>G" "" "" "" "ABCC9(NM_020297.2):c.3768T>C (p.L1256=), ABCC9(NM_020297.4):c.3768T>C (p.L1256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21818153A>G" "" "benign" "" "0000247090" "0" "10" "12" "22066027" "22066027" "del" "0" "02330" "ABCC9_000153" "g.22066027del" "" "" "" "ABCC9(NM_020297.2):c.817-18delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913093del" "" "benign" "" "0000247108" "0" "10" "12" "22089534" "22089534" "subst" "0.0001464" "02330" "ABCC9_000171" "g.22089534A>G" "" "" "" "ABCC9(NM_020297.2):c.75T>C (p.F25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21936600A>G" "" "benign" "" "0000247144" "0" "10" "12" "21991114" "21991114" "subst" "0" "02330" "ABCC9_000090" "g.21991114A>G" "" "" "" "ABCC9(NM_020297.2):c.3474-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21838180A>G" "" "benign" "" "0000247145" "0" "10" "12" "22063265" "22063265" "del" "0" "02330" "ABCC9_000133" "g.22063265del" "" "" "" "ABCC9(NM_005691.2):c.1165-6del (p.(=)), ABCC9(NM_020297.2):c.1165-6delT, ABCC9(NM_020297.4):c.1165-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910331del" "" "benign" "" "0000247146" "0" "10" "12" "22066011" "22066011" "subst" "0" "02330" "ABCC9_000149" "g.22066011A>G" "" "" "" "ABCC9(NM_020297.2):c.817-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913077A>G" "" "benign" "" "0000247147" "0" "10" "12" "22089619" "22089619" "subst" "0.0013092" "02330" "ABCC9_000173" "g.22089619A>G" "" "" "" "ABCC9(NM_020297.2):c.-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21936685A>G" "" "benign" "" "0000247184" "0" "50" "12" "22059069" "22059069" "subst" "8.13829E-6" "02330" "ABCC9_000125" "g.22059069A>T" "" "" "" "ABCC9(NM_020297.2):c.1609T>A (p.S537T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21906135A>T" "" "VUS" "" "0000247835" "0" "10" "12" "22063115" "22063115" "subst" "0.999266" "02325" "ABCC9_000128" "g.22063115A>G" "" "" "" "ABCC9(NM_020297.2):c.1296T>C (p.P432=), ABCC9(NM_020297.4):c.1296T>C (p.P432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910181A>G" "" "benign" "" "0000247848" "0" "10" "12" "22017422" "22017422" "subst" "0.999589" "02325" "ABCC9_000112" "g.22017422A>G" "" "" "" "ABCC9(NM_020297.2):c.2199-11T>C, ABCC9(NM_020297.4):c.2199-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21864488A>G" "" "benign" "" "0000247879" "0" "30" "12" "22025671" "22025671" "subst" "0.00241736" "02325" "ABCC9_000113" "g.22025671A>G" "" "" "" "ABCC9(NM_005691.2):c.2093-7T>C (p.(=)), ABCC9(NM_020297.2):c.2093-7T>C, ABCC9(NM_020297.4):c.2093-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21872737A>G" "" "likely benign" "" "0000248052" "0" "30" "12" "21953959" "21953959" "subst" "0.00223038" "02325" "ABCC9_000085" "g.21953959A>G" "" "" "" "ABCC9(NM_020297.2):c.*19T>C, ABCC9(NM_020297.4):c.*19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21801025A>G" "" "likely benign" "" "0000248063" "0" "30" "12" "22089448" "22089448" "subst" "0.000103143" "02325" "ABCC9_000167" "g.22089448A>T" "" "" "" "ABCC9(NM_020297.2):c.142+19T>A, ABCC9(NM_020297.4):c.142+19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21936514A>T" "" "likely benign" "" "0000248079" "0" "30" "12" "21971087" "21971087" "subst" "0.00208442" "02325" "ABCC9_000089" "g.21971087A>G" "" "" "" "ABCC9(NM_020297.2):c.3768T>C (p.L1256=), ABCC9(NM_020297.4):c.3768T>C (p.L1256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21818153A>G" "" "likely benign" "" "0000249165" "0" "10" "12" "22063265" "22063265" "del" "0" "02325" "ABCC9_000138" "g.22063265del" "" "" "" "ABCC9(NM_005691.2):c.1165-6del (p.(=)), ABCC9(NM_020297.2):c.1165-6delT, ABCC9(NM_020297.4):c.1165-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910331del" "" "benign" "" "0000249387" "0" "30" "12" "21958932" "21958932" "subst" "1.62722E-5" "02325" "ABCC9_000087" "g.21958932A>T" "" "" "" "ABCC9(NM_020297.4):c.4512T>A (p.A1504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21805998A>T" "" "likely benign" "" "0000249388" "0" "30" "12" "22068620" "22068620" "subst" "0.000272715" "02325" "ABCC9_000155" "g.22068620A>G" "" "" "" "ABCC9(NM_005691.2):c.798T>C (p.(Asp266=)), ABCC9(NM_020297.4):c.798T>C (p.D266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21915686A>G" "" "likely benign" "" "0000249558" "0" "30" "12" "22015871" "22015871" "subst" "2.0429E-5" "02325" "ABCC9_000105" "g.22015871A>G" "" "" "" "ABCC9(NM_020297.4):c.2339+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21862937A>G" "" "likely benign" "" "0000249559" "0" "30" "12" "22066016" "22066016" "del" "0" "02325" "ABCC9_000150" "g.22066016del" "" "" "" "ABCC9(NM_005691.2):c.817-7delT (p.(=)), ABCC9(NM_020297.2):c.817-7delT, ABCC9(NM_020297.4):c.817-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913082del" "" "likely benign" "" "0000249560" "0" "30" "12" "22089452" "22089452" "dup" "0" "02325" "ABCC9_000205" "g.22089452dup" "" "" "" "ABCC9(NM_020297.2):c.142+15dupA, ABCC9(NM_020297.4):c.142+14delTinsTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21936518dup" "" "likely benign" "" "0000249657" "0" "50" "12" "21958187" "21958187" "subst" "0" "02325" "ABCC9_000178" "g.21958187A>T" "" "" "" "ABCC9(NM_005691.4):c.4571T>A (p.L1524*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21805253A>T" "" "VUS" "" "0000249658" "0" "50" "12" "21958188" "21958188" "subst" "0" "02325" "ABCC9_000086" "g.21958188A>T" "" "" "" "ABCC9(NM_005691.4):c.4570T>A (p.L1524I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21805254A>T" "" "VUS" "" "0000249742" "0" "50" "12" "21997427" "21997427" "del" "0" "02325" "ABCC9_000092" "g.21997427del" "" "" "" "ABCC9(NM_020297.4):c.3305delT (p.I1102Tfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21844493del" "" "VUS" "" "0000249764" "0" "50" "12" "22078977" "22078977" "subst" "8.5284E-5" "02325" "ABCC9_000164" "g.22078977A>G" "" "" "" "ABCC9(NM_020297.2):c.305T>C (p.L102P), ABCC9(NM_020297.4):c.305T>C (p.L102P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21926043A>G" "" "VUS" "" "0000250617" "0" "10" "12" "22063115" "22063115" "subst" "0.999266" "02326" "ABCC9_000128" "g.22063115A>G" "" "" "" "ABCC9(NM_020297.2):c.1296T>C (p.P432=), ABCC9(NM_020297.4):c.1296T>C (p.P432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910181A>G" "" "benign" "" "0000250630" "0" "10" "12" "22017422" "22017422" "subst" "0.999589" "02326" "ABCC9_000112" "g.22017422A>G" "" "" "" "ABCC9(NM_020297.2):c.2199-11T>C, ABCC9(NM_020297.4):c.2199-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21864488A>G" "" "benign" "" "0000250661" "0" "10" "12" "22025671" "22025671" "subst" "0.00241736" "02326" "ABCC9_000113" "g.22025671A>G" "" "" "" "ABCC9(NM_005691.2):c.2093-7T>C (p.(=)), ABCC9(NM_020297.2):c.2093-7T>C, ABCC9(NM_020297.4):c.2093-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21872737A>G" "" "benign" "" "0000250681" "0" "10" "12" "22013896" "22013896" "subst" "0.00595578" "02326" "ABCC9_000104" "g.22013896A>G" "" "" "" "ABCC9(NM_020297.2):c.2424+9T>C, ABCC9(NM_020297.4):c.2424+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21860962A>G" "" "benign" "" "0000250682" "0" "10" "12" "22066016" "22066016" "del" "0" "02326" "ABCC9_000148" "g.22066016del" "" "" "" "ABCC9(NM_005691.2):c.817-7delT (p.(=)), ABCC9(NM_020297.2):c.817-7delT, ABCC9(NM_020297.4):c.817-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913082del" "" "benign" "" "0000250750" "0" "10" "12" "22065893" "22065893" "subst" "0.000386594" "02326" "ABCC9_000142" "g.22065893A>G" "" "" "" "ABCC9(NM_005691.2):c.924T>C (p.D308=), ABCC9(NM_020297.2):c.924T>C (p.D308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21912959A>G" "" "benign" "" "0000250770" "0" "30" "12" "21971087" "21971087" "subst" "0.00208442" "02326" "ABCC9_000089" "g.21971087A>G" "" "" "" "ABCC9(NM_020297.2):c.3768T>C (p.L1256=), ABCC9(NM_020297.4):c.3768T>C (p.L1256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21818153A>G" "" "likely benign" "" "0000251504" "0" "10" "12" "22016015" "22016015" "del" "0" "02326" "ABCC9_000110" "g.22016015del" "" "" "" "ABCC9(NM_005691.4):c.2238-17delT, ABCC9(NM_020297.2):c.2238-17delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21863081del" "" "benign" "" "0000251505" "0" "10" "12" "22063265" "22063265" "del" "0" "02326" "ABCC9_000134" "g.22063265del" "" "" "" "ABCC9(NM_005691.2):c.1165-6del (p.(=)), ABCC9(NM_020297.2):c.1165-6delT, ABCC9(NM_020297.4):c.1165-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910331del" "" "benign" "" "0000251746" "0" "30" "12" "22066027" "22066027" "del" "0" "02326" "ABCC9_000153" "g.22066027del" "" "" "" "ABCC9(NM_020297.2):c.817-18delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913093del" "" "likely benign" "" "0000252212" "0" "30" "12" "22028666" "22028666" "subst" "0" "02326" "ABCC9_000116" "g.22028666A>G" "" "" "" "ABCC9(NM_020297.2):c.2020-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21875732A>G" "" "likely benign" "" "0000252649" "0" "50" "12" "22048209" "22048209" "subst" "0" "02326" "ABCC9_000124" "g.22048209A>G" "" "" "" "ABCC9(NM_020297.2):c.1659T>C (p.A553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21895275A>G" "" "VUS" "" "0000252735" "0" "50" "12" "21962812" "21962812" "subst" "0" "02326" "ABCC9_000088" "g.21962812A>G" "" "" "" "ABCC9(NM_020297.2):c.4289T>C (p.M1430T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21809878A>G" "" "VUS" "" "0000252969" "0" "10" "12" "22063115" "22063115" "subst" "0.999266" "01943" "ABCC9_000128" "g.22063115A>G" "" "" "" "ABCC9(NM_020297.2):c.1296T>C (p.P432=), ABCC9(NM_020297.4):c.1296T>C (p.P432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910181A>G" "" "benign" "" "0000252982" "0" "10" "12" "22017422" "22017422" "subst" "0.999589" "01943" "ABCC9_000112" "g.22017422A>G" "" "" "" "ABCC9(NM_020297.2):c.2199-11T>C, ABCC9(NM_020297.4):c.2199-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21864488A>G" "" "benign" "" "0000253013" "0" "30" "12" "22025671" "22025671" "subst" "0.00241736" "01943" "ABCC9_000113" "g.22025671A>G" "" "" "" "ABCC9(NM_005691.2):c.2093-7T>C (p.(=)), ABCC9(NM_020297.2):c.2093-7T>C, ABCC9(NM_020297.4):c.2093-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21872737A>G" "" "likely benign" "" "0000253033" "0" "10" "12" "22013896" "22013896" "subst" "0.00595578" "01943" "ABCC9_000104" "g.22013896A>G" "" "" "" "ABCC9(NM_020297.2):c.2424+9T>C, ABCC9(NM_020297.4):c.2424+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21860962A>G" "" "benign" "" "0000253034" "0" "10" "12" "22066016" "22066016" "del" "0" "01943" "ABCC9_000148" "g.22066016del" "" "" "" "ABCC9(NM_005691.2):c.817-7delT (p.(=)), ABCC9(NM_020297.2):c.817-7delT, ABCC9(NM_020297.4):c.817-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913082del" "" "benign" "" "0000253313" "0" "10" "12" "21953959" "21953959" "subst" "0.00223038" "01943" "ABCC9_000085" "g.21953959A>G" "" "" "" "ABCC9(NM_020297.2):c.*19T>C, ABCC9(NM_020297.4):c.*19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21801025A>G" "" "benign" "" "0000253324" "0" "10" "12" "22089448" "22089448" "subst" "0.000103143" "01943" "ABCC9_000167" "g.22089448A>T" "" "" "" "ABCC9(NM_020297.2):c.142+19T>A, ABCC9(NM_020297.4):c.142+19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21936514A>T" "" "benign" "" "0000253969" "0" "30" "12" "22065893" "22065893" "subst" "0.000386594" "01943" "ABCC9_000142" "g.22065893A>G" "" "" "" "ABCC9(NM_005691.2):c.924T>C (p.D308=), ABCC9(NM_020297.2):c.924T>C (p.D308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21912959A>G" "" "likely benign" "" "0000253989" "0" "30" "12" "21971087" "21971087" "subst" "0.00208442" "01943" "ABCC9_000089" "g.21971087A>G" "" "" "" "ABCC9(NM_020297.2):c.3768T>C (p.L1256=), ABCC9(NM_020297.4):c.3768T>C (p.L1256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21818153A>G" "" "likely benign" "" "0000254238" "0" "30" "12" "21998603" "21998603" "subst" "8.13564E-5" "01943" "ABCC9_000094" "g.21998603A>G" "" "" "" "ABCC9(NM_020297.2):c.3030T>C (p.A1010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21845669A>G" "" "likely benign" "" "0000254239" "0" "30" "12" "22078880" "22078880" "subst" "0" "01943" "ABCC9_000160" "g.22078880A>G" "" "" "" "ABCC9(NM_020297.2):c.402T>C (p.L134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21925946A>G" "" "likely benign" "" "0000254240" "0" "30" "12" "22078910" "22078910" "subst" "0.00066201" "01943" "ABCC9_000161" "g.22078910A>G" "" "" "" "ABCC9(NM_001377273.1):c.372T>C (p.N124=), ABCC9(NM_020297.2):c.372T>C (p.N124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21925976A>G" "" "likely benign" "" "0000254643" "0" "30" "12" "21995390" "21995390" "subst" "8.93626E-5" "01943" "ABCC9_000091" "g.21995390A>G" "" "" "" "ABCC9(NM_005691.2):c.3331T>C (p.L1111=), ABCC9(NM_020297.2):c.3331T>C (p.L1111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842456A>G" "" "likely benign" "" "0000255180" "0" "30" "12" "22001124" "22001124" "subst" "0.00017469" "01943" "ABCC9_000096" "g.22001124A>G" "" "" "" "ABCC9(NM_020297.2):c.2826T>C (p.Y942=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21848190A>G" "" "likely benign" "" "0000255275" "0" "30" "12" "22070050" "22070050" "subst" "4.89029E-5" "01943" "ABCC9_000159" "g.22070050A>G" "" "" "" "ABCC9(NM_020297.2):c.407-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21917116A>G" "" "likely benign" "" "0000257003" "0" "10" "12" "22063868" "22063868" "subst" "0.000586367" "02330" "ABCC9_000140" "g.22063868G>A" "" "" "" "ABCC9(NM_020297.2):c.1056C>T (p.Y352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910934G>A" "" "benign" "" "0000257004" "0" "10" "12" "22063749" "22063749" "subst" "0.997627" "02330" "ABCC9_000139" "g.22063749T>C" "" "" "" "ABCC9(NM_020297.2):c.1164+11A>G, ABCC9(NM_020297.4):c.1164+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910815T>C" "" "benign" "" "0000257006" "0" "10" "12" "22063265" "22063265" "dup" "0" "02330" "ABCC9_000132" "g.22063265dup" "" "" "" "ABCC9(NM_005691.2):c.1165-6dupT (p.(=)), ABCC9(NM_020297.2):c.1165-6dupT, ABCC9(NM_020297.4):c.1165-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910331dup" "" "benign" "" "0000257009" "0" "30" "12" "22063121" "22063121" "subst" "0" "02330" "ABCC9_000129" "g.22063121C>A" "" "" "" "ABCC9(NM_020297.2):c.1290G>T (p.L430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910187C>A" "" "likely benign" "" "0000257011" "0" "50" "12" "22046998" "22046998" "subst" "6.5092E-5" "02330" "ABCC9_000123" "g.22046998C>T" "" "" "" "ABCC9(NM_020297.2):c.1770G>A (p.T590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21894064C>T" "" "VUS" "" "0000257012" "0" "30" "12" "22040886" "22040886" "subst" "8.17514E-6" "02330" "ABCC9_000121" "g.22040886C>T" "" "" "" "ABCC9(NM_020297.2):c.1803-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21887952C>T" "" "likely benign" "" "0000257013" "0" "30" "12" "22040823" "22040823" "subst" "0.00331134" "02330" "ABCC9_000120" "g.22040823G>A" "" "" "" "ABCC9(NM_001377273.1):c.1848C>T (p.D616=), ABCC9(NM_005691.2):c.1848C>T (p.(Asp616=)), ABCC9(NM_020297.2):c.1848C>T (p.D616=), ABCC9(NM_020297.4):c..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21887889G>A" "" "likely benign" "" "0000257014" "0" "10" "12" "22035787" "22035787" "subst" "0" "02330" "ABCC9_000118" "g.22035787C>T" "" "" "" "ABCC9(NM_020297.2):c.1932G>A (p.R644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21882853C>T" "" "benign" "" "0000257015" "0" "10" "12" "22028630" "22028630" "subst" "0.00084221" "02330" "ABCC9_000115" "g.22028630C>T" "" "" "" "ABCC9(NM_020297.2):c.2050G>A (p.G684S), ABCC9(NM_020297.4):c.2050G>A (p.(Gly684Ser), p.G684S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21875696C>T" "" "benign" "" "0000257016" "0" "10" "12" "22017410" "22017410" "subst" "0.00730186" "02330" "ABCC9_000111" "g.22017410C>T" "" "" "" "ABCC9(NM_020297.2):c.2200G>A (p.V734I, p.(Val734Ile)), ABCC9(NM_020297.4):c.2200G>A (p.V734I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21864476C>T" "" "benign" "" "0000257018" "0" "10" "12" "22016014" "22016015" "del" "0" "02330" "ABCC9_000109" "g.22016014_22016015del" "" "" "" "ABCC9(NM_020297.2):c.2238-18_2238-17delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21863080_21863081del" "" "benign" "" "0000257019" "0" "10" "12" "22016015" "22016015" "del" "0" "02330" "ABCC9_000110" "g.22016015del" "" "" "" "ABCC9(NM_005691.4):c.2238-17delT, ABCC9(NM_020297.2):c.2238-17delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21863081del" "" "benign" "" "0000257020" "0" "10" "12" "22005422" "22005422" "subst" "0.00321175" "02330" "ABCC9_000102" "g.22005422G>A" "" "" "" "ABCC9(NM_020297.2):c.2523C>T (p.A841=), ABCC9(NM_020297.4):c.2523C>T (p.(Ala841=), p.A841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21852488G>A" "" "benign" "" "0000257021" "0" "10" "12" "22005285" "22005285" "subst" "0.00130189" "02330" "ABCC9_000101" "g.22005285C>G" "" "" "" "ABCC9(NM_020297.2):c.2643+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21852351C>G" "" "benign" "" "0000257022" "0" "30" "12" "22005167" "22005167" "subst" "0.00672352" "02330" "ABCC9_000099" "g.22005167C>T" "" "" "" "ABCC9(NM_001377273.1):c.2644-11G>A, ABCC9(NM_020297.2):c.2644-11G>A, ABCC9(NM_020297.4):c.2644-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21852233C>T" "" "likely benign" "" "0000257023" "0" "10" "12" "22079013" "22079013" "subst" "0.0010316" "02330" "ABCC9_000165" "g.22079013C>T" "" "" "" "ABCC9(NM_020297.2):c.285-16G>A, ABCC9(NM_020297.4):c.285-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21926079C>T" "" "benign" "" "0000257024" "0" "30" "12" "22001081" "22001081" "subst" "0.000105707" "02330" "ABCC9_000095" "g.22001081T>C" "" "" "" "ABCC9(NM_020297.2):c.2866+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21848147T>C" "" "likely benign" "" "0000257025" "0" "10" "12" "21998563" "21998563" "subst" "2.44266E-5" "02330" "ABCC9_000093" "g.21998563T>C" "" "" "" "ABCC9(NM_020297.2):c.3070A>G (p.I1024V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21845629T>C" "" "benign" "" "0000257026" "0" "30" "12" "21998524" "21998524" "subst" "4.9132E-5" "02330" "ABCC9_000203" "g.21998524G>A" "" "" "" "ABCC9(NM_020297.2):c.3096+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21845590G>A" "" "likely benign" "" "0000257027" "0" "30" "12" "21995409" "21995409" "subst" "8.53568E-5" "02330" "ABCC9_000198" "g.21995409T>G" "" "" "" "ABCC9(NM_005691.4):c.3316-4A>C, ABCC9(NM_020297.2):c.3316-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842475T>G" "" "likely benign" "" "0000257028" "0" "10" "12" "21995400" "21995400" "subst" "0.00297382" "02330" "ABCC9_000197" "g.21995400G>A" "" "" "" "ABCC9(NM_020297.2):c.3321C>T (p.I1107=), ABCC9(NM_020297.4):c.3321C>T (p.(Ile1107=), p.I1107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842466G>A" "" "benign" "" "0000257030" "0" "30" "12" "21967673" "21967673" "subst" "1.22109E-5" "02330" "ABCC9_000190" "g.21967673C>T" "" "" "" "ABCC9(NM_020297.2):c.4024-17G>A, ABCC9(NM_020297.4):c.4024-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21814739C>T" "" "likely benign" "" "0000257033" "0" "30" "12" "21959009" "21959010" "del" "0" "02330" "ABCC9_000185" "g.21959009_21959010del" "" "" "" "ABCC9(NM_020297.2):c.4450-6_4450-5delTT, ABCC9(NM_020297.4):c.4450-6_4450-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21806075_21806076del" "" "likely benign" "" "0000257034" "0" "10" "12" "22068849" "22068849" "subst" "0.609868" "02330" "ABCC9_000157" "g.22068849G>T" "" "" "" "ABCC9(NM_020297.2):c.574-5C>A, ABCC9(NM_020297.4):c.574-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21915915G>T" "" "benign" "" "0000257035" "0" "10" "12" "22068629" "22068629" "subst" "0.00391986" "02330" "ABCC9_000156" "g.22068629G>A" "" "" "" "ABCC9(NM_020297.2):c.789C>T (p.C263=), ABCC9(NM_020297.4):c.789C>T (p.(Cys263=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21915695G>A" "" "benign" "" "0000257036" "0" "10" "12" "22066017" "22066017" "subst" "0" "02330" "ABCC9_000152" "g.22066017G>A" "" "" "" "ABCC9(NM_020297.2):c.817-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913083G>A" "" "benign" "" "0000257037" "0" "10" "12" "22066016" "22066016" "dup" "0" "02330" "ABCC9_000151" "g.22066016dup" "" "" "" "ABCC9(NM_020297.2):c.817-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913082dup" "" "benign" "" "0000257039" "0" "30" "12" "22065975" "22065975" "subst" "2.15093E-5" "02330" "ABCC9_000144" "g.22065975C>T" "" "" "" "ABCC9(NM_005691.2):c.842G>A (p.R281Q), ABCC9(NM_020297.2):c.842G>A (p.R281Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913041C>T" "" "likely benign" "" "0000257040" "0" "10" "12" "22089513" "22089513" "subst" "0.000105761" "02330" "ABCC9_000170" "g.22089513G>A" "" "" "" "ABCC9(NM_020297.2):c.96C>T (p.V32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21936579G>A" "" "benign" "" "0000258703" "0" "10" "12" "22063749" "22063749" "subst" "0.997627" "02325" "ABCC9_000139" "g.22063749T>C" "" "" "" "ABCC9(NM_020297.2):c.1164+11A>G, ABCC9(NM_020297.4):c.1164+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910815T>C" "" "benign" "" "0000258704" "0" "10" "12" "22068849" "22068849" "subst" "0.609868" "02325" "ABCC9_000157" "g.22068849G>T" "" "" "" "ABCC9(NM_020297.2):c.574-5C>A, ABCC9(NM_020297.4):c.574-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21915915G>T" "" "benign" "" "0000259290" "0" "30" "12" "22040823" "22040823" "subst" "0.00331134" "02325" "ABCC9_000120" "g.22040823G>A" "" "" "" "ABCC9(NM_001377273.1):c.1848C>T (p.D616=), ABCC9(NM_005691.2):c.1848C>T (p.(Asp616=)), ABCC9(NM_020297.2):c.1848C>T (p.D616=), ABCC9(NM_020297.4):c..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21887889G>A" "" "likely benign" "" "0000259291" "0" "30" "12" "22028630" "22028630" "subst" "0.00084221" "02325" "ABCC9_000115" "g.22028630C>T" "" "" "" "ABCC9(NM_020297.2):c.2050G>A (p.G684S), ABCC9(NM_020297.4):c.2050G>A (p.(Gly684Ser), p.G684S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21875696C>T" "" "likely benign" "" "0000259292" "0" "30" "12" "22017410" "22017410" "subst" "0.00730186" "02325" "ABCC9_000111" "g.22017410C>T" "" "" "" "ABCC9(NM_020297.2):c.2200G>A (p.V734I, p.(Val734Ile)), ABCC9(NM_020297.4):c.2200G>A (p.V734I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21864476C>T" "" "likely benign" "" "0000259293" "0" "30" "12" "22005422" "22005422" "subst" "0.00321175" "02325" "ABCC9_000102" "g.22005422G>A" "" "" "" "ABCC9(NM_020297.2):c.2523C>T (p.A841=), ABCC9(NM_020297.4):c.2523C>T (p.(Ala841=), p.A841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21852488G>A" "" "likely benign" "" "0000259294" "0" "30" "12" "22005167" "22005167" "subst" "0.00672352" "02325" "ABCC9_000099" "g.22005167C>T" "" "" "" "ABCC9(NM_001377273.1):c.2644-11G>A, ABCC9(NM_020297.2):c.2644-11G>A, ABCC9(NM_020297.4):c.2644-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21852233C>T" "" "likely benign" "" "0000259295" "0" "30" "12" "22079013" "22079013" "subst" "0.0010316" "02325" "ABCC9_000165" "g.22079013C>T" "" "" "" "ABCC9(NM_020297.2):c.285-16G>A, ABCC9(NM_020297.4):c.285-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21926079C>T" "" "likely benign" "" "0000259296" "0" "30" "12" "21995400" "21995400" "subst" "0.00297382" "02325" "ABCC9_000197" "g.21995400G>A" "" "" "" "ABCC9(NM_020297.2):c.3321C>T (p.I1107=), ABCC9(NM_020297.4):c.3321C>T (p.(Ile1107=), p.I1107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842466G>A" "" "likely benign" "" "0000259297" "0" "30" "12" "21967673" "21967673" "subst" "1.22109E-5" "02325" "ABCC9_000190" "g.21967673C>T" "" "" "" "ABCC9(NM_020297.2):c.4024-17G>A, ABCC9(NM_020297.4):c.4024-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21814739C>T" "" "likely benign" "" "0000259365" "0" "30" "12" "22063264" "22063265" "del" "0" "02325" "ABCC9_000137" "g.22063264_22063265del" "" "" "" "ABCC9(NM_020297.2):c.1165-7_1165-6delTT, ABCC9(NM_020297.4):c.1165-7_1165-6delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910330_21910331del" "" "likely benign" "" "0000259366" "0" "30" "12" "22089452" "22089452" "subst" "4.1177E-6" "02325" "ABCC9_000169" "g.22089452T>C" "" "" "" "ABCC9(NM_020297.4):c.142+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21936518T>C" "" "likely benign" "" "0000259367" "0" "30" "12" "22061030" "22061030" "subst" "0" "02325" "ABCC9_000127" "g.22061030T>C" "" "" "" "ABCC9(NM_020297.4):c.1436A>G (p.E479G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21908096T>C" "" "likely benign" "" "0000259368" "0" "30" "12" "22059121" "22059121" "subst" "0.000260495" "02325" "ABCC9_000126" "g.22059121C>T" "" "" "" "ABCC9(NM_020297.2):c.1557G>A (p.E519=), ABCC9(NM_020297.4):c.1557G>A (p.E519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21906187C>T" "" "likely benign" "" "0000259369" "0" "30" "12" "22040784" "22040784" "subst" "0.000203643" "02325" "ABCC9_000119" "g.22040784C>A" "" "" "" "ABCC9(NM_020297.2):c.1887G>T (p.E629D, p.(Glu629Asp)), ABCC9(NM_020297.4):c.1887G>T (p.E629D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21887850C>A" "" "likely benign" "" "0000259370" "0" "30" "12" "22035731" "22035731" "subst" "0.000223472" "02325" "ABCC9_000117" "g.22035731C>T" "" "" "" "ABCC9(NM_020297.4):c.1988G>A (p.R663H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21882797C>T" "" "likely benign" "" "0000259371" "0" "30" "12" "22005175" "22005175" "subst" "0.0011562" "02325" "ABCC9_000100" "g.22005175C>T" "" "" "" "ABCC9(NM_005691.2):c.2644-19G>A, ABCC9(NM_020297.2):c.2644-19G>A, ABCC9(NM_020297.4):c.2644-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21852241C>T" "" "likely benign" "" "0000259372" "0" "30" "12" "21981955" "21981955" "subst" "4.06072E-5" "02325" "ABCC9_000195" "g.21981955C>T" "" "" "" "ABCC9(NM_020297.4):c.3606G>A (p.T1202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21829021C>T" "" "likely benign" "" "0000259373" "0" "30" "12" "21981893" "21981893" "subst" "2.03143E-5" "02325" "ABCC9_000193" "g.21981893G>A" "" "" "" "ABCC9(NM_020297.4):c.3668C>T (p.T1223M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21828959G>A" "" "likely benign" "" "0000259374" "0" "30" "12" "21981878" "21981878" "subst" "4.06415E-6" "02325" "ABCC9_000192" "g.21981878T>C" "" "" "" "ABCC9(NM_020297.4):c.3669+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21828944T>C" "" "likely benign" "" "0000259375" "0" "30" "12" "21967618" "21967618" "subst" "9.76006E-5" "02325" "ABCC9_000188" "g.21967618C>T" "" "" "" "ABCC9(NM_020297.2):c.4062G>A (p.S1354=), ABCC9(NM_020297.4):c.4062G>A (p.S1354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21814684C>T" "" "likely benign" "" "0000259376" "0" "30" "12" "22070033" "22070033" "subst" "1.22094E-5" "02325" "ABCC9_000158" "g.22070033C>A" "" "" "" "ABCC9(NM_020297.2):c.411G>T (p.L137=), ABCC9(NM_020297.4):c.411G>T (p.L137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21917099C>A" "" "likely benign" "" "0000259377" "0" "30" "12" "21958098" "21958098" "subst" "0" "02325" "ABCC9_000176" "g.21958098T>C" "" "" "" "ABCC9(NM_020297.4):c.4512+834A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21805164T>C" "" "likely benign" "" "0000259378" "0" "30" "12" "22089561" "22089561" "subst" "7.32166E-5" "02325" "ABCC9_000172" "g.22089561G>A" "" "" "" "ABCC9(NM_020297.2):c.48C>T (p.N16=), ABCC9(NM_020297.4):c.48C>T (p.N16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21936627G>A" "" "likely benign" "" "0000259379" "0" "30" "12" "22068591" "22068591" "subst" "0.000130815" "02325" "ABCC9_000154" "g.22068591C>T" "" "" "" "ABCC9(NM_001377273.1):c.816+11G>A, ABCC9(NM_020297.4):c.816+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21915657C>T" "" "likely benign" "" "0000259603" "0" "50" "12" "22015933" "22015933" "subst" "4.06981E-6" "02325" "ABCC9_000107" "g.22015933T>C" "" "" "" "ABCC9(NM_020297.4):c.2293A>G (p.(Thr765Ala), p.T765A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21862999T>C" "" "VUS" "" "0000259604" "0" "50" "12" "22015902" "22015902" "subst" "0" "02325" "ABCC9_000106" "g.22015902G>T" "" "" "" "ABCC9(NM_020297.2):c.2324C>A (p.P775H), ABCC9(NM_020297.4):c.2324C>A (p.P775H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21862968G>T" "" "VUS" "" "0000259605" "0" "50" "12" "22012551" "22012551" "subst" "4.06336E-6" "02325" "ABCC9_000103" "g.22012551G>A" "" "" "" "ABCC9(NM_005691.2):c.2474C>T (p.A825V), ABCC9(NM_020297.4):c.2474C>T (p.A825V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21859617G>A" "" "VUS" "" "0000259606" "0" "50" "12" "22005126" "22005126" "subst" "0" "02325" "ABCC9_000098" "g.22005126T>C" "" "" "" "ABCC9(NM_020297.4):c.2674A>G (p.R892G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21852192T>C" "" "VUS" "" "0000259734" "0" "50" "12" "21958185" "21958186" "ins" "0" "02325" "ABCC9_000177" "g.21958185_21958186insA" "" "" "" "ABCC9(NM_005691.4):c.4572delAinsAT (p.V1525Cfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21805251_21805252insA" "" "VUS" "" "0000260451" "0" "10" "12" "22063749" "22063749" "subst" "0.997627" "02326" "ABCC9_000139" "g.22063749T>C" "" "" "" "ABCC9(NM_020297.2):c.1164+11A>G, ABCC9(NM_020297.4):c.1164+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910815T>C" "" "benign" "" "0000260452" "0" "10" "12" "22063264" "22063265" "del" "0" "02326" "ABCC9_000135" "g.22063264_22063265del" "" "" "" "ABCC9(NM_020297.2):c.1165-7_1165-6delTT, ABCC9(NM_020297.4):c.1165-7_1165-6delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910330_21910331del" "" "benign" "" "0000260453" "0" "30" "12" "22059121" "22059121" "subst" "0.000260495" "02326" "ABCC9_000126" "g.22059121C>T" "" "" "" "ABCC9(NM_020297.2):c.1557G>A (p.E519=), ABCC9(NM_020297.4):c.1557G>A (p.E519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21906187C>T" "" "likely benign" "" "0000260454" "0" "30" "12" "22040784" "22040784" "subst" "0.000203643" "02326" "ABCC9_000119" "g.22040784C>A" "" "" "" "ABCC9(NM_020297.2):c.1887G>T (p.E629D, p.(Glu629Asp)), ABCC9(NM_020297.4):c.1887G>T (p.E629D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21887850C>A" "" "likely benign" "" "0000260455" "0" "30" "12" "22028630" "22028630" "subst" "0.00084221" "02326" "ABCC9_000115" "g.22028630C>T" "" "" "" "ABCC9(NM_020297.2):c.2050G>A (p.G684S), ABCC9(NM_020297.4):c.2050G>A (p.(Gly684Ser), p.G684S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21875696C>T" "" "likely benign" "" "0000260456" "0" "10" "12" "22017410" "22017410" "subst" "0.00730186" "02326" "ABCC9_000111" "g.22017410C>T" "" "" "" "ABCC9(NM_020297.2):c.2200G>A (p.V734I, p.(Val734Ile)), ABCC9(NM_020297.4):c.2200G>A (p.V734I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21864476C>T" "" "benign" "" "0000260457" "0" "50" "12" "22015902" "22015902" "subst" "0" "02326" "ABCC9_000106" "g.22015902G>T" "" "" "" "ABCC9(NM_020297.2):c.2324C>A (p.P775H), ABCC9(NM_020297.4):c.2324C>A (p.P775H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21862968G>T" "" "VUS" "" "0000260458" "0" "10" "12" "22005422" "22005422" "subst" "0.00321175" "02326" "ABCC9_000102" "g.22005422G>A" "" "" "" "ABCC9(NM_020297.2):c.2523C>T (p.A841=), ABCC9(NM_020297.4):c.2523C>T (p.(Ala841=), p.A841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21852488G>A" "" "benign" "" "0000260459" "0" "10" "12" "22005167" "22005167" "subst" "0.00672352" "02326" "ABCC9_000099" "g.22005167C>T" "" "" "" "ABCC9(NM_001377273.1):c.2644-11G>A, ABCC9(NM_020297.2):c.2644-11G>A, ABCC9(NM_020297.4):c.2644-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21852233C>T" "" "benign" "" "0000260460" "0" "50" "12" "21997750" "21997750" "subst" "0" "02326" "ABCC9_000201" "g.21997750T>A" "" "" "" "ABCC9(NM_005691.2):c.3196A>T (p.K1066*), ABCC9(NM_020297.2):c.3196A>T (p.K1066*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21844816T>A" "" "VUS" "" "0000260461" "0" "90" "12" "21995375" "21995375" "subst" "0" "02326" "ABCC9_000071" "g.21995375G>A" "" "" "" "ABCC9(NM_020297.2):c.3346C>T (p.R1116C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842441G>A" "" "pathogenic" "" "0000260462" "0" "70" "12" "21995374" "21995374" "subst" "4.06233E-6" "02326" "ABCC9_000069" "g.21995374C>T" "" "" "" "ABCC9(NM_020297.2):c.3347G>A (p.R1116H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842440C>T" "" "likely pathogenic" "" "0000260463" "0" "90" "12" "21995261" "21995261" "subst" "0" "02326" "ABCC9_000068" "g.21995261G>A" "" "" "" "ABCC9(NM_020297.2):c.3460C>T (p.R1154W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842327G>A" "" "pathogenic" "" "0000260464" "0" "90" "12" "21995260" "21995260" "subst" "0" "02326" "ABCC9_000082" "g.21995260C>T" "" "" "" "ABCC9(NM_005691.2):c.3461G>A (p.(Arg1154Gln)), ABCC9(NM_020297.2):c.3461G>A (p.R1154Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842326C>T" "" "pathogenic" "" "0000260465" "0" "30" "12" "21991086" "21991086" "subst" "1.21927E-5" "02326" "ABCC9_000196" "g.21991086G>A" "" "" "" "ABCC9(NM_020297.2):c.3492C>T (p.D1164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21838152G>A" "" "likely benign" "" "0000260466" "0" "50" "12" "21967654" "21967654" "subst" "0" "02326" "ABCC9_000189" "g.21967654C>A" "" "" "" "ABCC9(NM_005691.2):c.4026G>T (p.(=)), ABCC9(NM_020297.2):c.4026G>T (p.V1342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21814720C>A" "" "VUS" "" "0000260467" "0" "70" "12" "21960344" "21960344" "subst" "0" "02326" "ABCC9_000078" "g.21960344G>C" "" "" "" "ABCC9(NM_020297.2):c.4385C>G (p.A1462G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21807410G>C" "" "likely pathogenic" "" "0000260468" "0" "10" "12" "21958916" "21958916" "subst" "0.000166851" "02326" "ABCC9_000182" "g.21958916G>A" "" "" "" "ABCC9(NM_020297.2):c.4512+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21805982G>A" "" "benign" "" "0000260469" "0" "70" "12" "21958221" "21958221" "subst" "3.66071E-5" "02326" "ABCC9_000181" "g.21958221C>T" "" "" "" "ABCC9(NM_005691.2):c.4537G>A (p.A1513T), ABCC9(NM_005691.4):c.4537G>A (p.A1513T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21805287C>T" "" "likely pathogenic" "" "0000260470" "0" "10" "12" "22068849" "22068849" "subst" "0.609868" "02326" "ABCC9_000157" "g.22068849G>T" "" "" "" "ABCC9(NM_020297.2):c.574-5C>A, ABCC9(NM_020297.4):c.574-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21915915G>T" "" "benign" "" "0000260471" "0" "30" "12" "22065975" "22065975" "subst" "2.15093E-5" "02326" "ABCC9_000144" "g.22065975C>T" "" "" "" "ABCC9(NM_005691.2):c.842G>A (p.R281Q), ABCC9(NM_020297.2):c.842G>A (p.R281Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913041C>T" "" "likely benign" "" "0000260472" "0" "30" "12" "22065828" "22065828" "subst" "0" "02326" "ABCC9_000141" "g.22065828T>C" "" "" "" "ABCC9(NM_020297.2):c.989A>G (p.N330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21912894T>C" "" "likely benign" "" "0000261678" "0" "30" "12" "22063868" "22063868" "subst" "0.000586367" "01943" "ABCC9_000140" "g.22063868G>A" "" "" "" "ABCC9(NM_020297.2):c.1056C>T (p.Y352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910934G>A" "" "likely benign" "" "0000261679" "0" "10" "12" "22063749" "22063749" "subst" "0.997627" "01943" "ABCC9_000139" "g.22063749T>C" "" "" "" "ABCC9(NM_020297.2):c.1164+11A>G, ABCC9(NM_020297.4):c.1164+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910815T>C" "" "benign" "" "0000261680" "0" "30" "12" "22063251" "22063251" "subst" "0" "01943" "ABCC9_000131" "g.22063251C>A" "" "" "" "ABCC9(NM_005691.2):c.1165-5delinsT (p.?), ABCC9(NM_020297.2):c.1165-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910317C>A" "" "likely benign" "" "0000261681" "0" "10" "12" "22063265" "22063265" "dup" "0" "01943" "ABCC9_000132" "g.22063265dup" "" "" "" "ABCC9(NM_005691.2):c.1165-6dupT (p.(=)), ABCC9(NM_020297.2):c.1165-6dupT, ABCC9(NM_020297.4):c.1165-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910331dup" "" "benign" "" "0000261683" "0" "50" "12" "22046961" "22046961" "subst" "0" "01943" "ABCC9_000122" "g.22046961C>A" "" "" "" "ABCC9(NM_020297.2):c.1802+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21894027C>A" "" "VUS" "" "0000261684" "0" "10" "12" "22040823" "22040823" "subst" "0.00331134" "01943" "ABCC9_000120" "g.22040823G>A" "" "" "" "ABCC9(NM_001377273.1):c.1848C>T (p.D616=), ABCC9(NM_005691.2):c.1848C>T (p.(Asp616=)), ABCC9(NM_020297.2):c.1848C>T (p.D616=), ABCC9(NM_020297.4):c..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21887889G>A" "" "benign" "" "0000261685" "0" "30" "12" "22040784" "22040784" "subst" "0.000203643" "01943" "ABCC9_000119" "g.22040784C>A" "" "" "" "ABCC9(NM_020297.2):c.1887G>T (p.E629D, p.(Glu629Asp)), ABCC9(NM_020297.4):c.1887G>T (p.E629D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21887850C>A" "" "likely benign" "" "0000261686" "0" "50" "12" "22086799" "22086799" "subst" "4.06266E-6" "01943" "ABCC9_000166" "g.22086799C>T" "" "" "" "ABCC9(NM_020297.2):c.201G>A (p.P67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21933865C>T" "" "VUS" "" "0000261687" "0" "30" "12" "22028630" "22028630" "subst" "0.00084221" "01943" "ABCC9_000115" "g.22028630C>T" "" "" "" "ABCC9(NM_020297.2):c.2050G>A (p.G684S), ABCC9(NM_020297.4):c.2050G>A (p.(Gly684Ser), p.G684S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21875696C>T" "" "likely benign" "" "0000261688" "0" "30" "12" "22028599" "22028599" "subst" "0.000113842" "01943" "ABCC9_000114" "g.22028599C>T" "" "" "" "ABCC9(NM_020297.2):c.2081G>A (p.R694Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21875665C>T" "" "likely benign" "" "0000261689" "0" "10" "12" "22017410" "22017410" "subst" "0.00730186" "01943" "ABCC9_000111" "g.22017410C>T" "" "" "" "ABCC9(NM_020297.2):c.2200G>A (p.V734I, p.(Val734Ile)), ABCC9(NM_020297.4):c.2200G>A (p.V734I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21864476C>T" "" "benign" "" "0000261690" "0" "10" "12" "22005422" "22005422" "subst" "0.00321175" "01943" "ABCC9_000102" "g.22005422G>A" "" "" "" "ABCC9(NM_020297.2):c.2523C>T (p.A841=), ABCC9(NM_020297.4):c.2523C>T (p.(Ala841=), p.A841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21852488G>A" "" "benign" "" "0000261691" "0" "10" "12" "22005285" "22005285" "subst" "0.00130189" "01943" "ABCC9_000101" "g.22005285C>G" "" "" "" "ABCC9(NM_020297.2):c.2643+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21852351C>G" "" "benign" "" "0000261692" "0" "10" "12" "22005003" "22005003" "subst" "0.384966" "01943" "ABCC9_000097" "g.22005003T>G" "" "" "" "ABCC9(NM_020297.2):c.2769+28A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21852069T>G" "" "benign" "" "0000261693" "0" "50" "12" "21998560" "21998560" "subst" "4.07203E-6" "01943" "ABCC9_000204" "g.21998560T>C" "" "" "" "ABCC9(NM_020297.2):c.3073A>G (p.N1025D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21845626T>C" "" "VUS" "" "0000261694" "0" "10" "12" "21997874" "21997874" "subst" "0.0328023" "01943" "ABCC9_000202" "g.21997874C>T" "" "" "" "ABCC9(NM_020297.2):c.3097-25G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21844940C>T" "" "benign" "" "0000261695" "0" "50" "12" "21997708" "21997708" "subst" "0" "01943" "ABCC9_000199" "g.21997708G>T" "" "" "" "ABCC9(NM_020297.2):c.3238C>A (p.P1080T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21844774G>T" "" "VUS" "" "0000261696" "0" "50" "12" "21997708" "21997708" "subst" "4.06445E-6" "01943" "ABCC9_000200" "g.21997708G>A" "" "" "" "ABCC9(NM_020297.2):c.3238C>T (p.P1080S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21844774G>A" "" "VUS" "" "0000261697" "0" "10" "12" "21995400" "21995400" "subst" "0.00297382" "01943" "ABCC9_000197" "g.21995400G>A" "" "" "" "ABCC9(NM_020297.2):c.3321C>T (p.I1107=), ABCC9(NM_020297.4):c.3321C>T (p.(Ile1107=), p.I1107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842466G>A" "" "benign" "" "0000261698" "0" "30" "12" "21967618" "21967618" "subst" "9.76006E-5" "01943" "ABCC9_000188" "g.21967618C>T" "" "" "" "ABCC9(NM_020297.2):c.4062G>A (p.S1354=), ABCC9(NM_020297.4):c.4062G>A (p.S1354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21814684C>T" "" "likely benign" "" "0000261699" "0" "30" "12" "22070033" "22070033" "subst" "1.22094E-5" "01943" "ABCC9_000158" "g.22070033C>A" "" "" "" "ABCC9(NM_020297.2):c.411G>T (p.L137=), ABCC9(NM_020297.4):c.411G>T (p.L137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21917099C>A" "" "likely benign" "" "0000261700" "0" "30" "12" "21960328" "21960328" "subst" "0" "01943" "ABCC9_000187" "g.21960328G>A" "" "" "" "ABCC9(NM_020297.2):c.4401C>T (p.S1467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21807394G>A" "" "likely benign" "" "0000261701" "0" "50" "12" "21958946" "21958946" "subst" "0" "01943" "ABCC9_000183" "g.21958946C>T" "" "" "" "ABCC9(NM_020297.2):c.4498G>A (p.V1500M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21806012C>T" "" "VUS" "" "0000261702" "0" "70" "12" "21958221" "21958221" "subst" "3.66071E-5" "01943" "ABCC9_000181" "g.21958221C>T" "" "" "" "ABCC9(NM_005691.2):c.4537G>A (p.A1513T), ABCC9(NM_005691.4):c.4537G>A (p.A1513T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21805287C>T" "" "likely pathogenic" "" "0000261703" "0" "50" "12" "21958194" "21958194" "subst" "0" "01943" "ABCC9_000180" "g.21958194C>G" "" "" "" "ABCC9(NM_005691.2):c.4564G>C (p.G1522R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21805260C>G" "" "VUS" "" "0000261704" "0" "50" "12" "21954058" "21954058" "subst" "0" "01943" "ABCC9_000175" "g.21954058T>C" "" "" "" "ABCC9(NM_020297.2):c.4570A>G (p.I1524V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21801124T>C" "" "VUS" "" "0000261705" "0" "10" "12" "22068849" "22068849" "subst" "0.609868" "01943" "ABCC9_000157" "g.22068849G>T" "" "" "" "ABCC9(NM_020297.2):c.574-5C>A, ABCC9(NM_020297.4):c.574-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21915915G>T" "" "benign" "" "0000261706" "0" "10" "12" "22068629" "22068629" "subst" "0.00391986" "01943" "ABCC9_000156" "g.22068629G>A" "" "" "" "ABCC9(NM_020297.2):c.789C>T (p.C263=), ABCC9(NM_020297.4):c.789C>T (p.(Cys263=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21915695G>A" "" "benign" "" "0000261708" "0" "30" "12" "22066006" "22066006" "subst" "0" "01943" "ABCC9_000147" "g.22066006G>T" "" "" "" "ABCC9(NM_020297.2):c.817-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913072G>T" "" "likely benign" "" "0000261709" "0" "30" "12" "22065975" "22065975" "subst" "2.15093E-5" "01943" "ABCC9_000144" "g.22065975C>T" "" "" "" "ABCC9(NM_005691.2):c.842G>A (p.R281Q), ABCC9(NM_020297.2):c.842G>A (p.R281Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21913041C>T" "" "likely benign" "" "0000322706" "0" "90" "12" "21995260" "21995260" "subst" "0" "01804" "ABCC9_000082" "g.21995260C>T" "" "" "" "ABCC9(NM_005691.2):c.3461G>A (p.(Arg1154Gln)), ABCC9(NM_020297.2):c.3461G>A (p.R1154Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842326C>T" "" "pathogenic" "" "0000322707" "0" "30" "12" "22025671" "22025671" "subst" "0.00241736" "01804" "ABCC9_000113" "g.22025671A>G" "" "" "" "ABCC9(NM_005691.2):c.2093-7T>C (p.(=)), ABCC9(NM_020297.2):c.2093-7T>C, ABCC9(NM_020297.4):c.2093-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21872737A>G" "" "likely benign" "" "0000322708" "0" "30" "12" "22028630" "22028630" "subst" "0.00084221" "01804" "ABCC9_000115" "g.22028630C>T" "" "" "" "ABCC9(NM_020297.2):c.2050G>A (p.G684S), ABCC9(NM_020297.4):c.2050G>A (p.(Gly684Ser), p.G684S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21875696C>T" "" "likely benign" "" "0000337521" "0" "10" "12" "22063749" "22063749" "subst" "0.997627" "02327" "ABCC9_000139" "g.22063749T>C" "" "" "" "ABCC9(NM_020297.2):c.1164+11A>G, ABCC9(NM_020297.4):c.1164+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910815T>C" "" "benign" "" "0000337522" "0" "10" "12" "22068849" "22068849" "subst" "0.609868" "02327" "ABCC9_000157" "g.22068849G>T" "" "" "" "ABCC9(NM_020297.2):c.574-5C>A, ABCC9(NM_020297.4):c.574-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21915915G>T" "" "benign" "" "0000339686" "0" "10" "12" "22063115" "22063115" "subst" "0.999266" "02327" "ABCC9_000128" "g.22063115A>G" "" "" "" "ABCC9(NM_020297.2):c.1296T>C (p.P432=), ABCC9(NM_020297.4):c.1296T>C (p.P432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21910181A>G" "" "benign" "" "0000341728" "0" "90" "12" "21995375" "21995375" "subst" "0" "02327" "ABCC9_000071" "g.21995375G>A" "" "" "" "ABCC9(NM_020297.2):c.3346C>T (p.R1116C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842441G>A" "" "pathogenic" "" "0000346505" "0" "90" "12" "22086822" "22086822" "subst" "0" "02327" "ABCC9_000174" "g.22086822G>A" "" "" "" "ABCC9(NM_001377273.1):c.178C>T (p.H60Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21933888G>A" "" "pathogenic" "" "0000368350" "21" "50" "12" "21981921" "21981921" "subst" "0" "02438" "ABCC9_000194" "g.21981921C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.21828987C>T" "" "VUS" "" "0000547484" "0" "30" "12" "21953962" "21953966" "del" "0" "02330" "ABCC9_000206" "g.21953962_21953966del" "" "" "" "ABCC9(NM_020297.2):c.*14_*18delAACAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21801028_21801032del" "" "likely benign" "" "0000547485" "0" "50" "12" "21958186" "21958187" "del" "0.000528417" "02330" "ABCC9_000207" "g.21958186_21958187del" "" "" "" "ABCC9(NM_005691.2):c.4571_4572del (p.(Leu1524CysfsTer4)), ABCC9(NM_005691.2):c.4571_4572delTA (p.L1524Cfs*4), ABCC9(NM_005691.4):c.4571_4572delTA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21805252_21805253del" "" "VUS" "" "0000547486" "0" "30" "12" "21958186" "21958187" "del" "0.000528417" "01804" "ABCC9_000207" "g.21958186_21958187del" "" "" "" "ABCC9(NM_005691.2):c.4571_4572del (p.(Leu1524CysfsTer4)), ABCC9(NM_005691.2):c.4571_4572delTA (p.L1524Cfs*4), ABCC9(NM_005691.4):c.4571_4572delTA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21805252_21805253del" "" "likely benign" "" "0000547487" "0" "50" "12" "21958186" "21958187" "del" "0.000528417" "02325" "ABCC9_000207" "g.21958186_21958187del" "" "" "" "ABCC9(NM_005691.2):c.4571_4572del (p.(Leu1524CysfsTer4)), ABCC9(NM_005691.2):c.4571_4572delTA (p.L1524Cfs*4), ABCC9(NM_005691.4):c.4571_4572delTA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21805252_21805253del" "" "VUS" "" "0000547488" "0" "50" "12" "21958186" "21958187" "del" "0.000528417" "02326" "ABCC9_000207" "g.21958186_21958187del" "" "" "" "ABCC9(NM_005691.2):c.4571_4572del (p.(Leu1524CysfsTer4)), ABCC9(NM_005691.2):c.4571_4572delTA (p.L1524Cfs*4), ABCC9(NM_005691.4):c.4571_4572delTA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21805252_21805253del" "" "VUS" "" "0000547489" "0" "50" "12" "21958186" "21958188" "delins" "0" "01943" "ABCC9_000208" "g.21958186_21958188delinsATTT" "" "" "" "ABCC9(NM_005691.2):c.4570_4572delTTAinsAAAT (p.L1524Kfs*5), ABCC9(NM_005691.4):c.4570_4572delTTAinsAAAT (p.L1524Kfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21805252_21805254delinsATTT" "" "VUS" "" "0000547490" "0" "50" "12" "21958186" "21958188" "delins" "0" "02325" "ABCC9_000208" "g.21958186_21958188delinsATTT" "" "" "" "ABCC9(NM_005691.2):c.4570_4572delTTAinsAAAT (p.L1524Kfs*5), ABCC9(NM_005691.4):c.4570_4572delTTAinsAAAT (p.L1524Kfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21805252_21805254delinsATTT" "" "VUS" "" "0000547491" "0" "50" "12" "21958188" "21958189" "ins" "0.000528365" "02325" "ABCC9_000209" "g.21958188_21958189insTTT" "" "" "" "ABCC9(NM_005691.2):c.4569_4570insAAA (p.(Ile1523_Leu1524insLys)), ABCC9(NM_005691.2):c.4569_4570insAAA (p.I1523_L1524insK), ABCC9(NM_005691.4):c.45..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21805254_21805255insTTT" "" "VUS" "" "0000547492" "0" "50" "12" "21958188" "21958189" "ins" "0.000528365" "02326" "ABCC9_000209" "g.21958188_21958189insTTT" "" "" "" "ABCC9(NM_005691.2):c.4569_4570insAAA (p.(Ile1523_Leu1524insLys)), ABCC9(NM_005691.2):c.4569_4570insAAA (p.I1523_L1524insK), ABCC9(NM_005691.4):c.45..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21805254_21805255insTTT" "" "VUS" "" "0000547494" "0" "70" "12" "21958221" "21958221" "subst" "3.66071E-5" "02325" "ABCC9_000181" "g.21958221C>T" "" "" "" "ABCC9(NM_005691.2):c.4537G>A (p.A1513T), ABCC9(NM_005691.4):c.4537G>A (p.A1513T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21805287C>T" "" "likely pathogenic" "" "0000547495" "0" "10" "12" "21959008" "21959008" "subst" "0" "02330" "ABCC9_000211" "g.21959008A>T" "" "" "" "ABCC9(NM_020297.2):c.4450-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21806074A>T" "" "benign" "" "0000547496" "0" "10" "12" "21959010" "21959011" "ins" "0.00022229" "02330" "ABCC9_000214" "g.21959010_21959011insT" "" "" "" "ABCC9(NM_020297.2):c.4450-17_4450-16insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21806076_21806077insT" "" "benign" "" "0000547497" "0" "10" "12" "21959010" "21959010" "del" "0" "02330" "ABCC9_000212" "g.21959010del" "" "" "" "ABCC9(NM_020297.2):c.4450-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21806076del" "" "benign" "" "0000547499" "0" "30" "12" "21959010" "21959010" "del" "0" "02326" "ABCC9_000212" "g.21959010del" "" "" "" "ABCC9(NM_020297.2):c.4450-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21806076del" "" "likely benign" "" "0000547500" "0" "10" "12" "21959010" "21959010" "dup" "0" "02330" "ABCC9_000213" "g.21959010dup" "" "" "" "ABCC9(NM_020297.2):c.4450-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21806076dup" "" "benign" "" "0000547502" "0" "30" "12" "21960292" "21960292" "subst" "6.91158E-5" "01943" "ABCC9_000215" "g.21960292A>G" "" "" "" "ABCC9(NM_020297.2):c.4437T>C (p.I1479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21807358A>G" "" "likely benign" "" "0000547503" "0" "30" "12" "21960340" "21960340" "subst" "8.12929E-5" "02326" "ABCC9_000216" "g.21960340A>G" "" "" "" "ABCC9(NM_020297.2):c.4389T>C (p.F1463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21807406A>G" "" "likely benign" "" "0000547504" "0" "10" "12" "21962775" "21962775" "subst" "8.22368E-6" "02330" "ABCC9_000217" "g.21962775A>G" "" "" "" "ABCC9(NM_020297.2):c.4315+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21809841A>G" "" "benign" "" "0000547505" "0" "30" "12" "21965048" "21965048" "subst" "4.06716E-6" "02326" "ABCC9_000218" "g.21965048C>T" "" "" "" "ABCC9(NM_020297.2):c.4146G>A (p.L1382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21812114C>T" "" "likely benign" "" "0000547506" "0" "30" "12" "21967618" "21967618" "subst" "9.76006E-5" "02326" "ABCC9_000188" "g.21967618C>T" "" "" "" "ABCC9(NM_020297.2):c.4062G>A (p.S1354=), ABCC9(NM_020297.4):c.4062G>A (p.S1354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21814684C>T" "" "likely benign" "" "0000547507" "0" "30" "12" "21968839" "21968839" "subst" "8.13087E-5" "01943" "ABCC9_000219" "g.21968839G>A" "" "" "" "ABCC9(NM_020297.2):c.3893-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21815905G>A" "" "likely benign" "" "0000547508" "0" "50" "12" "21970120" "21970120" "subst" "0" "02325" "ABCC9_000220" "g.21970120C>T" "" "" "" "ABCC9(NM_020297.2):c.3892+1G>A, ABCC9(NM_020297.4):c.3892+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21817186C>T" "" "VUS" "" "0000547509" "0" "50" "12" "21970251" "21970251" "subst" "0" "02330" "ABCC9_000221" "g.21970251G>T" "" "" "" "ABCC9(NM_020297.2):c.3772-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21817317G>T" "" "VUS" "" "0000547510" "0" "10" "12" "21970263" "21970263" "dup" "0" "02330" "ABCC9_000222" "g.21970263dup" "" "" "" "ABCC9(NM_020297.2):c.3772-16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21817329dup" "" "benign" "" "0000547511" "0" "30" "12" "21971128" "21971128" "subst" "0" "01943" "ABCC9_000223" "g.21971128A>T" "" "" "" "ABCC9(NM_020297.2):c.3727T>A (p.S1243T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21818194A>T" "" "likely benign" "" "0000547512" "0" "50" "12" "21981921" "21981921" "subst" "0" "02325" "ABCC9_000194" "g.21981921C>T" "" "" "" "ABCC9(NM_020297.2):c.3640G>A (p.A1214T, p.(Ala1214Thr)), ABCC9(NM_020297.4):c.3640G>A (p.A1214T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21828987C>T" "" "VUS" "" "0000547513" "0" "50" "12" "21991019" "21991019" "subst" "0" "01943" "ABCC9_000224" "g.21991019C>A" "" "" "" "ABCC9(NM_020297.2):c.3559G>T (p.A1187S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21838085C>A" "" "VUS" "" "0000547514" "0" "30" "12" "21991086" "21991086" "subst" "1.21927E-5" "01943" "ABCC9_000196" "g.21991086G>A" "" "" "" "ABCC9(NM_020297.2):c.3492C>T (p.D1164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21838152G>A" "" "likely benign" "" "0000547515" "0" "90" "12" "21995261" "21995261" "subst" "0" "02327" "ABCC9_000068" "g.21995261G>A" "" "" "" "ABCC9(NM_020297.2):c.3460C>T (p.R1154W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842327G>A" "" "pathogenic" "" "0000547516" "0" "30" "12" "21995286" "21995286" "subst" "4.06488E-6" "01943" "ABCC9_000225" "g.21995286G>T" "" "" "" "ABCC9(NM_020297.2):c.3435C>A (p.A1145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842352G>T" "" "likely benign" "" "0000547517" "0" "10" "12" "21995312" "21995312" "subst" "0.00179618" "02330" "ABCC9_000226" "g.21995312C>T" "" "" "" "ABCC9(NM_005691.2):c.3409G>A (p.(Val1137Ile)), ABCC9(NM_020297.2):c.3409G>A (p.V1137I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842378C>T" "" "benign" "" "0000547518" "0" "10" "12" "21995312" "21995312" "subst" "0.00179618" "01943" "ABCC9_000226" "g.21995312C>T" "" "" "" "ABCC9(NM_005691.2):c.3409G>A (p.(Val1137Ile)), ABCC9(NM_020297.2):c.3409G>A (p.V1137I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842378C>T" "" "benign" "" "0000547519" "0" "10" "12" "21995312" "21995312" "subst" "0.00179618" "02326" "ABCC9_000226" "g.21995312C>T" "" "" "" "ABCC9(NM_005691.2):c.3409G>A (p.(Val1137Ile)), ABCC9(NM_020297.2):c.3409G>A (p.V1137I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842378C>T" "" "benign" "" "0000547520" "0" "50" "12" "21995323" "21995323" "subst" "0" "02325" "ABCC9_000227" "g.21995323G>A" "" "" "" "ABCC9(NM_005691.2):c.3398C>T (p.P1133L), ABCC9(NM_020297.4):c.3398C>T (p.P1133L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842389G>A" "" "VUS" "" "0000547521" "0" "70" "12" "21995375" "21995375" "subst" "0" "02326" "ABCC9_000070" "g.21995375G>C" "" "" "" "ABCC9(NM_020297.2):c.3346C>G (p.R1116G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842441G>C" "" "likely pathogenic" "" "0000547522" "0" "30" "12" "21995409" "21995409" "subst" "8.53568E-5" "02327" "ABCC9_000198" "g.21995409T>G" "" "" "" "ABCC9(NM_005691.4):c.3316-4A>C, ABCC9(NM_020297.2):c.3316-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842475T>G" "" "likely benign" "" "0000547523" "0" "30" "12" "21995409" "21995409" "subst" "8.53568E-5" "01943" "ABCC9_000198" "g.21995409T>G" "" "" "" "ABCC9(NM_005691.4):c.3316-4A>C, ABCC9(NM_020297.2):c.3316-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21842475T>G" "" "likely benign" "" "0000547524" "0" "50" "12" "21997449" "21997449" "subst" "1.21926E-5" "02325" "ABCC9_000228" "g.21997449G>A" "" "" "" "ABCC9(NM_020297.4):c.3283C>T (p.R1095C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844515G>A" "" "VUS" "" "0000547525" "0" "50" "12" "21997470" "21997470" "del" "0" "02325" "ABCC9_000229" "g.21997470del" "" "" "" "ABCC9(NM_020297.4):c.3265delC (p.L1089Wfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844536del" "" "VUS" "" "0000547526" "0" "50" "12" "21997725" "21997725" "subst" "1.62559E-5" "02330" "ABCC9_000230" "g.21997725T>C" "" "" "" "ABCC9(NM_001377273.1):c.3221A>G (p.N1074S), ABCC9(NM_005691.2):c.3221A>G (p.(Asn1074Ser)), ABCC9(NM_020297.2):c.3221A>G (p.N1074S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844791T>C" "" "VUS" "" "0000547527" "0" "50" "12" "21997725" "21997725" "subst" "1.62559E-5" "01943" "ABCC9_000230" "g.21997725T>C" "" "" "" "ABCC9(NM_001377273.1):c.3221A>G (p.N1074S), ABCC9(NM_005691.2):c.3221A>G (p.(Asn1074Ser)), ABCC9(NM_020297.2):c.3221A>G (p.N1074S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844791T>C" "" "VUS" "" "0000547528" "0" "50" "12" "21997725" "21997725" "subst" "1.62559E-5" "01804" "ABCC9_000230" "g.21997725T>C" "" "" "" "ABCC9(NM_001377273.1):c.3221A>G (p.N1074S), ABCC9(NM_005691.2):c.3221A>G (p.(Asn1074Ser)), ABCC9(NM_020297.2):c.3221A>G (p.N1074S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844791T>C" "" "VUS" "" "0000547529" "0" "50" "12" "21997725" "21997725" "subst" "1.62559E-5" "02326" "ABCC9_000230" "g.21997725T>C" "" "" "" "ABCC9(NM_001377273.1):c.3221A>G (p.N1074S), ABCC9(NM_005691.2):c.3221A>G (p.(Asn1074Ser)), ABCC9(NM_020297.2):c.3221A>G (p.N1074S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844791T>C" "" "VUS" "" "0000547530" "0" "50" "12" "21997771" "21997771" "subst" "0" "02327" "ABCC9_000231" "g.21997771A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844837A>G" "" "VUS" "" "0000547531" "0" "50" "12" "21997773" "21997778" "del" "0" "02330" "ABCC9_000232" "g.21997773_21997778del" "" "" "" "ABCC9(NM_020297.2):c.3168_3173delTGTAGA (p.V1057_E1058del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844839_21844844del" "" "VUS" "" "0000547532" "0" "50" "12" "21997780" "21997782" "del" "0" "02330" "ABCC9_000233" "g.21997780_21997782del" "" "" "" "ABCC9(NM_020297.2):c.3164_3166delTCA (p.L1055_T1056delinsP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21844846_21844848del" "" "VUS" "" "0000547533" "0" "30" "12" "21998563" "21998563" "subst" "2.44266E-5" "01943" "ABCC9_000093" "g.21998563T>C" "" "" "" "ABCC9(NM_020297.2):c.3070A>G (p.I1024V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21845629T>C" "" "likely benign" "" "0000547534" "0" "30" "12" "21998563" "21998563" "subst" "2.44266E-5" "02327" "ABCC9_000093" "g.21998563T>C" "" "" "" "ABCC9(NM_020297.2):c.3070A>G (p.I1024V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21845629T>C" "" "likely benign" "" "0000547535" "0" "50" "12" "21998574" "21998574" "subst" "0" "02327" "ABCC9_000234" "g.21998574G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21845640G>A" "" "VUS" "" "0000547536" "0" "50" "12" "21998706" "21998706" "subst" "0.000109837" "02327" "ABCC9_000235" "g.21998706T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21845772T>A" "" "VUS" "" "0000547537" "0" "30" "12" "21998771" "21998771" "subst" "7.41015E-5" "02330" "ABCC9_000236" "g.21998771A>G" "" "" "" "ABCC9(NM_020297.2):c.2867-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21845837A>G" "" "likely benign" "" "0000547538" "0" "30" "12" "21998771" "21998771" "subst" "7.41015E-5" "01943" "ABCC9_000236" "g.21998771A>G" "" "" "" "ABCC9(NM_020297.2):c.2867-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21845837A>G" "" "likely benign" "" "0000547539" "0" "50" "12" "22001193" "22001193" "subst" "0.000691828" "02330" "ABCC9_000237" "g.22001193T>C" "" "" "" "ABCC9(NM_020297.2):c.2770-13A>G, ABCC9(NM_020297.4):c.2770-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21848259T>C" "" "VUS" "" "0000547540" "0" "30" "12" "22001193" "22001193" "subst" "0.000691828" "02325" "ABCC9_000237" "g.22001193T>C" "" "" "" "ABCC9(NM_020297.2):c.2770-13A>G, ABCC9(NM_020297.4):c.2770-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21848259T>C" "" "likely benign" "" "0000547541" "0" "30" "12" "22005148" "22005148" "subst" "0" "01943" "ABCC9_000238" "g.22005148G>A" "" "" "" "ABCC9(NM_020297.2):c.2652C>T (p.A884=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852214G>A" "" "likely benign" "" "0000547542" "0" "30" "12" "22005291" "22005291" "subst" "4.06759E-6" "02326" "ABCC9_000239" "g.22005291T>C" "" "" "" "ABCC9(NM_020297.2):c.2643+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852357T>C" "" "likely benign" "" "0000547543" "0" "10" "12" "22005314" "22005314" "subst" "0.0122307" "02330" "ABCC9_000240" "g.22005314C>T" "" "" "" "ABCC9(NM_020297.2):c.2631G>A (p.T877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852380C>T" "" "benign" "" "0000547544" "0" "10" "12" "22005314" "22005314" "subst" "0.0122307" "01943" "ABCC9_000240" "g.22005314C>T" "" "" "" "ABCC9(NM_020297.2):c.2631G>A (p.T877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852380C>T" "" "benign" "" "0000547546" "0" "50" "12" "22013899" "22013899" "subst" "0" "02325" "ABCC9_000241" "g.22013899G>C" "" "" "" "ABCC9(NM_020297.4):c.2424+6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21860965G>C" "" "VUS" "" "0000547547" "0" "50" "12" "22015951" "22015951" "subst" "0" "01943" "ABCC9_000242" "g.22015951G>A" "" "" "" "ABCC9(NM_020297.2):c.2275C>T (p.P759S, p.(Pro759Ser)), ABCC9(NM_020297.4):c.2275C>T (p.P759S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21863017G>A" "" "VUS" "" "0000547548" "0" "30" "12" "22015951" "22015951" "subst" "0" "02325" "ABCC9_000242" "g.22015951G>A" "" "" "" "ABCC9(NM_020297.2):c.2275C>T (p.P759S, p.(Pro759Ser)), ABCC9(NM_020297.4):c.2275C>T (p.P759S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21863017G>A" "" "likely benign" "" "0000547549" "0" "10" "12" "22015989" "22015989" "subst" "0" "02330" "ABCC9_000243" "g.22015989C>T" "" "" "" "ABCC9(NM_005691.2):c.2238-1G>A (p.?), ABCC9(NM_020297.2):c.2238-1G>A, ABCC9(NM_020297.4):c.2238-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21863055C>T" "" "benign" "" "0000547550" "0" "30" "12" "22015989" "22015989" "subst" "0" "01804" "ABCC9_000243" "g.22015989C>T" "" "" "" "ABCC9(NM_005691.2):c.2238-1G>A (p.?), ABCC9(NM_020297.2):c.2238-1G>A, ABCC9(NM_020297.4):c.2238-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21863055C>T" "" "likely benign" "" "0000547551" "0" "30" "12" "22015989" "22015989" "subst" "0" "02325" "ABCC9_000243" "g.22015989C>T" "" "" "" "ABCC9(NM_005691.2):c.2238-1G>A (p.?), ABCC9(NM_020297.2):c.2238-1G>A, ABCC9(NM_020297.4):c.2238-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21863055C>T" "" "likely benign" "" "0000547552" "0" "10" "12" "22016015" "22016015" "del" "0" "01943" "ABCC9_000110" "g.22016015del" "" "" "" "ABCC9(NM_005691.4):c.2238-17delT, ABCC9(NM_020297.2):c.2238-17delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21863081del" "" "benign" "" "0000547553" "0" "10" "12" "22016015" "22016015" "dup" "0" "02330" "ABCC9_000244" "g.22016015dup" "" "" "" "ABCC9(NM_020297.2):c.2238-17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21863081dup" "" "benign" "" "0000547554" "0" "30" "12" "22025671" "22025671" "subst" "0.00241736" "02327" "ABCC9_000113" "g.22025671A>G" "" "" "" "ABCC9(NM_005691.2):c.2093-7T>C (p.(=)), ABCC9(NM_020297.2):c.2093-7T>C, ABCC9(NM_020297.4):c.2093-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21872737A>G" "" "likely benign" "" "0000547555" "0" "50" "12" "22028657" "22028657" "subst" "0" "01943" "ABCC9_000245" "g.22028657T>C" "" "" "" "ABCC9(NM_020297.2):c.2023A>G (p.T675A), ABCC9(NM_020297.4):c.2023A>G (p.(Thr675Ala), p.T675A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21875723T>C" "" "VUS" "" "0000547556" "0" "50" "12" "22028657" "22028657" "subst" "0" "02327" "ABCC9_000245" "g.22028657T>C" "" "" "" "ABCC9(NM_020297.2):c.2023A>G (p.T675A), ABCC9(NM_020297.4):c.2023A>G (p.(Thr675Ala), p.T675A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21875723T>C" "" "VUS" "" "0000547557" "0" "50" "12" "22028657" "22028657" "subst" "0" "02325" "ABCC9_000245" "g.22028657T>C" "" "" "" "ABCC9(NM_020297.2):c.2023A>G (p.T675A), ABCC9(NM_020297.4):c.2023A>G (p.(Thr675Ala), p.T675A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21875723T>C" "" "VUS" "" "0000547558" "0" "10" "12" "22028666" "22028666" "subst" "0" "02330" "ABCC9_000116" "g.22028666A>G" "" "" "" "ABCC9(NM_020297.2):c.2020-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21875732A>G" "" "benign" "" "0000547560" "0" "30" "12" "22035805" "22035805" "subst" "0" "02327" "ABCC9_000247" "g.22035805C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21882871C>T" "" "likely benign" "" "0000547561" "0" "50" "12" "22040786" "22040786" "subst" "0" "02326" "ABCC9_000248" "g.22040786C>G" "" "" "" "ABCC9(NM_020297.2):c.1885G>C (p.E629Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21887852C>G" "" "VUS" "" "0000547562" "0" "50" "12" "22040822" "22040822" "subst" "3.66506E-5" "01943" "ABCC9_000249" "g.22040822C>T" "" "" "" "ABCC9(NM_020297.2):c.1849G>A (p.D617N), ABCC9(NM_020297.4):c.1849G>A (p.(Asp617Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21887888C>T" "" "VUS" "" "0000547563" "0" "30" "12" "22040826" "22040826" "subst" "0" "02326" "ABCC9_000250" "g.22040826A>G" "" "" "" "ABCC9(NM_020297.2):c.1845T>C (p.G615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21887892A>G" "" "likely benign" "" "0000547564" "0" "10" "12" "22047091" "22047091" "subst" "0.00231734" "02330" "ABCC9_000251" "g.22047091C>T" "" "" "" "ABCC9(NM_020297.2):c.1677G>A (p.A559=), ABCC9(NM_020297.4):c.1677G>A (p.A559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21894157C>T" "" "benign" "" "0000547565" "0" "30" "12" "22047091" "22047091" "subst" "0.00231734" "01943" "ABCC9_000251" "g.22047091C>T" "" "" "" "ABCC9(NM_020297.2):c.1677G>A (p.A559=), ABCC9(NM_020297.4):c.1677G>A (p.A559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21894157C>T" "" "likely benign" "" "0000547566" "0" "30" "12" "22047091" "22047091" "subst" "0.00231734" "02325" "ABCC9_000251" "g.22047091C>T" "" "" "" "ABCC9(NM_020297.2):c.1677G>A (p.A559=), ABCC9(NM_020297.4):c.1677G>A (p.A559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21894157C>T" "" "likely benign" "" "0000547567" "0" "10" "12" "22048191" "22048191" "subst" "8.16573E-6" "02330" "ABCC9_000252" "g.22048191A>G" "" "" "" "ABCC9(NM_020297.2):c.1659+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21895257A>G" "" "benign" "" "0000547568" "0" "30" "12" "22059121" "22059121" "subst" "0.000260495" "01943" "ABCC9_000126" "g.22059121C>T" "" "" "" "ABCC9(NM_020297.2):c.1557G>A (p.E519=), ABCC9(NM_020297.4):c.1557G>A (p.E519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21906187C>T" "" "likely benign" "" "0000547569" "0" "30" "12" "22061050" "22061050" "subst" "1.22209E-5" "01943" "ABCC9_000253" "g.22061050A>G" "" "" "" "ABCC9(NM_020297.2):c.1416T>C (p.F472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21908116A>G" "" "likely benign" "" "0000547570" "0" "30" "12" "22061050" "22061050" "subst" "1.22209E-5" "02326" "ABCC9_000253" "g.22061050A>G" "" "" "" "ABCC9(NM_020297.2):c.1416T>C (p.F472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21908116A>G" "" "likely benign" "" "0000547571" "0" "50" "12" "22063155" "22063155" "subst" "4.07203E-6" "02330" "ABCC9_000254" "g.22063155A>G" "" "" "" "ABCC9(NM_020297.2):c.1256T>C (p.I419T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910221A>G" "" "VUS" "" "0000547572" "0" "50" "12" "22063225" "22063225" "subst" "0" "02327" "ABCC9_000255" "g.22063225G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910291G>T" "" "VUS" "" "0000547573" "0" "30" "12" "22063247" "22063247" "subst" "0" "01804" "ABCC9_000256" "g.22063247C>A" "" "" "" "ABCC9(NM_005691.2):c.1165-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910313C>A" "" "likely benign" "" "0000547574" "0" "30" "12" "22063248" "22063248" "subst" "0" "01804" "ABCC9_000257" "g.22063248T>A" "" "" "" "ABCC9(NM_005691.2):c.1165-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910314T>A" "" "likely benign" "" "0000547575" "0" "30" "12" "22063250" "22063250" "subst" "0" "01804" "ABCC9_000258" "g.22063250C>A" "" "" "" "ABCC9(NM_005691.2):c.1165-4G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910316C>A" "" "likely benign" "" "0000547576" "0" "30" "12" "22063251" "22063251" "subst" "0" "01804" "ABCC9_000131" "g.22063251C>A" "" "" "" "ABCC9(NM_005691.2):c.1165-5delinsT (p.?), ABCC9(NM_020297.2):c.1165-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910317C>A" "" "likely benign" "" "0000547577" "0" "10" "12" "22063263" "22063265" "del" "0" "02330" "ABCC9_000259" "g.22063263_22063265del" "" "" "" "ABCC9(NM_020297.2):c.1165-8_1165-6delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910329_21910331del" "" "benign" "" "0000547578" "0" "10" "12" "22063264" "22063265" "del" "0" "02330" "ABCC9_000135" "g.22063264_22063265del" "" "" "" "ABCC9(NM_020297.2):c.1165-7_1165-6delTT, ABCC9(NM_020297.4):c.1165-7_1165-6delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910330_21910331del" "" "benign" "" "0000547580" "0" "10" "12" "22063265" "22063265" "del" "0" "01943" "ABCC9_000133" "g.22063265del" "" "" "" "ABCC9(NM_005691.2):c.1165-6del (p.(=)), ABCC9(NM_020297.2):c.1165-6delT, ABCC9(NM_020297.4):c.1165-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910331del" "" "benign" "" "0000547581" "0" "30" "12" "22063265" "22063265" "del" "0" "01804" "ABCC9_000133" "g.22063265del" "" "" "" "ABCC9(NM_005691.2):c.1165-6del (p.(=)), ABCC9(NM_020297.2):c.1165-6delT, ABCC9(NM_020297.4):c.1165-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910331del" "" "likely benign" "" "0000547582" "0" "10" "12" "22063265" "22063265" "dup" "0" "02327" "ABCC9_000132" "g.22063265dup" "" "" "" "ABCC9(NM_005691.2):c.1165-6dupT (p.(=)), ABCC9(NM_020297.2):c.1165-6dupT, ABCC9(NM_020297.4):c.1165-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910331dup" "" "benign" "" "0000547583" "0" "10" "12" "22063265" "22063265" "dup" "0" "02326" "ABCC9_000132" "g.22063265dup" "" "" "" "ABCC9(NM_005691.2):c.1165-6dupT (p.(=)), ABCC9(NM_020297.2):c.1165-6dupT, ABCC9(NM_020297.4):c.1165-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910331dup" "" "benign" "" "0000547584" "0" "30" "12" "22063265" "22063265" "dup" "0" "01804" "ABCC9_000132" "g.22063265dup" "" "" "" "ABCC9(NM_005691.2):c.1165-6dupT (p.(=)), ABCC9(NM_020297.2):c.1165-6dupT, ABCC9(NM_020297.4):c.1165-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910331dup" "" "likely benign" "" "0000547585" "0" "10" "12" "22063265" "22063265" "dup" "0" "02325" "ABCC9_000132" "g.22063265dup" "" "" "" "ABCC9(NM_005691.2):c.1165-6dupT (p.(=)), ABCC9(NM_020297.2):c.1165-6dupT, ABCC9(NM_020297.4):c.1165-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910331dup" "" "benign" "" "0000547586" "0" "10" "12" "22063737" "22063737" "subst" "0.997626" "01943" "ABCC9_000260" "g.22063737G>T" "" "" "" "ABCC9(NM_020297.2):c.1164+23C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000547587" "0" "10" "12" "22063737" "22063737" "subst" "0.997626" "02326" "ABCC9_000260" "g.22063737G>T" "" "" "" "ABCC9(NM_020297.2):c.1164+23C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000547588" "0" "30" "12" "22063832" "22063832" "subst" "4.07368E-6" "02330" "ABCC9_000261" "g.22063832C>A" "" "" "" "ABCC9(NM_020297.2):c.1092G>T (p.L364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910898C>A" "" "likely benign" "" "0000547589" "0" "50" "12" "22063832" "22063832" "subst" "4.07368E-6" "01943" "ABCC9_000261" "g.22063832C>A" "" "" "" "ABCC9(NM_020297.2):c.1092G>T (p.L364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910898C>A" "" "VUS" "" "0000547590" "0" "30" "12" "22065860" "22065860" "subst" "4.47649E-5" "02326" "ABCC9_000262" "g.22065860A>G" "" "" "" "ABCC9(NM_020297.2):c.957T>C (p.S319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21912926A>G" "" "likely benign" "" "0000547591" "0" "50" "12" "22065945" "22065946" "dup" "0" "01943" "ABCC9_000263" "g.22065945_22065946dup" "" "" "" "ABCC9(NM_020297.2):c.873_874dupAG (p.A292Efs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21913011_21913012dup" "" "VUS" "" "0000547593" "0" "50" "12" "22066000" "22066000" "dup" "0" "02325" "ABCC9_000264" "g.22066000dup" "" "" "" "ABCC9(NM_020297.4):c.822dupA (p.V275Sfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21913066dup" "" "VUS" "" "0000547594" "0" "30" "12" "22066003" "22066003" "subst" "0" "01943" "ABCC9_000145" "g.22066003G>A" "" "" "" "ABCC9(NM_020297.2):c.817-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21913069G>A" "" "likely benign" "" "0000547595" "0" "30" "12" "22066016" "22066016" "del" "0" "01804" "ABCC9_000148" "g.22066016del" "" "" "" "ABCC9(NM_005691.2):c.817-7delT (p.(=)), ABCC9(NM_020297.2):c.817-7delT, ABCC9(NM_020297.4):c.817-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21913082del" "" "likely benign" "" "0000547596" "0" "10" "12" "22066027" "22066027" "dup" "0" "02330" "ABCC9_000265" "g.22066027dup" "" "" "" "ABCC9(NM_020297.2):c.817-18dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21913093dup" "" "benign" "" "0000547597" "0" "10" "12" "22066027" "22066027" "dup" "0" "01943" "ABCC9_000265" "g.22066027dup" "" "" "" "ABCC9(NM_020297.2):c.817-18dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21913093dup" "" "benign" "" "0000547598" "0" "10" "12" "22066027" "22066027" "dup" "0" "02326" "ABCC9_000265" "g.22066027dup" "" "" "" "ABCC9(NM_020297.2):c.817-18dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21913093dup" "" "benign" "" "0000547599" "0" "10" "12" "22070051" "22070051" "subst" "0.00313558" "02330" "ABCC9_000266" "g.22070051G>T" "" "" "" "ABCC9(NM_020297.2):c.407-14C>A, ABCC9(NM_020297.4):c.407-14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21917117G>T" "" "benign" "" "0000547600" "0" "10" "12" "22070051" "22070051" "subst" "0.00313558" "01943" "ABCC9_000266" "g.22070051G>T" "" "" "" "ABCC9(NM_020297.2):c.407-14C>A, ABCC9(NM_020297.4):c.407-14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21917117G>T" "" "benign" "" "0000547601" "0" "30" "12" "22070051" "22070051" "subst" "0.00313558" "02325" "ABCC9_000266" "g.22070051G>T" "" "" "" "ABCC9(NM_020297.2):c.407-14C>A, ABCC9(NM_020297.4):c.407-14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21917117G>T" "" "likely benign" "" "0000547602" "0" "10" "12" "22070051" "22070051" "subst" "0.00313558" "02326" "ABCC9_000266" "g.22070051G>T" "" "" "" "ABCC9(NM_020297.2):c.407-14C>A, ABCC9(NM_020297.4):c.407-14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21917117G>T" "" "benign" "" "0000547603" "0" "30" "12" "22078910" "22078910" "subst" "0.00066201" "02330" "ABCC9_000161" "g.22078910A>G" "" "" "" "ABCC9(NM_001377273.1):c.372T>C (p.N124=), ABCC9(NM_020297.2):c.372T>C (p.N124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21925976A>G" "" "likely benign" "" "0000547604" "0" "10" "12" "22078910" "22078910" "subst" "0.00066201" "02327" "ABCC9_000161" "g.22078910A>G" "" "" "" "ABCC9(NM_001377273.1):c.372T>C (p.N124=), ABCC9(NM_020297.2):c.372T>C (p.N124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21925976A>G" "" "benign" "" "0000547606" "0" "50" "12" "22078977" "22078977" "subst" "8.5284E-5" "01943" "ABCC9_000164" "g.22078977A>G" "" "" "" "ABCC9(NM_020297.2):c.305T>C (p.L102P), ABCC9(NM_020297.4):c.305T>C (p.L102P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21926043A>G" "" "VUS" "" "0000547607" "0" "30" "12" "22078992" "22078992" "subst" "0" "01804" "ABCC9_000268" "g.22078992C>T" "" "" "" "ABCC9(NM_005691.2):c.290G>A (p.(Arg97Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21926058C>T" "" "likely benign" "" "0000547608" "0" "10" "12" "22079013" "22079013" "subst" "0.0010316" "02326" "ABCC9_000165" "g.22079013C>T" "" "" "" "ABCC9(NM_020297.2):c.285-16G>A, ABCC9(NM_020297.4):c.285-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21926079C>T" "" "benign" "" "0000547609" "0" "50" "12" "22086744" "22086744" "subst" "0" "02325" "ABCC9_000269" "g.22086744C>T" "" "" "" "ABCC9(NM_020297.4):c.256G>A (p.E86K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21933810C>T" "" "VUS" "" "0000547610" "0" "10" "12" "22089452" "22089452" "dup" "0" "02330" "ABCC9_000205" "g.22089452dup" "" "" "" "ABCC9(NM_020297.2):c.142+15dupA, ABCC9(NM_020297.4):c.142+14delTinsTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21936518dup" "" "benign" "" "0000547611" "0" "30" "12" "22089452" "22089452" "dup" "0" "01943" "ABCC9_000205" "g.22089452dup" "" "" "" "ABCC9(NM_020297.2):c.142+15dupA, ABCC9(NM_020297.4):c.142+14delTinsTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21936518dup" "" "likely benign" "" "0000547612" "0" "30" "12" "22089561" "22089561" "subst" "7.32166E-5" "01943" "ABCC9_000172" "g.22089561G>A" "" "" "" "ABCC9(NM_020297.2):c.48C>T (p.N16=), ABCC9(NM_020297.4):c.48C>T (p.N16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21936627G>A" "" "likely benign" "" "0000579068" "0" "90" "12" "22063090" "22063090" "subst" "8.5757E-5" "01188" "ABCC9_000084" "g.22063090C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.21910156C>T" "" "pathogenic (recessive)" "" "0000614003" "0" "30" "12" "21953990" "21953990" "subst" "8.13326E-5" "02327" "ABCC9_000270" "g.21953990G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21801056G>A" "" "likely benign" "" "0000614004" "0" "50" "12" "21958188" "21958189" "ins" "0.000528365" "01804" "ABCC9_000209" "g.21958188_21958189insTTT" "" "" "" "ABCC9(NM_005691.2):c.4569_4570insAAA (p.(Ile1523_Leu1524insLys)), ABCC9(NM_005691.2):c.4569_4570insAAA (p.I1523_L1524insK), ABCC9(NM_005691.4):c.45..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21805254_21805255insTTT" "" "VUS" "" "0000614005" "0" "30" "12" "21958925" "21958925" "subst" "3.66113E-5" "02327" "ABCC9_000271" "g.21958925T>C" "" "" "" "ABCC9(NM_020297.2):c.4512+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21805991T>C" "" "likely benign" "" "0000614006" "0" "30" "12" "21958925" "21958925" "subst" "3.66113E-5" "02326" "ABCC9_000271" "g.21958925T>C" "" "" "" "ABCC9(NM_020297.2):c.4512+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21805991T>C" "" "likely benign" "" "0000614007" "0" "30" "12" "21965005" "21965005" "subst" "8.13365E-6" "02327" "ABCC9_000272" "g.21965005T>C" "" "" "" "ABCC9(NM_005691.4):c.4189A>G (p.I1397V), ABCC9(NM_020297.2):c.4189A>G (p.I1397V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21812071T>C" "" "likely benign" "" "0000614008" "0" "30" "12" "21967654" "21967654" "subst" "0" "01804" "ABCC9_000189" "g.21967654C>A" "" "" "" "ABCC9(NM_005691.2):c.4026G>T (p.(=)), ABCC9(NM_020297.2):c.4026G>T (p.V1342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21814720C>A" "" "likely benign" "" "0000614009" "0" "50" "12" "21968714" "21968714" "subst" "0" "02327" "ABCC9_000273" "g.21968714T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21815780T>G" "" "VUS" "" "0000614010" "0" "30" "12" "21981892" "21981892" "subst" "8.12572E-5" "02327" "ABCC9_000066" "g.21981892C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21828958C>T" "" "likely benign" "" "0000614011" "0" "50" "12" "21981921" "21981921" "subst" "0" "02330" "ABCC9_000194" "g.21981921C>T" "" "" "" "ABCC9(NM_020297.2):c.3640G>A (p.A1214T, p.(Ala1214Thr)), ABCC9(NM_020297.4):c.3640G>A (p.A1214T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21828987C>T" "" "VUS" "" "0000614012" "0" "50" "12" "21991099" "21991099" "subst" "8.12889E-6" "01943" "ABCC9_000275" "g.21991099A>C" "" "" "" "ABCC9(NM_020297.2):c.3479T>G (p.L1160R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21838165A>C" "" "VUS" "" "0000614013" "0" "30" "12" "22001085" "22001085" "subst" "0" "02327" "ABCC9_000276" "g.22001085T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21848151T>A" "" "likely benign" "" "0000614014" "0" "10" "12" "22005167" "22005167" "subst" "0.00672352" "02327" "ABCC9_000099" "g.22005167C>T" "" "" "" "ABCC9(NM_001377273.1):c.2644-11G>A, ABCC9(NM_020297.2):c.2644-11G>A, ABCC9(NM_020297.4):c.2644-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852233C>T" "" "benign" "" "0000614015" "0" "30" "12" "22005346" "22005346" "subst" "1.62686E-5" "02327" "ABCC9_000278" "g.22005346C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852412C>T" "" "likely benign" "" "0000614016" "0" "10" "12" "22005422" "22005422" "subst" "0.00321175" "02327" "ABCC9_000102" "g.22005422G>A" "" "" "" "ABCC9(NM_020297.2):c.2523C>T (p.A841=), ABCC9(NM_020297.4):c.2523C>T (p.(Ala841=), p.A841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21852488G>A" "" "benign" "" "0000614017" "0" "30" "12" "22015951" "22015951" "subst" "0" "02327" "ABCC9_000242" "g.22015951G>A" "" "" "" "ABCC9(NM_020297.2):c.2275C>T (p.P759S, p.(Pro759Ser)), ABCC9(NM_020297.4):c.2275C>T (p.P759S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21863017G>A" "" "likely benign" "" "0000614018" "0" "30" "12" "22016004" "22016004" "subst" "0" "02327" "ABCC9_000279" "g.22016004G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21863070G>A" "" "likely benign" "" "0000614020" "0" "30" "12" "22040762" "22040762" "subst" "4.07428E-5" "02327" "ABCC9_000280" "g.22040762C>T" "" "" "" "ABCC9(NM_020297.2):c.1909G>A (p.V637I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21887828C>T" "" "likely benign" "" "0000614021" "0" "30" "12" "22040784" "22040784" "subst" "0.000203643" "02327" "ABCC9_000119" "g.22040784C>A" "" "" "" "ABCC9(NM_020297.2):c.1887G>T (p.E629D, p.(Glu629Asp)), ABCC9(NM_020297.4):c.1887G>T (p.E629D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21887850C>A" "" "likely benign" "" "0000614022" "0" "50" "12" "22040813" "22040813" "subst" "1.22197E-5" "02327" "ABCC9_000281" "g.22040813G>A" "" "" "" "ABCC9(NM_020297.2):c.1858C>T (p.R620*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21887879G>A" "" "VUS" "" "0000614023" "0" "30" "12" "22040886" "22040886" "subst" "8.17514E-6" "02327" "ABCC9_000121" "g.22040886C>T" "" "" "" "ABCC9(NM_020297.2):c.1803-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21887952C>T" "" "likely benign" "" "0000614024" "0" "10" "12" "22059076" "22059076" "subst" "4.06861E-5" "02330" "ABCC9_000282" "g.22059076T>C" "" "" "" "ABCC9(NM_020297.2):c.1602A>G (p.L534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21906142T>C" "" "benign" "" "0000614025" "0" "30" "12" "22061050" "22061050" "subst" "1.22209E-5" "02327" "ABCC9_000253" "g.22061050A>G" "" "" "" "ABCC9(NM_020297.2):c.1416T>C (p.F472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21908116A>G" "" "likely benign" "" "0000614026" "0" "30" "12" "22061101" "22061101" "subst" "0" "01943" "ABCC9_000283" "g.22061101A>G" "" "" "" "ABCC9(NM_020297.2):c.1365T>C (p.S455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21908167A>G" "" "likely benign" "" "0000614027" "0" "50" "12" "22063133" "22063133" "subst" "4.07528E-6" "02327" "ABCC9_000284" "g.22063133C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910199C>A" "" "VUS" "" "0000614028" "0" "30" "12" "22063251" "22063251" "subst" "0" "02327" "ABCC9_000131" "g.22063251C>A" "" "" "" "ABCC9(NM_005691.2):c.1165-5delinsT (p.?), ABCC9(NM_020297.2):c.1165-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910317C>A" "" "likely benign" "" "0000614029" "0" "30" "12" "22063787" "22063787" "subst" "0" "02327" "ABCC9_000285" "g.22063787A>G" "" "" "" "ABCC9(NM_020297.2):c.1137T>C (p.T379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21910853A>G" "" "likely benign" "" "0000614030" "0" "10" "12" "22065893" "22065893" "subst" "0.000386594" "02327" "ABCC9_000142" "g.22065893A>G" "" "" "" "ABCC9(NM_005691.2):c.924T>C (p.D308=), ABCC9(NM_020297.2):c.924T>C (p.D308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21912959A>G" "" "benign" "" "0000614031" "0" "10" "12" "22068629" "22068629" "subst" "0.00391986" "02327" "ABCC9_000156" "g.22068629G>A" "" "" "" "ABCC9(NM_020297.2):c.789C>T (p.C263=), ABCC9(NM_020297.4):c.789C>T (p.(Cys263=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21915695G>A" "" "benign" "" "0000614032" "0" "10" "12" "22070051" "22070051" "subst" "0.00313558" "02327" "ABCC9_000266" "g.22070051G>T" "" "" "" "ABCC9(NM_020297.2):c.407-14C>A, ABCC9(NM_020297.4):c.407-14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21917117G>T" "" "benign" "" "0000614033" "0" "30" "12" "22089561" "22089561" "subst" "7.32166E-5" "02327" "ABCC9_000172" "g.22089561G>A" "" "" "" "ABCC9(NM_020297.2):c.48C>T (p.N16=), ABCC9(NM_020297.4):c.48C>T (p.N16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21936627G>A" "" "likely benign" "" "0000622852" "0" "30" "12" "21959009" "21959010" "del" "0" "02325" "ABCC9_000185" "g.21959009_21959010del" "" "" "" "ABCC9(NM_020297.2):c.4450-6_4450-5delTT, ABCC9(NM_020297.4):c.4450-6_4450-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21806075_21806076del" "" "likely benign" "" "0000622853" "0" "10" "12" "21968727" "21968727" "subst" "1.21978E-5" "02330" "ABCC9_000274" "g.21968727G>A" "" "" "" "ABCC9(NM_020297.2):c.3993C>T (p.H1331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21815793G>A" "" "benign" "" "0000622854" "0" "30" "12" "21968727" "21968727" "subst" "1.21978E-5" "01943" "ABCC9_000274" "g.21968727G>A" "" "" "" "ABCC9(NM_020297.2):c.3993C>T (p.H1331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21815793G>A" "" "likely benign" "" "0000622855" "0" "30" "12" "22001094" "22001094" "subst" "2.43815E-5" "02326" "ABCC9_000277" "g.22001094G>A" "" "" "" "ABCC9(NM_020297.2):c.2856C>T (p.D952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21848160G>A" "" "likely benign" "" "0000622856" "0" "70" "12" "22040813" "22040813" "subst" "1.22197E-5" "02329" "ABCC9_000281" "g.22040813G>A" "" "" "" "ABCC9(NM_020297.2):c.1858C>T (p.R620*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21887879G>A" "" "likely pathogenic" "" "0000622857" "0" "30" "12" "22078910" "22078910" "subst" "0.00066201" "02326" "ABCC9_000161" "g.22078910A>G" "" "" "" "ABCC9(NM_001377273.1):c.372T>C (p.N124=), ABCC9(NM_020297.2):c.372T>C (p.N124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21925976A>G" "" "likely benign" "" "0000631867" "0" "70" "12" "21997756" "21997756" "subst" "0" "01428" "ABCC9_000286" "g.21997756C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.21844822C>G" "" "pathogenic (dominant)" "" "0000631868" "0" "90" "12" "21995260" "21995260" "subst" "0" "01428" "ABCC9_000082" "g.21995260C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.21842326C>T" "" "pathogenic (dominant)" "" "0000631876" "10" "90" "12" "21981956" "21981956" "subst" "0" "01428" "ABCC9_000081" "g.21981956G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.21829022G>A" "" "pathogenic (dominant)" "" "0000631877" "0" "90" "12" "21981956" "21981956" "subst" "0" "01428" "ABCC9_000081" "g.21981956G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.21829022G>A" "" "pathogenic (dominant)" "" "0000631908" "3" "90" "12" "22063090" "22063090" "subst" "8.5757E-5" "00006" "ABCC9_000084" "g.22063090C>T" "" "{PMID:Smeland 2019:31575858}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21910156C>T" "" "pathogenic (recessive)" "" "0000631909" "3" "90" "12" "22063090" "22063090" "subst" "8.5757E-5" "00006" "ABCC9_000084" "g.22063090C>T" "" "{PMID:Smeland 2019:31575858}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21910156C>T" "" "pathogenic (recessive)" "" "0000645467" "0" "90" "12" "21995260" "21995260" "subst" "0" "01428" "ABCC9_000082" "g.21995260C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.21842326C>T" "" "pathogenic" "" "0000645468" "21" "70" "12" "21981971" "21981971" "subst" "2.43645E-5" "01428" "ABCC9_000287" "g.21981971C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21829037C>T" "" "VUS" "" "0000645470" "0" "70" "12" "22068642" "22068642" "subst" "0" "01428" "ABCC9_000288" "g.22068642G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.21915708G>T" "" "likely pathogenic" "" "0000645471" "0" "70" "12" "22068663" "22068663" "subst" "0" "01428" "ABCC9_000289" "g.22068663G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.21915729G>A" "" "likely pathogenic" "" "0000648525" "1" "50" "12" "22001088" "22001088" "subst" "0.000772232" "03575" "ABCC9_000290" "g.22001088G>A" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 10 heterozygous, no homozygous; {DB:CLININrs2291550}" "Germline" "" "rs2291550" "0" "" "" "g.21848154G>A" "" "VUS" "" "0000648526" "1" "50" "12" "22015989" "22015989" "subst" "0" "03575" "ABCC9_000243" "g.22015989C>T" "28/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 28 heterozygous, no homozygous; {DB:CLININrs141281214}" "Germline" "" "rs141281214" "0" "" "" "g.21863055C>T" "" "VUS" "" "0000653400" "0" "70" "12" "21981971" "21981971" "subst" "2.43645E-5" "01428" "ABCC9_000287" "g.21981971C>T" "" "" "" "" "" "Unknown" "" "rs755156050" "0" "" "" "g.21829037C>T" "" "VUS" "" "0000657068" "0" "30" "12" "22035769" "22035769" "subst" "0" "02326" "ABCC9_000291" "g.22035769A>G" "" "" "" "ABCC9(NM_020297.2):c.1950T>C (p.Y650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21882835A>G" "" "likely benign" "" "0000679460" "0" "10" "12" "21967618" "21967618" "subst" "9.76006E-5" "02330" "ABCC9_000188" "g.21967618C>T" "" "" "" "ABCC9(NM_020297.2):c.4062G>A (p.S1354=), ABCC9(NM_020297.4):c.4062G>A (p.S1354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000679461" "0" "70" "12" "22012601" "22012601" "subst" "0" "02325" "ABCC9_000292" "g.22012601C>A" "" "" "" "ABCC9(NM_020297.4):c.2425-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000679462" "0" "50" "12" "22015964" "22015964" "subst" "0.000460281" "02327" "ABCC9_000293" "g.22015964A>G" "" "" "" "ABCC9(NM_001377273.1):c.2262T>C (p.Y754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679463" "0" "30" "12" "22040784" "22040784" "subst" "0.000203643" "02330" "ABCC9_000119" "g.22040784C>A" "" "" "" "ABCC9(NM_020297.2):c.1887G>T (p.E629D, p.(Glu629Asp)), ABCC9(NM_020297.4):c.1887G>T (p.E629D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679464" "0" "30" "12" "22046961" "22046961" "subst" "0" "02327" "ABCC9_000122" "g.22046961C>A" "" "" "" "ABCC9(NM_020297.2):c.1802+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679465" "0" "50" "12" "22046985" "22046985" "subst" "0" "02325" "ABCC9_000294" "g.22046985C>T" "" "" "" "ABCC9(NM_020297.4):c.1783G>A (p.A595T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679466" "0" "10" "12" "22059121" "22059121" "subst" "0.000260495" "02330" "ABCC9_000126" "g.22059121C>T" "" "" "" "ABCC9(NM_020297.2):c.1557G>A (p.E519=), ABCC9(NM_020297.4):c.1557G>A (p.E519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000679467" "0" "30" "12" "22063211" "22063211" "subst" "5.78006E-5" "02326" "ABCC9_000295" "g.22063211C>T" "" "" "" "ABCC9(NM_020297.2):c.1200G>A (p.T400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679468" "0" "30" "12" "22063787" "22063787" "subst" "0" "02326" "ABCC9_000285" "g.22063787A>G" "" "" "" "ABCC9(NM_020297.2):c.1137T>C (p.T379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691315" "0" "30" "12" "21958216" "21958216" "subst" "0" "02326" "ABCC9_000296" "g.21958216G>T" "" "" "" "ABCC9(NM_005691.2):c.4542C>A (p.G1514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691316" "0" "10" "12" "22089507" "22089507" "subst" "1.22038E-5" "02330" "ABCC9_000297" "g.22089507A>G" "" "" "" "ABCC9(NM_020297.2):c.102T>C (p.H34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000698211" "0" "90" "12" "21995374" "21995374" "subst" "4.06233E-6" "00006" "ABCC9_000069" "g.21995374C>T" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.21842440C>T" "" "pathogenic (dominant)" "" "0000701485" "0" "70" "12" "22086831" "22086831" "subst" "0" "00006" "ABCC9_000305" "g.22086831G>A" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.21933897G>A" "" "likely pathogenic" "" "0000701486" "0" "50" "12" "22063782" "22063782" "subst" "4.06977E-6" "00006" "ABCC9_000304" "g.22063782A>T" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.21910848A>T" "" "VUS" "" "0000701487" "0" "50" "12" "22061108" "22061108" "subst" "0" "00006" "ABCC9_000303" "g.22061108C>G" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.21908174C>G" "" "VUS" "" "0000701488" "0" "50" "12" "22035732" "22035732" "subst" "0.000101578" "00006" "ABCC9_000302" "g.22035732G>A" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.21882798G>A" "" "VUS" "" "0000701489" "0" "50" "12" "22035719" "22035719" "subst" "0" "00006" "ABCC9_000301" "g.22035719G>T" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.21882785G>T" "" "VUS" "" "0000701490" "0" "50" "12" "22025608" "22025608" "subst" "4.06204E-6" "00006" "ABCC9_000300" "g.22025608C>T" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.21872674C>T" "" "VUS" "" "0000701491" "0" "50" "12" "21960377" "21960377" "subst" "8.13021E-6" "00006" "ABCC9_000299" "g.21960377A>G" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.21807443A>G" "" "VUS" "" "0000701492" "0" "50" "12" "21958145" "21958145" "subst" "8.12658E-6" "00006" "ABCC9_000298" "g.21958145T>C" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.21805211T>C" "" "VUS" "" "0000704357" "0" "50" "12" "21968807" "21968807" "subst" "2.43928E-5" "00006" "ABCC9_000306" "g.21968807G>A" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.21815873G>A" "" "VUS" "ACMG" "0000723975" "0" "30" "12" "21971126" "21971126" "subst" "4.46929E-5" "01943" "ABCC9_000307" "g.21971126C>T" "" "" "" "ABCC9(NM_020297.2):c.3729G>A (p.S1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723976" "0" "30" "12" "21981883" "21981883" "subst" "0" "02326" "ABCC9_000308" "g.21981883T>C" "" "" "" "ABCC9(NM_005691.2):c.3669+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723977" "0" "50" "12" "21981921" "21981921" "subst" "0" "01943" "ABCC9_000194" "g.21981921C>T" "" "" "" "ABCC9(NM_020297.2):c.3640G>A (p.A1214T, p.(Ala1214Thr)), ABCC9(NM_020297.4):c.3640G>A (p.A1214T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723978" "0" "30" "12" "21995390" "21995390" "subst" "8.93626E-5" "02326" "ABCC9_000091" "g.21995390A>G" "" "" "" "ABCC9(NM_005691.2):c.3331T>C (p.L1111=), ABCC9(NM_020297.2):c.3331T>C (p.L1111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723979" "0" "50" "12" "21997807" "21997807" "subst" "0" "02325" "ABCC9_000309" "g.21997807T>C" "" "" "" "ABCC9(NM_005691.4):c.3139A>G (p.I1047V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723980" "0" "50" "12" "21998743" "21998743" "subst" "4.07794E-6" "02330" "ABCC9_000310" "g.21998743C>T" "" "" "" "ABCC9(NM_020297.2):c.2890G>A (p.D964N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723981" "0" "10" "12" "22005175" "22005175" "subst" "0.0011562" "02330" "ABCC9_000100" "g.22005175C>T" "" "" "" "ABCC9(NM_005691.2):c.2644-19G>A, ABCC9(NM_020297.2):c.2644-19G>A, ABCC9(NM_020297.4):c.2644-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723982" "0" "30" "12" "22040762" "22040762" "subst" "4.07428E-5" "02330" "ABCC9_000280" "g.22040762C>T" "" "" "" "ABCC9(NM_020297.2):c.1909G>A (p.V637I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805661" "0" "50" "12" "21965005" "21965005" "subst" "8.13365E-6" "02325" "ABCC9_000272" "g.21965005T>C" "" "" "" "ABCC9(NM_005691.4):c.4189A>G (p.I1397V), ABCC9(NM_020297.2):c.4189A>G (p.I1397V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805662" "0" "10" "12" "21968685" "21968685" "subst" "0" "02330" "ABCC9_000311" "g.21968685G>A" "" "" "" "ABCC9(NM_020297.2):c.4023+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805663" "0" "50" "12" "21968702" "21968702" "subst" "0" "02325" "ABCC9_000312" "g.21968702G>T" "" "" "" "ABCC9(NM_005691.4):c.4018C>A (p.Q1340K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805664" "0" "50" "12" "21991019" "21991019" "subst" "0" "02330" "ABCC9_000224" "g.21991019C>A" "" "" "" "ABCC9(NM_020297.2):c.3559G>T (p.A1187S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805665" "0" "10" "12" "21997400" "21997400" "subst" "0.000195117" "02330" "ABCC9_000313" "g.21997400G>A" "" "" "" "ABCC9(NM_020297.2):c.3315+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805666" "0" "50" "12" "22012551" "22012551" "subst" "4.06336E-6" "02326" "ABCC9_000103" "g.22012551G>A" "" "" "" "ABCC9(NM_005691.2):c.2474C>T (p.A825V), ABCC9(NM_020297.4):c.2474C>T (p.A825V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805667" "0" "50" "12" "22048252" "22048252" "subst" "0" "02325" "ABCC9_000314" "g.22048252G>C" "" "" "" "ABCC9(NM_005691.4):c.1619-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805668" "0" "30" "12" "22059225" "22059225" "subst" "0" "01943" "ABCC9_000315" "g.22059225A>G" "" "" "" "ABCC9(NM_020297.2):c.1456-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805669" "0" "10" "12" "22061050" "22061050" "subst" "1.22209E-5" "02330" "ABCC9_000253" "g.22061050A>G" "" "" "" "ABCC9(NM_020297.2):c.1416T>C (p.F472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805670" "0" "50" "12" "22068744" "22068744" "subst" "0" "01804" "ABCC9_000316" "g.22068744T>G" "" "" "" "ABCC9(NM_005691.2):c.674A>C (p.(Lys225Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853342" "0" "50" "12" "21958186" "21958188" "delins" "0" "02327" "ABCC9_000208" "g.21958186_21958188delinsATTT" "" "" "" "ABCC9(NM_005691.2):c.4570_4572delTTAinsAAAT (p.L1524Kfs*5), ABCC9(NM_005691.4):c.4570_4572delTTAinsAAAT (p.L1524Kfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853343" "0" "30" "12" "21958997" "21958998" "ins" "0" "02327" "ABCC9_000184" "g.21958997_21958998insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853344" "0" "50" "12" "21970120" "21970120" "subst" "0" "02330" "ABCC9_000220" "g.21970120C>T" "" "" "" "ABCC9(NM_020297.2):c.3892+1G>A, ABCC9(NM_020297.4):c.3892+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853345" "0" "50" "12" "21995296" "21995296" "subst" "0" "01943" "ABCC9_000317" "g.21995296A>G" "" "" "" "ABCC9(NM_020297.2):c.3425T>C (p.L1142P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853346" "0" "50" "12" "22017397" "22017397" "subst" "0" "02327" "ABCC9_000318" "g.22017397T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853347" "0" "50" "12" "22035732" "22035732" "subst" "0.000101578" "02325" "ABCC9_000302" "g.22035732G>A" "" "" "" "ABCC9(NM_001377273.1):c.1987C>T (p.R663C), ABCC9(NM_005691.4):c.1987C>T (p.R663C), ABCC9(NM_020297.2):c.1987C>T (p.(Arg663Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862942" "0" "10" "12" "21971126" "21971126" "subst" "4.46929E-5" "02330" "ABCC9_000307" "g.21971126C>T" "" "" "" "ABCC9(NM_020297.2):c.3729G>A (p.S1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862943" "0" "30" "12" "21995312" "21995312" "subst" "0.00179618" "01804" "ABCC9_000226" "g.21995312C>T" "" "" "" "ABCC9(NM_005691.2):c.3409G>A (p.(Val1137Ile)), ABCC9(NM_020297.2):c.3409G>A (p.V1137I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862944" "0" "30" "12" "22040823" "22040823" "subst" "0.00331134" "01804" "ABCC9_000120" "g.22040823G>A" "" "" "" "ABCC9(NM_001377273.1):c.1848C>T (p.D616=), ABCC9(NM_005691.2):c.1848C>T (p.(Asp616=)), ABCC9(NM_020297.2):c.1848C>T (p.D616=), ABCC9(NM_020297.4):c..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862945" "0" "30" "12" "22068620" "22068620" "subst" "0.000272715" "01804" "ABCC9_000155" "g.22068620A>G" "" "" "" "ABCC9(NM_005691.2):c.798T>C (p.(Asp266=)), ABCC9(NM_020297.4):c.798T>C (p.D266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878774" "0" "50" "12" "22089527" "22089527" "subst" "0" "01741" "ABCC9_000319" "g.22089527C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "" "0000890484" "0" "30" "12" "21958249" "21958249" "subst" "8.15421E-6" "02327" "ABCC9_000320" "g.21958249G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890485" "0" "50" "12" "21965005" "21965005" "subst" "8.13365E-6" "02330" "ABCC9_000272" "g.21965005T>C" "" "" "" "ABCC9(NM_005691.4):c.4189A>G (p.I1397V), ABCC9(NM_020297.2):c.4189A>G (p.I1397V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890486" "0" "90" "12" "21967641" "21967641" "subst" "0" "02327" "ABCC9_000321" "g.21967641G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890487" "0" "30" "12" "21971087" "21971087" "subst" "0.00208442" "02327" "ABCC9_000089" "g.21971087A>G" "" "" "" "ABCC9(NM_020297.2):c.3768T>C (p.L1256=), ABCC9(NM_020297.4):c.3768T>C (p.L1256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890488" "0" "70" "12" "21997448" "21997448" "subst" "0" "02327" "ABCC9_000322" "g.21997448C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890489" "0" "50" "12" "22001087" "22001087" "subst" "0" "02325" "ABCC9_000323" "g.22001087C>G" "" "" "" "ABCC9(NM_005691.4):c.2863G>C (p.E955Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890490" "0" "10" "12" "22025600" "22025600" "subst" "8.12367E-6" "02330" "ABCC9_000324" "g.22025600G>A" "" "" "" "ABCC9(NM_020297.2):c.2157C>T (p.L719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890491" "0" "30" "12" "22059121" "22059121" "subst" "0.000260495" "02327" "ABCC9_000126" "g.22059121C>T" "" "" "" "ABCC9(NM_020297.2):c.1557G>A (p.E519=), ABCC9(NM_020297.4):c.1557G>A (p.E519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890492" "0" "30" "12" "22076761" "22076761" "subst" "0" "02327" "ABCC9_000325" "g.22076761A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890493" "0" "30" "12" "22089534" "22089534" "subst" "0.0001464" "02327" "ABCC9_000171" "g.22089534A>G" "" "" "" "ABCC9(NM_020297.2):c.75T>C (p.F25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909448" "0" "90" "12" "22063090" "22063090" "subst" "8.5757E-5" "03565" "ABCC9_000084" "g.22063090C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21910156C>T" "" "pathogenic" "" "0000909449" "0" "90" "12" "22001138" "22001138" "subst" "0" "03565" "ABCC9_000327" "g.22001138G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21848204G>A" "" "pathogenic" "" "0000909451" "0" "90" "12" "21962890" "21962890" "subst" "0" "03565" "ABCC9_000326" "g.21962890C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21809956C>A" "" "pathogenic" "" "0000909452" "0" "90" "12" "22040813" "22040813" "subst" "1.22197E-5" "03565" "ABCC9_000281" "g.22040813G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21887879G>A" "" "pathogenic" "" "0000913809" "0" "10" "12" "21965015" "21965015" "subst" "4.06689E-6" "02330" "ABCC9_000328" "g.21965015C>A" "" "" "" "ABCC9(NM_001377273.1):c.4179G>T (p.L1393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913810" "0" "50" "12" "21995308" "21995308" "subst" "0" "02325" "ABCC9_000329" "g.21995308G>A" "" "" "" "ABCC9(NM_005691.4):c.3413C>T (p.A1138V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913811" "0" "10" "12" "22005175" "22005175" "subst" "0.0011562" "02326" "ABCC9_000100" "g.22005175C>T" "" "" "" "ABCC9(NM_005691.2):c.2644-19G>A, ABCC9(NM_020297.2):c.2644-19G>A, ABCC9(NM_020297.4):c.2644-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913812" "0" "10" "12" "22016015" "22016015" "del" "0" "02325" "ABCC9_000110" "g.22016015del" "" "" "" "ABCC9(NM_005691.4):c.2238-17delT, ABCC9(NM_020297.2):c.2238-17delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913813" "0" "50" "12" "22017382" "22017382" "subst" "0" "02325" "ABCC9_000330" "g.22017382G>T" "" "" "" "ABCC9(NM_005691.4):c.2228C>A (p.A743E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927832" "3" "90" "12" "22063177" "22063177" "subst" "0" "03565" "ABCC9_000332" "g.22063177G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21910243G>A" "" "pathogenic (recessive)" "" "0000927833" "0" "90" "12" "22086715" "22086715" "subst" "1.21936E-5" "03565" "ABCC9_000333" "g.22086715C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21933781C>T" "" "pathogenic (recessive)" "" "0000927834" "0" "90" "12" "21971108" "21971108" "del" "4.0626E-6" "03565" "ABCC9_000331" "g.21971108del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21818174del" "" "pathogenic (recessive)" "" "0000930059" "0" "50" "12" "21995323" "21995323" "subst" "0" "02326" "ABCC9_000227" "g.21995323G>A" "" "" "" "ABCC9(NM_005691.2):c.3398C>T (p.P1133L), ABCC9(NM_020297.4):c.3398C>T (p.P1133L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930060" "0" "10" "12" "22017430" "22017430" "subst" "1.63102E-5" "02330" "ABCC9_000334" "g.22017430A>G" "" "" "" "ABCC9(NM_001377273.1):c.2199-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930061" "0" "10" "12" "22068591" "22068591" "subst" "0.000130815" "02330" "ABCC9_000154" "g.22068591C>T" "" "" "" "ABCC9(NM_001377273.1):c.816+11G>A, ABCC9(NM_020297.4):c.816+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000939847" "1" "70" "12" "22047065" "22047065" "subst" "0" "00006" "ABCC9_000335" "g.22047065G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.21894131G>A" "" "likely pathogenic (dominant)" "" "0000949925" "0" "90" "12" "22086822" "22086822" "subst" "0" "02329" "ABCC9_000174" "g.22086822G>A" "" "" "" "ABCC9(NM_001377273.1):c.178C>T (p.H60Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000954078" "0" "90" "12" "21958108" "24715383" "del" "0" "00006" "SOX5_000059" "g.(?_21958108)_(24715383_?)del" "" "{PMID:Moon 2021:35052368}" "" "12p12.2p12.1 deletion" "" "De novo" "" "" "0" "" "" "g.(?_21805174)_(24562449_?)del" "" "pathogenic" "" "0000957735" "0" "10" "12" "21971087" "21971087" "subst" "0.00208442" "00006" "ABCC9_000089" "g.21971087A>G" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21818153A>G" "" "benign" "" "0000957861" "0" "70" "12" "21971098" "21971098" "subst" "0" "00006" "ABCC9_000336" "g.21971098G>C" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21818164G>C" "" "likely pathogenic" "" "0000980185" "0" "30" "12" "21958070" "21958070" "subst" "0.000166732" "01804" "ABCC9_000338" "g.21958070C>T" "" "" "" "ABCC9(NM_005691.4):c.*38G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980186" "0" "50" "12" "21998742" "21998742" "subst" "0" "01804" "ABCC9_000339" "g.21998742T>A" "" "" "" "ABCC9(NM_020297.4):c.2891A>T (p.(Asp964Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980187" "0" "10" "12" "22005422" "22005422" "subst" "0.00321175" "01804" "ABCC9_000102" "g.22005422G>A" "" "" "" "ABCC9(NM_020297.2):c.2523C>T (p.A841=), ABCC9(NM_020297.4):c.2523C>T (p.(Ala841=), p.A841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980188" "0" "50" "12" "22015937" "22015944" "del" "0" "02327" "ABCC9_000340" "g.22015937_22015944del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980189" "0" "30" "12" "22017410" "22017410" "subst" "0.00730186" "01804" "ABCC9_000111" "g.22017410C>T" "" "" "" "ABCC9(NM_020297.2):c.2200G>A (p.V734I, p.(Val734Ile)), ABCC9(NM_020297.4):c.2200G>A (p.V734I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999892" "0" "50" "12" "21954004" "21954004" "subst" "0" "01804" "ABCC9_000341" "g.21954004C>A" "" "" "" "ABCC9(NM_020297.2):c.4624G>T (p.(Ala1542Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999893" "0" "30" "12" "21971147" "21971147" "subst" "0" "01804" "ABCC9_000342" "g.21971147T>C" "" "" "" "ABCC9(NM_020297.2):c.3708A>G (p.(Ile1236Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999894" "0" "50" "12" "21981921" "21981921" "subst" "0" "01804" "ABCC9_000194" "g.21981921C>T" "" "" "" "ABCC9(NM_020297.2):c.3640G>A (p.A1214T, p.(Ala1214Thr)), ABCC9(NM_020297.4):c.3640G>A (p.A1214T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999895" "0" "30" "12" "21981987" "21981987" "subst" "0" "01804" "ABCC9_000343" "g.21981987T>C" "" "" "" "ABCC9(NM_020297.2):c.3574A>G (p.(Thr1192Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999896" "0" "50" "12" "21991021" "21991021" "subst" "1.21928E-5" "01804" "ABCC9_000344" "g.21991021C>T" "" "" "" "ABCC9(NM_020297.2):c.3557G>A (p.(Arg1186Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999897" "0" "30" "12" "21995320" "21995320" "subst" "0" "01804" "ABCC9_000345" "g.21995320A>C" "" "" "" "ABCC9(NM_020297.2):c.3401T>G (p.(Val1134Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999898" "0" "30" "12" "22015951" "22015951" "subst" "0" "01804" "ABCC9_000242" "g.22015951G>A" "" "" "" "ABCC9(NM_020297.2):c.2275C>T (p.P759S, p.(Pro759Ser)), ABCC9(NM_020297.4):c.2275C>T (p.P759S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999899" "0" "10" "12" "22015964" "22015964" "subst" "0.000460281" "02330" "ABCC9_000293" "g.22015964A>G" "" "" "" "ABCC9(NM_001377273.1):c.2262T>C (p.Y754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000999900" "0" "30" "12" "22025555" "22025555" "subst" "4.06276E-6" "01804" "ABCC9_000346" "g.22025555A>G" "" "" "" "ABCC9(NM_020297.2):c.2198+4T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999901" "0" "50" "12" "22028630" "22028630" "subst" "0" "01804" "ABCC9_000347" "g.22028630C>A" "" "" "" "ABCC9(NM_020297.2):c.2050G>T (p.(Gly684Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999902" "0" "50" "12" "22028637" "22028637" "subst" "0" "01804" "ABCC9_000348" "g.22028637C>T" "" "" "" "ABCC9(NM_020297.2):c.2043G>A (p.(Trp681*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999903" "0" "50" "12" "22035732" "22035732" "subst" "0.000101578" "01804" "ABCC9_000302" "g.22035732G>A" "" "" "" "ABCC9(NM_001377273.1):c.1987C>T (p.R663C), ABCC9(NM_005691.4):c.1987C>T (p.R663C), ABCC9(NM_020297.2):c.1987C>T (p.(Arg663Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999904" "0" "30" "12" "22040784" "22040784" "subst" "0.000203643" "01804" "ABCC9_000119" "g.22040784C>A" "" "" "" "ABCC9(NM_020297.2):c.1887G>T (p.E629D, p.(Glu629Asp)), ABCC9(NM_020297.4):c.1887G>T (p.E629D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999905" "0" "50" "12" "22063795" "22063795" "subst" "4.88512E-5" "01804" "ABCC9_000349" "g.22063795T>C" "" "" "" "ABCC9(NM_020297.2):c.1129A>G (p.(Ile377Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999906" "0" "50" "12" "22069933" "22069933" "subst" "4.06785E-6" "01804" "ABCC9_000350" "g.22069933C>T" "" "" "" "ABCC9(NM_020297.2):c.511G>A (p.(Gly171Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014949" "0" "50" "12" "21958188" "21958189" "ins" "0.000528365" "02330" "ABCC9_000209" "g.21958188_21958189insTTT" "" "" "" "ABCC9(NM_005691.2):c.4569_4570insAAA (p.(Ile1523_Leu1524insLys)), ABCC9(NM_005691.2):c.4569_4570insAAA (p.I1523_L1524insK), ABCC9(NM_005691.4):c.45..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014950" "0" "30" "12" "21960385" "21960385" "subst" "2.84567E-5" "02330" "ABCC9_000351" "g.21960385A>G" "" "" "" "ABCC9(NM_001377273.1):c.4344T>C (p.N1448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014951" "0" "50" "12" "21995399" "21995399" "subst" "0" "02325" "ABCC9_000352" "g.21995399G>A" "" "" "" "ABCC9(NM_005691.4):c.3322C>T (p.P1108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014952" "0" "30" "12" "21995409" "21995409" "subst" "8.53568E-5" "02325" "ABCC9_000198" "g.21995409T>G" "" "" "" "ABCC9(NM_005691.4):c.3316-4A>C, ABCC9(NM_020297.2):c.3316-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014953" "0" "50" "12" "22035732" "22035732" "subst" "0.000101578" "02330" "ABCC9_000302" "g.22035732G>A" "" "" "" "ABCC9(NM_001377273.1):c.1987C>T (p.R663C), ABCC9(NM_005691.4):c.1987C>T (p.R663C), ABCC9(NM_020297.2):c.1987C>T (p.(Arg663Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026146" "0" "30" "12" "21959010" "21959010" "del" "0" "01943" "ABCC9_000212" "g.21959010del" "" "" "" "ABCC9(NM_020297.2):c.4450-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026147" "0" "50" "12" "22015989" "22015989" "subst" "0" "01943" "ABCC9_000243" "g.22015989C>T" "" "" "" "ABCC9(NM_005691.2):c.2238-1G>A (p.?), ABCC9(NM_020297.2):c.2238-1G>A, ABCC9(NM_020297.4):c.2238-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026148" "0" "50" "12" "22078945" "22078945" "subst" "1.21836E-5" "02330" "ABCC9_000353" "g.22078945C>T" "" "" "" "ABCC9(NM_001377273.1):c.337G>A (p.V113I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030266" "3" "90" "12" "21998752" "21998752" "del" "0" "02190" "ABCC9_000354" "g.21998752del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21845818del" "" "likely pathogenic" "ACMG" "0001030267" "3" "90" "12" "21997463" "21997463" "del" "8.13008E-6" "02190" "ABCC9_000355" "g.21997463del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21844529del" "" "likely pathogenic" "" "0001030268" "3" "90" "12" "21967577" "22040869" "del" "0" "02190" "ABCC9_000356" "g.(?_21967577)_(22040869_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.(?_21814643)_(21887935_?)del" "" "likely pathogenic" "" "0001030269" "11" "90" "12" "21968702" "21968702" "subst" "0" "02190" "ABCC9_000357" "g.21968702G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21815768G>A" "" "pathogenic" "" "0001030270" "21" "90" "12" "22040842" "22040843" "del" "2.44385E-5" "02190" "ABCC9_000358" "g.22040842_22040843del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21887908_21887909del" "" "pathogenic" "" "0001039127" "0" "50" "12" "21997821" "21997821" "subst" "0" "01804" "ABCC9_000359" "g.21997821A>T" "" "" "" "ABCC9(NM_020297.4):c.3125T>A (p.(Leu1042His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039128" "0" "50" "12" "22012569" "22012569" "subst" "0" "01804" "ABCC9_000360" "g.22012569C>G" "" "" "" "ABCC9(NM_020297.4):c.2456G>C (p.(Arg819Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039129" "0" "50" "12" "22017417" "22017417" "subst" "4.4801E-5" "01804" "ABCC9_000361" "g.22017417A>G" "" "" "" "ABCC9(NM_020297.4):c.2199-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039130" "0" "50" "12" "22025566" "22025566" "subst" "2.03113E-5" "01804" "ABCC9_000362" "g.22025566A>C" "" "" "" "ABCC9(NM_020297.4):c.2191T>G (p.(Trp731Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039131" "0" "50" "12" "22028657" "22028657" "subst" "0" "01804" "ABCC9_000245" "g.22028657T>C" "" "" "" "ABCC9(NM_020297.2):c.2023A>G (p.T675A), ABCC9(NM_020297.4):c.2023A>G (p.(Thr675Ala), p.T675A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039132" "0" "50" "12" "22040822" "22040822" "subst" "3.66506E-5" "01804" "ABCC9_000249" "g.22040822C>T" "" "" "" "ABCC9(NM_020297.2):c.1849G>A (p.D617N), ABCC9(NM_020297.4):c.1849G>A (p.(Asp617Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039133" "0" "30" "12" "22047113" "22047113" "subst" "0" "01804" "ABCC9_000363" "g.22047113G>T" "" "" "" "ABCC9(NM_020297.4):c.1660-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039134" "0" "50" "12" "22061137" "22061137" "subst" "0" "01804" "ABCC9_000364" "g.22061137C>A" "" "" "" "ABCC9(NM_020297.4):c.1329G>T (p.(Met443Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039135" "0" "30" "12" "22069916" "22069916" "subst" "0" "01804" "ABCC9_000365" "g.22069916C>T" "" "" "" "ABCC9(NM_020297.4):c.528G>A (p.(Leu176=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039136" "0" "50" "12" "22086854" "22086854" "subst" "0" "01804" "ABCC9_000366" "g.22086854C>T" "" "" "" "ABCC9(NM_020297.4):c.146G>A (p.(Trp49*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054249" "0" "30" "12" "21982118" "21982118" "subst" "0" "01804" "ABCC9_000367" "g.21982118T>G" "" "" "" "ABCC9(NM_020297.4):c.3567-124A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054250" "0" "10" "12" "21995400" "21995400" "subst" "0.00297382" "01804" "ABCC9_000197" "g.21995400G>A" "" "" "" "ABCC9(NM_020297.2):c.3321C>T (p.I1107=), ABCC9(NM_020297.4):c.3321C>T (p.(Ile1107=), p.I1107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001054251" "0" "50" "12" "21998780" "21998780" "del" "0" "01804" "ABCC9_000368" "g.21998780del" "" "" "" "ABCC9(NM_020297.4):c.2867-9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054252" "0" "30" "12" "22013896" "22013896" "subst" "0.00595578" "01804" "ABCC9_000104" "g.22013896A>G" "" "" "" "ABCC9(NM_020297.2):c.2424+9T>C, ABCC9(NM_020297.4):c.2424+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054253" "0" "50" "12" "22015933" "22015933" "subst" "4.06981E-6" "01804" "ABCC9_000107" "g.22015933T>C" "" "" "" "ABCC9(NM_020297.4):c.2293A>G (p.(Thr765Ala), p.T765A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054254" "0" "50" "12" "22059075" "22059075" "subst" "2.84835E-5" "01804" "ABCC9_000369" "g.22059075A>G" "" "" "" "ABCC9(NM_020297.4):c.1603T>C (p.(Tyr535His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054255" "0" "50" "12" "22061090" "22061090" "subst" "0" "01804" "ABCC9_000370" "g.22061090C>T" "" "" "" "ABCC9(NM_020297.4):c.1376G>A (p.(Gly459Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054256" "0" "30" "12" "22068629" "22068629" "subst" "0.00391986" "01804" "ABCC9_000156" "g.22068629G>A" "" "" "" "ABCC9(NM_020297.2):c.789C>T (p.C263=), ABCC9(NM_020297.4):c.789C>T (p.(Cys263=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058368" "0" "70" "12" "21998619" "21998619" "subst" "0" "00006" "ABCC9_000371" "g.21998619T>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.21845685T>A" "" "likely pathogenic" "" ## 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 ABCC9 ## Count = 511 "{{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}}" "0000036010" "00001877" "50" "3669" "0" "3669" "0" "c.3669G>A" "r.(spl?)" "p.(?)" "29" "0000079315" "00001877" "90" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Gly459Ser)" "9" "0000096529" "00001877" "50" "1223" "0" "1223" "0" "c.1223T>A" "r.(?)" "p.(Met408Arg)" "8" "0000134807" "00001877" "90" "3460" "0" "3460" "0" "c.3460C>T" "r.(?)" "p.(Arg1154Trp)" "27" "0000134808" "00001877" "90" "3460" "0" "3460" "0" "c.3460C>T" "r.(?)" "p.(Arg1154Trp)" "" "0000134809" "00001877" "90" "3347" "0" "3347" "0" "c.3347G>A" "r.(?)" "p.(Arg1116His)" "" "0000134810" "00001877" "90" "4385" "0" "4385" "0" "c.4385C>G" "r.(?)" "p.(Ala1462Gly)" "" "0000134811" "00001877" "90" "2954" "0" "2954" "0" "c.2954A>C" "r.(?)" "p.(Tyr985Ser)" "" "0000134812" "00001877" "90" "3736" "0" "3736" "0" "c.3736G>C" "r.(?)" "p.(Gly1246Arg)" "" "0000134813" "00001877" "90" "3460" "0" "3460" "0" "c.3460C>T" "r.(?)" "p.(Arg1154Trp)" "" "0000134814" "00001877" "90" "3461" "0" "3461" "0" "c.3461G>A" "r.(?)" "p.(Arg1154Gln)" "" "0000134815" "00001877" "90" "3460" "0" "3460" "0" "c.3460C>T" "r.(?)" "p.(Arg1154Trp)" "" "0000134816" "00001877" "90" "3115" "0" "3115" "0" "c.3115T>C" "r.(?)" "p.(Phe1039Leu)" "" "0000134817" "00001877" "90" "3605" "0" "3605" "0" "c.3605C>T" "r.(?)" "p.(Thr1202Met)" "" "0000134818" "00001877" "90" "3346" "0" "3346" "0" "c.3346C>G" "r.(?)" "p.(Arg1116Gly)" "" "0000134819" "00001877" "90" "3347" "0" "3347" "0" "c.3347G>A" "r.(?)" "p.(Arg1116His)" "" "0000134820" "00001877" "90" "1607" "0" "1607" "0" "c.1607C>T" "r.(?)" "p.(Thr536Ile)" "" "0000134821" "00001877" "90" "1331" "0" "1331" "0" "c.1331G>T" "r.(?)" "p.(Gly444Val)" "" "0000134822" "00001877" "90" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Ala478Val)" "" "0000134823" "00001877" "90" "3461" "0" "3461" "0" "c.3461G>A" "r.(?)" "p.(Arg1154Gln)" "" "0000134824" "00001877" "90" "3758" "0" "3758" "0" "c.3758T>C" "r.(?)" "p.(Leu1253Pro)" "" "0000134825" "00001877" "90" "3461" "0" "3461" "0" "c.3461G>A" "r.(?)" "p.(Arg1154Gln)" "" "0000134826" "00001877" "90" "1333" "0" "1333" "0" "c.1333G>C" "r.(?)" "p.(Val445Leu)" "" "0000134827" "00001877" "90" "3461" "0" "3461" "0" "c.3461G>A" "r.(?)" "p.(Arg1154Gln)" "" "0000134828" "00001877" "90" "3346" "0" "3346" "0" "c.3346C>T" "r.(?)" "p.(Arg1116Cys)" "" "0000134829" "00001877" "90" "3461" "0" "3461" "0" "c.3461G>A" "r.(?)" "p.(Arg1154Gln)" "" "0000134830" "00001877" "90" "3461" "0" "3461" "0" "c.3461G>A" "r.(?)" "p.(Arg1154Gln)" "" "0000218389" "00001877" "90" "1320" "1" "1320" "1" "c.1320+1G>A" "r.spl?" "p.?" "" "0000218491" "00001877" "50" "3522" "0" "3522" "0" "c.3522C>G" "r.(?)" "p.(His1174Gln)" "" "0000247069" "00001877" "10" "1296" "0" "1296" "0" "c.1296T>C" "r.(?)" "p.(Pro432=)" "" "0000247071" "00001877" "10" "2199" "-11" "2199" "-11" "c.2199-11T>C" "r.(=)" "p.(=)" "" "0000247072" "00001877" "30" "2093" "-7" "2093" "-7" "c.2093-7T>C" "r.(=)" "p.(=)" "" "0000247074" "00001877" "10" "2424" "9" "2424" "9" "c.2424+9T>C" "r.(=)" "p.(=)" "" "0000247075" "00001877" "10" "817" "-7" "817" "-7" "c.817-7del" "r.(=)" "p.(=)" "" "0000247078" "00001877" "10" "8799" "0" "8799" "0" "c.*4149T>C" "r.(=)" "p.(=)" "" "0000247081" "00001877" "10" "3768" "0" "3768" "0" "c.3768T>C" "r.(?)" "p.(Leu1256=)" "" "0000247090" "00001877" "10" "817" "-18" "817" "-18" "c.817-18del" "r.(=)" "p.(=)" "" "0000247108" "00001877" "10" "75" "0" "75" "0" "c.75T>C" "r.(?)" "p.(Phe25=)" "" "0000247144" "00001877" "10" "3474" "-10" "3474" "-10" "c.3474-10T>C" "r.(=)" "p.(=)" "" "0000247145" "00001877" "10" "1165" "-6" "1165" "-6" "c.1165-6del" "r.(=)" "p.(=)" "" "0000247146" "00001877" "10" "817" "-11" "817" "-11" "c.817-11T>C" "r.(=)" "p.(=)" "" "0000247147" "00001877" "10" "-11" "0" "-11" "0" "c.-11T>C" "r.(?)" "p.(=)" "" "0000247184" "00001877" "50" "1609" "0" "1609" "0" "c.1609T>A" "r.(?)" "p.(Ser537Thr)" "" "0000247835" "00001877" "10" "1296" "0" "1296" "0" "c.1296T>C" "r.(?)" "p.(Pro432=)" "" "0000247848" "00001877" "10" "2199" "-11" "2199" "-11" "c.2199-11T>C" "r.(=)" "p.(=)" "" "0000247879" "00001877" "30" "2093" "-7" "2093" "-7" "c.2093-7T>C" "r.(=)" "p.(=)" "" "0000248052" "00001877" "30" "8799" "0" "8799" "0" "c.*4149T>C" "r.(=)" "p.(=)" "" "0000248063" "00001877" "30" "142" "19" "142" "19" "c.142+19T>A" "r.(=)" "p.(=)" "" "0000248079" "00001877" "30" "3768" "0" "3768" "0" "c.3768T>C" "r.(?)" "p.(Leu1256=)" "" "0000249165" "00001877" "10" "1165" "-6" "1165" "-6" "c.1165-6del" "r.(=)" "p.(=)" "" "0000249387" "00001877" "30" "4512" "0" "4512" "0" "c.4512T>A" "r.(?)" "p.(Ala1504=)" "" "0000249388" "00001877" "30" "798" "0" "798" "0" "c.798T>C" "r.(?)" "p.(Asp266=)" "" "0000249558" "00001877" "30" "2339" "16" "2339" "16" "c.2339+16T>C" "r.(=)" "p.(=)" "" "0000249559" "00001877" "30" "817" "-7" "817" "-7" "c.817-7del" "r.(=)" "p.(=)" "" "0000249560" "00001877" "30" "142" "15" "142" "15" "c.142+15dup" "r.(=)" "p.(=)" "" "0000249657" "00001877" "50" "4571" "0" "4571" "0" "c.4571T>A" "r.(?)" "p.(Leu1524Ter)" "" "0000249658" "00001877" "50" "4570" "0" "4570" "0" "c.4570T>A" "r.(?)" "p.(Leu1524Ile)" "" "0000249742" "00001877" "50" "3305" "0" "3305" "0" "c.3305del" "r.(?)" "p.(Ile1102ThrfsTer13)" "" "0000249764" "00001877" "50" "305" "0" "305" "0" "c.305T>C" "r.(?)" "p.(Leu102Pro)" "" "0000250617" "00001877" "10" "1296" "0" "1296" "0" "c.1296T>C" "r.(?)" "p.(Pro432=)" "" "0000250630" "00001877" "10" "2199" "-11" "2199" "-11" "c.2199-11T>C" "r.(=)" "p.(=)" "" "0000250661" "00001877" "10" "2093" "-7" "2093" "-7" "c.2093-7T>C" "r.(=)" "p.(=)" "" "0000250681" "00001877" "10" "2424" "9" "2424" "9" "c.2424+9T>C" "r.(=)" "p.(=)" "" "0000250682" "00001877" "10" "817" "-7" "817" "-7" "c.817-7del" "r.(=)" "p.(=)" "" "0000250750" "00001877" "10" "924" "0" "924" "0" "c.924T>C" "r.(?)" "p.(Asp308=)" "" "0000250770" "00001877" "30" "3768" "0" "3768" "0" "c.3768T>C" "r.(?)" "p.(Leu1256=)" "" "0000251504" "00001877" "10" "2238" "-17" "2238" "-17" "c.2238-17del" "r.(=)" "p.(=)" "" "0000251505" "00001877" "10" "1165" "-6" "1165" "-6" "c.1165-6del" "r.(=)" "p.(=)" "" "0000251746" "00001877" "30" "817" "-18" "817" "-18" "c.817-18del" "r.(=)" "p.(=)" "" "0000252212" "00001877" "30" "2020" "-6" "2020" "-6" "c.2020-6T>C" "r.(=)" "p.(=)" "" "0000252649" "00001877" "50" "1659" "0" "1659" "0" "c.1659T>C" "r.(?)" "p.(Ala553=)" "" "0000252735" "00001877" "50" "4289" "0" "4289" "0" "c.4289T>C" "r.(?)" "p.(Met1430Thr)" "" "0000252969" "00001877" "10" "1296" "0" "1296" "0" "c.1296T>C" "r.(?)" "p.(Pro432=)" "" "0000252982" "00001877" "10" "2199" "-11" "2199" "-11" "c.2199-11T>C" "r.(=)" "p.(=)" "" "0000253013" "00001877" "30" "2093" "-7" "2093" "-7" "c.2093-7T>C" "r.(=)" "p.(=)" "" "0000253033" "00001877" "10" "2424" "9" "2424" "9" "c.2424+9T>C" "r.(=)" "p.(=)" "" "0000253034" "00001877" "10" "817" "-7" "817" "-7" "c.817-7del" "r.(=)" "p.(=)" "" "0000253313" "00001877" "10" "8799" "0" "8799" "0" "c.*4149T>C" "r.(=)" "p.(=)" "" "0000253324" "00001877" "10" "142" "19" "142" "19" "c.142+19T>A" "r.(=)" "p.(=)" "" "0000253969" "00001877" "30" "924" "0" "924" "0" "c.924T>C" "r.(?)" "p.(Asp308=)" "" "0000253989" "00001877" "30" "3768" "0" "3768" "0" "c.3768T>C" "r.(?)" "p.(Leu1256=)" "" "0000254238" "00001877" "30" "3030" "0" "3030" "0" "c.3030T>C" "r.(?)" "p.(Ala1010=)" "" "0000254239" "00001877" "30" "402" "0" "402" "0" "c.402T>C" "r.(?)" "p.(Leu134=)" "" "0000254240" "00001877" "30" "372" "0" "372" "0" "c.372T>C" "r.(?)" "p.(Asn124=)" "" "0000254643" "00001877" "30" "3331" "0" "3331" "0" "c.3331T>C" "r.(?)" "p.(Leu1111=)" "" "0000255180" "00001877" "30" "2826" "0" "2826" "0" "c.2826T>C" "r.(?)" "p.(Tyr942=)" "" "0000255275" "00001877" "30" "407" "-13" "407" "-13" "c.407-13T>C" "r.(=)" "p.(=)" "" "0000257003" "00001877" "10" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(Tyr352=)" "" "0000257004" "00001877" "10" "1164" "11" "1164" "11" "c.1164+11A>G" "r.(=)" "p.(=)" "" "0000257006" "00001877" "10" "1165" "-6" "1165" "-6" "c.1165-6dup" "r.(=)" "p.(=)" "" "0000257009" "00001877" "30" "1290" "0" "1290" "0" "c.1290G>T" "r.(?)" "p.(Leu430=)" "" "0000257011" "00001877" "50" "1770" "0" "1770" "0" "c.1770G>A" "r.(?)" "p.(Thr590=)" "" "0000257012" "00001877" "30" "1803" "-18" "1803" "-18" "c.1803-18G>A" "r.(=)" "p.(=)" "" "0000257013" "00001877" "30" "1848" "0" "1848" "0" "c.1848C>T" "r.(?)" "p.(Asp616=)" "" "0000257014" "00001877" "10" "1932" "0" "1932" "0" "c.1932G>A" "r.(?)" "p.(Arg644=)" "" "0000257015" "00001877" "10" "2050" "0" "2050" "0" "c.2050G>A" "r.(?)" "p.(Gly684Ser)" "" "0000257016" "00001877" "10" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Val734Ile)" "" "0000257018" "00001877" "10" "2238" "-18" "2238" "-17" "c.2238-18_2238-17del" "r.(=)" "p.(=)" "" "0000257019" "00001877" "10" "2238" "-17" "2238" "-17" "c.2238-17del" "r.(=)" "p.(=)" "" "0000257020" "00001877" "10" "2523" "0" "2523" "0" "c.2523C>T" "r.(?)" "p.(Ala841=)" "" "0000257021" "00001877" "10" "2643" "17" "2643" "17" "c.2643+17G>C" "r.(=)" "p.(=)" "" "0000257022" "00001877" "30" "2644" "-11" "2644" "-11" "c.2644-11G>A" "r.(=)" "p.(=)" "" "0000257023" "00001877" "10" "285" "-16" "285" "-16" "c.285-16G>A" "r.(=)" "p.(=)" "" "0000257024" "00001877" "30" "2866" "3" "2866" "3" "c.2866+3A>G" "r.spl?" "p.?" "" "0000257025" "00001877" "10" "3070" "0" "3070" "0" "c.3070A>G" "r.(?)" "p.(Ile1024Val)" "" "0000257026" "00001877" "30" "3096" "13" "3096" "13" "c.3096+13C>T" "r.(=)" "p.(=)" "" "0000257027" "00001877" "30" "3316" "-4" "3316" "-4" "c.3316-4A>C" "r.spl?" "p.?" "" "0000257028" "00001877" "10" "3321" "0" "3321" "0" "c.3321C>T" "r.(?)" "p.(Ile1107=)" "" "0000257030" "00001877" "30" "4024" "-17" "4024" "-17" "c.4024-17G>A" "r.(=)" "p.(=)" "" "0000257033" "00001877" "30" "4450" "-6" "4450" "-5" "c.4450-6_4450-5del" "r.spl?" "p.?" "" "0000257034" "00001877" "10" "574" "-5" "574" "-5" "c.574-5C>A" "r.spl?" "p.?" "" "0000257035" "00001877" "10" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Cys263=)" "" "0000257036" "00001877" "10" "817" "-17" "817" "-17" "c.817-17C>T" "r.(=)" "p.(=)" "" "0000257037" "00001877" "10" "817" "-7" "817" "-7" "c.817-7dup" "r.(=)" "p.(=)" "" "0000257039" "00001877" "30" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Arg281Gln)" "" "0000257040" "00001877" "10" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Val32=)" "" "0000258703" "00001877" "10" "1164" "11" "1164" "11" "c.1164+11A>G" "r.(=)" "p.(=)" "" "0000258704" "00001877" "10" "574" "-5" "574" "-5" "c.574-5C>A" "r.spl?" "p.?" "" "0000259290" "00001877" "30" "1848" "0" "1848" "0" "c.1848C>T" "r.(?)" "p.(Asp616=)" "" "0000259291" "00001877" "30" "2050" "0" "2050" "0" "c.2050G>A" "r.(?)" "p.(Gly684Ser)" "" "0000259292" "00001877" "30" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Val734Ile)" "" "0000259293" "00001877" "30" "2523" "0" "2523" "0" "c.2523C>T" "r.(?)" "p.(Ala841=)" "" "0000259294" "00001877" "30" "2644" "-11" "2644" "-11" "c.2644-11G>A" "r.(=)" "p.(=)" "" "0000259295" "00001877" "30" "285" "-16" "285" "-16" "c.285-16G>A" "r.(=)" "p.(=)" "" "0000259296" "00001877" "30" "3321" "0" "3321" "0" "c.3321C>T" "r.(?)" "p.(Ile1107=)" "" "0000259297" "00001877" "30" "4024" "-17" "4024" "-17" "c.4024-17G>A" "r.(=)" "p.(=)" "" "0000259365" "00001877" "30" "1165" "-7" "1165" "-6" "c.1165-7_1165-6del" "r.(=)" "p.(=)" "" "0000259366" "00001877" "30" "142" "15" "142" "15" "c.142+15A>G" "r.(=)" "p.(=)" "" "0000259367" "00001877" "30" "1436" "0" "1436" "0" "c.1436A>G" "r.(?)" "p.(Glu479Gly)" "" "0000259368" "00001877" "30" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Glu519=)" "" "0000259369" "00001877" "30" "1887" "0" "1887" "0" "c.1887G>T" "r.(?)" "p.(Glu629Asp)" "" "0000259370" "00001877" "30" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Arg663His)" "" "0000259371" "00001877" "30" "2644" "-19" "2644" "-19" "c.2644-19G>A" "r.(=)" "p.(=)" "" "0000259372" "00001877" "30" "3606" "0" "3606" "0" "c.3606G>A" "r.(?)" "p.(Thr1202=)" "" "0000259373" "00001877" "30" "3668" "0" "3668" "0" "c.3668C>T" "r.(?)" "p.(Thr1223Met)" "" "0000259374" "00001877" "30" "3669" "14" "3669" "14" "c.3669+14A>G" "r.(=)" "p.(=)" "" "0000259375" "00001877" "30" "4062" "0" "4062" "0" "c.4062G>A" "r.(?)" "p.(Ser1354=)" "" "0000259376" "00001877" "30" "411" "0" "411" "0" "c.411G>T" "r.(?)" "p.(Leu137=)" "" "0000259377" "00001877" "30" "4660" "0" "4660" "0" "c.*10A>G" "r.(=)" "p.(=)" "" "0000259378" "00001877" "30" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Asn16=)" "" "0000259379" "00001877" "30" "816" "11" "816" "11" "c.816+11G>A" "r.(=)" "p.(=)" "" "0000259603" "00001877" "50" "2293" "0" "2293" "0" "c.2293A>G" "r.(?)" "p.(Thr765Ala)" "" "0000259604" "00001877" "50" "2324" "0" "2324" "0" "c.2324C>A" "r.(?)" "p.(Pro775His)" "" "0000259605" "00001877" "50" "2474" "0" "2474" "0" "c.2474C>T" "r.(?)" "p.(Ala825Val)" "" "0000259606" "00001877" "50" "2674" "0" "2674" "0" "c.2674A>G" "r.(?)" "p.(Arg892Gly)" "" "0000259734" "00001877" "50" "4572" "0" "4573" "0" "c.4572_4573insT" "r.(?)" "p.(Val1525CysfsTer4)" "" "0000260451" "00001877" "10" "1164" "11" "1164" "11" "c.1164+11A>G" "r.(=)" "p.(=)" "" "0000260452" "00001877" "10" "1165" "-7" "1165" "-6" "c.1165-7_1165-6del" "r.(=)" "p.(=)" "" "0000260453" "00001877" "30" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Glu519=)" "" "0000260454" "00001877" "30" "1887" "0" "1887" "0" "c.1887G>T" "r.(?)" "p.(Glu629Asp)" "" "0000260455" "00001877" "30" "2050" "0" "2050" "0" "c.2050G>A" "r.(?)" "p.(Gly684Ser)" "" "0000260456" "00001877" "10" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Val734Ile)" "" "0000260457" "00001877" "50" "2324" "0" "2324" "0" "c.2324C>A" "r.(?)" "p.(Pro775His)" "" "0000260458" "00001877" "10" "2523" "0" "2523" "0" "c.2523C>T" "r.(?)" "p.(Ala841=)" "" "0000260459" "00001877" "10" "2644" "-11" "2644" "-11" "c.2644-11G>A" "r.(=)" "p.(=)" "" "0000260460" "00001877" "50" "3196" "0" "3196" "0" "c.3196A>T" "r.(?)" "p.(Lys1066Ter)" "" "0000260461" "00001877" "90" "3346" "0" "3346" "0" "c.3346C>T" "r.(?)" "p.(Arg1116Cys)" "" "0000260462" "00001877" "70" "3347" "0" "3347" "0" "c.3347G>A" "r.(?)" "p.(Arg1116His)" "" "0000260463" "00001877" "90" "3460" "0" "3460" "0" "c.3460C>T" "r.(?)" "p.(Arg1154Trp)" "" "0000260464" "00001877" "90" "3461" "0" "3461" "0" "c.3461G>A" "r.(?)" "p.(Arg1154Gln)" "" "0000260465" "00001877" "30" "3492" "0" "3492" "0" "c.3492C>T" "r.(?)" "p.(Asp1164=)" "" "0000260466" "00001877" "50" "4026" "0" "4026" "0" "c.4026G>T" "r.(?)" "p.(Val1342=)" "" "0000260467" "00001877" "70" "4385" "0" "4385" "0" "c.4385C>G" "r.(?)" "p.(Ala1462Gly)" "" "0000260468" "00001877" "10" "4512" "16" "4512" "16" "c.4512+16C>T" "r.(=)" "p.(=)" "" "0000260469" "00001877" "70" "4537" "0" "4537" "0" "c.4537G>A" "r.(?)" "p.(Ala1513Thr)" "" "0000260470" "00001877" "10" "574" "-5" "574" "-5" "c.574-5C>A" "r.spl?" "p.?" "" "0000260471" "00001877" "30" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Arg281Gln)" "" "0000260472" "00001877" "30" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Asn330Ser)" "" "0000261678" "00001877" "30" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(Tyr352=)" "" "0000261679" "00001877" "10" "1164" "11" "1164" "11" "c.1164+11A>G" "r.(=)" "p.(=)" "" "0000261680" "00001877" "30" "1165" "-5" "1165" "-5" "c.1165-5G>T" "r.spl?" "p.?" "" "0000261681" "00001877" "10" "1165" "-6" "1165" "-6" "c.1165-6dup" "r.(=)" "p.(=)" "" "0000261683" "00001877" "50" "1802" "5" "1802" "5" "c.1802+5G>T" "r.spl?" "p.?" "" "0000261684" "00001877" "10" "1848" "0" "1848" "0" "c.1848C>T" "r.(?)" "p.(Asp616=)" "" "0000261685" "00001877" "30" "1887" "0" "1887" "0" "c.1887G>T" "r.(?)" "p.(Glu629Asp)" "" "0000261686" "00001877" "50" "201" "0" "201" "0" "c.201G>A" "r.(?)" "p.(Pro67=)" "" "0000261687" "00001877" "30" "2050" "0" "2050" "0" "c.2050G>A" "r.(?)" "p.(Gly684Ser)" "" "0000261688" "00001877" "30" "2081" "0" "2081" "0" "c.2081G>A" "r.(?)" "p.(Arg694Gln)" "" "0000261689" "00001877" "10" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Val734Ile)" "" "0000261690" "00001877" "10" "2523" "0" "2523" "0" "c.2523C>T" "r.(?)" "p.(Ala841=)" "" "0000261691" "00001877" "10" "2643" "17" "2643" "17" "c.2643+17G>C" "r.(=)" "p.(=)" "" "0000261692" "00001877" "10" "2769" "28" "2769" "28" "c.2769+28A>C" "r.(=)" "p.(=)" "" "0000261693" "00001877" "50" "3073" "0" "3073" "0" "c.3073A>G" "r.(?)" "p.(Asn1025Asp)" "" "0000261694" "00001877" "10" "3097" "-25" "3097" "-25" "c.3097-25G>A" "r.(=)" "p.(=)" "" "0000261695" "00001877" "50" "3238" "0" "3238" "0" "c.3238C>A" "r.(?)" "p.(Pro1080Thr)" "" "0000261696" "00001877" "50" "3238" "0" "3238" "0" "c.3238C>T" "r.(?)" "p.(Pro1080Ser)" "" "0000261697" "00001877" "10" "3321" "0" "3321" "0" "c.3321C>T" "r.(?)" "p.(Ile1107=)" "" "0000261698" "00001877" "30" "4062" "0" "4062" "0" "c.4062G>A" "r.(?)" "p.(Ser1354=)" "" "0000261699" "00001877" "30" "411" "0" "411" "0" "c.411G>T" "r.(?)" "p.(Leu137=)" "" "0000261700" "00001877" "30" "4401" "0" "4401" "0" "c.4401C>T" "r.(?)" "p.(Ser1467=)" "" "0000261701" "00001877" "50" "4498" "0" "4498" "0" "c.4498G>A" "r.(?)" "p.(Val1500Met)" "" "0000261702" "00001877" "70" "4537" "0" "4537" "0" "c.4537G>A" "r.(?)" "p.(Ala1513Thr)" "" "0000261703" "00001877" "50" "4564" "0" "4564" "0" "c.4564G>C" "r.(?)" "p.(Gly1522Arg)" "" "0000261704" "00001877" "50" "8700" "0" "8700" "0" "c.*4050A>G" "r.(=)" "p.(=)" "" "0000261705" "00001877" "10" "574" "-5" "574" "-5" "c.574-5C>A" "r.spl?" "p.?" "" "0000261706" "00001877" "10" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Cys263=)" "" "0000261708" "00001877" "30" "817" "-6" "817" "-6" "c.817-6C>A" "r.(=)" "p.(=)" "" "0000261709" "00001877" "30" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Arg281Gln)" "" "0000322706" "00001877" "90" "3461" "0" "3461" "0" "c.3461G>A" "r.(?)" "p.(Arg1154Gln)" "" "0000322707" "00001877" "30" "2093" "-7" "2093" "-7" "c.2093-7T>C" "r.(=)" "p.(=)" "" "0000322708" "00001877" "30" "2050" "0" "2050" "0" "c.2050G>A" "r.(?)" "p.(Gly684Ser)" "" "0000337521" "00001877" "10" "1164" "11" "1164" "11" "c.1164+11A>G" "r.(=)" "p.(=)" "" "0000337522" "00001877" "10" "574" "-5" "574" "-5" "c.574-5C>A" "r.spl?" "p.?" "" "0000339686" "00001877" "10" "1296" "0" "1296" "0" "c.1296T>C" "r.(?)" "p.(Pro432=)" "" "0000341728" "00001877" "90" "3346" "0" "3346" "0" "c.3346C>T" "r.(?)" "p.(Arg1116Cys)" "" "0000346505" "00001877" "90" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(His60Tyr)" "" "0000368350" "00001877" "50" "3640" "0" "3640" "0" "c.3640G>A" "r.(?)" "p.(Ala1214Thr)" "29" "0000547484" "00001877" "30" "8794" "0" "8798" "0" "c.*4144_*4148del" "r.(=)" "p.(=)" "" "0000547485" "00001877" "50" "4571" "0" "4572" "0" "c.4571_4572del" "r.(?)" "p.(Leu1524CysfsTer4)" "" "0000547486" "00001877" "30" "4571" "0" "4572" "0" "c.4571_4572del" "r.(?)" "p.(Leu1524CysfsTer4)" "" "0000547487" "00001877" "50" "4571" "0" "4572" "0" "c.4571_4572del" "r.(?)" "p.(Leu1524CysfsTer4)" "" "0000547488" "00001877" "50" "4571" "0" "4572" "0" "c.4571_4572del" "r.(?)" "p.(Leu1524CysfsTer4)" "" "0000547489" "00001877" "50" "4570" "0" "4572" "0" "c.4570_4572delinsAAAT" "r.(?)" "p.(Leu1524LysfsTer5)" "" "0000547490" "00001877" "50" "4570" "0" "4572" "0" "c.4570_4572delinsAAAT" "r.(?)" "p.(Leu1524LysfsTer5)" "" "0000547491" "00001877" "50" "4569" "0" "4570" "0" "c.4569_4570insAAA" "r.(?)" "p.(Ile1523_Leu1524insLys)" "" "0000547492" "00001877" "50" "4569" "0" "4570" "0" "c.4569_4570insAAA" "r.(?)" "p.(Ile1523_Leu1524insLys)" "" "0000547494" "00001877" "70" "4537" "0" "4537" "0" "c.4537G>A" "r.(?)" "p.(Ala1513Thr)" "" "0000547495" "00001877" "10" "4450" "-14" "4450" "-14" "c.4450-14T>A" "r.(=)" "p.(=)" "" "0000547496" "00001877" "10" "4450" "-17" "4450" "-16" "c.4450-17_4450-16insA" "r.(=)" "p.(=)" "" "0000547497" "00001877" "10" "4450" "-5" "4450" "-5" "c.4450-5del" "r.spl?" "p.?" "" "0000547499" "00001877" "30" "4450" "-5" "4450" "-5" "c.4450-5del" "r.spl?" "p.?" "" "0000547500" "00001877" "10" "4450" "-5" "4450" "-5" "c.4450-5dup" "r.spl?" "p.?" "" "0000547502" "00001877" "30" "4437" "0" "4437" "0" "c.4437T>C" "r.(?)" "p.(Ile1479=)" "" "0000547503" "00001877" "30" "4389" "0" "4389" "0" "c.4389T>C" "r.(?)" "p.(Phe1463=)" "" "0000547504" "00001877" "10" "4315" "11" "4315" "11" "c.4315+11T>C" "r.(=)" "p.(=)" "" "0000547505" "00001877" "30" "4146" "0" "4146" "0" "c.4146G>A" "r.(?)" "p.(Leu1382=)" "" "0000547506" "00001877" "30" "4062" "0" "4062" "0" "c.4062G>A" "r.(?)" "p.(Ser1354=)" "" "0000547507" "00001877" "30" "3893" "-12" "3893" "-12" "c.3893-12C>T" "r.(=)" "p.(=)" "" "0000547508" "00001877" "50" "3892" "1" "3892" "1" "c.3892+1G>A" "r.spl?" "p.?" "" "0000547509" "00001877" "50" "3772" "-10" "3772" "-10" "c.3772-10C>A" "r.(=)" "p.(=)" "" "0000547510" "00001877" "10" "3772" "-16" "3772" "-16" "c.3772-16dup" "r.(=)" "p.(=)" "" "0000547511" "00001877" "30" "3727" "0" "3727" "0" "c.3727T>A" "r.(?)" "p.(Ser1243Thr)" "" "0000547512" "00001877" "50" "3640" "0" "3640" "0" "c.3640G>A" "r.(?)" "p.(Ala1214Thr)" "" "0000547513" "00001877" "50" "3559" "0" "3559" "0" "c.3559G>T" "r.(?)" "p.(Ala1187Ser)" "" "0000547514" "00001877" "30" "3492" "0" "3492" "0" "c.3492C>T" "r.(?)" "p.(Asp1164=)" "" "0000547515" "00001877" "90" "3460" "0" "3460" "0" "c.3460C>T" "r.(?)" "p.(Arg1154Trp)" "" "0000547516" "00001877" "30" "3435" "0" "3435" "0" "c.3435C>A" "r.(?)" "p.(Ala1145=)" "" "0000547517" "00001877" "10" "3409" "0" "3409" "0" "c.3409G>A" "r.(?)" "p.(Val1137Ile)" "" "0000547518" "00001877" "10" "3409" "0" "3409" "0" "c.3409G>A" "r.(?)" "p.(Val1137Ile)" "" "0000547519" "00001877" "10" "3409" "0" "3409" "0" "c.3409G>A" "r.(?)" "p.(Val1137Ile)" "" "0000547520" "00001877" "50" "3398" "0" "3398" "0" "c.3398C>T" "r.(?)" "p.(Pro1133Leu)" "" "0000547521" "00001877" "70" "3346" "0" "3346" "0" "c.3346C>G" "r.(?)" "p.(Arg1116Gly)" "" "0000547522" "00001877" "30" "3316" "-4" "3316" "-4" "c.3316-4A>C" "r.spl?" "p.?" "" "0000547523" "00001877" "30" "3316" "-4" "3316" "-4" "c.3316-4A>C" "r.spl?" "p.?" "" "0000547524" "00001877" "50" "3283" "0" "3283" "0" "c.3283C>T" "r.(?)" "p.(Arg1095Cys)" "" "0000547525" "00001877" "50" "3265" "0" "3265" "0" "c.3265del" "r.(?)" "p.(Leu1089TrpfsTer3)" "" "0000547526" "00001877" "50" "3221" "0" "3221" "0" "c.3221A>G" "r.(?)" "p.(Asn1074Ser)" "" "0000547527" "00001877" "50" "3221" "0" "3221" "0" "c.3221A>G" "r.(?)" "p.(Asn1074Ser)" "" "0000547528" "00001877" "50" "3221" "0" "3221" "0" "c.3221A>G" "r.(?)" "p.(Asn1074Ser)" "" "0000547529" "00001877" "50" "3221" "0" "3221" "0" "c.3221A>G" "r.(?)" "p.(Asn1074Ser)" "" "0000547530" "00001877" "50" "3175" "0" "3175" "0" "c.3175T>C" "r.(?)" "p.(Trp1059Arg)" "" "0000547531" "00001877" "50" "3168" "0" "3173" "0" "c.3168_3173del" "r.(?)" "p.(Val1057_Glu1058del)" "" "0000547532" "00001877" "50" "3164" "0" "3166" "0" "c.3164_3166del" "r.(?)" "p.(Leu1055_Thr1056delinsPro)" "" "0000547533" "00001877" "30" "3070" "0" "3070" "0" "c.3070A>G" "r.(?)" "p.(Ile1024Val)" "" "0000547534" "00001877" "30" "3070" "0" "3070" "0" "c.3070A>G" "r.(?)" "p.(Ile1024Val)" "" "0000547535" "00001877" "50" "3059" "0" "3059" "0" "c.3059C>T" "r.(?)" "p.(Ser1020Leu)" "" "0000547536" "00001877" "50" "2927" "0" "2927" "0" "c.2927A>T" "r.(?)" "p.(Lys976Ile)" "" "0000547537" "00001877" "30" "2867" "-5" "2867" "-5" "c.2867-5T>C" "r.spl?" "p.?" "" "0000547538" "00001877" "30" "2867" "-5" "2867" "-5" "c.2867-5T>C" "r.spl?" "p.?" "" "0000547539" "00001877" "50" "2770" "-13" "2770" "-13" "c.2770-13A>G" "r.(=)" "p.(=)" "" "0000547540" "00001877" "30" "2770" "-13" "2770" "-13" "c.2770-13A>G" "r.(=)" "p.(=)" "" "0000547541" "00001877" "30" "2652" "0" "2652" "0" "c.2652C>T" "r.(?)" "p.(Ala884=)" "" "0000547542" "00001877" "30" "2643" "11" "2643" "11" "c.2643+11A>G" "r.(=)" "p.(=)" "" "0000547543" "00001877" "10" "2631" "0" "2631" "0" "c.2631G>A" "r.(?)" "p.(Thr877=)" "" "0000547544" "00001877" "10" "2631" "0" "2631" "0" "c.2631G>A" "r.(?)" "p.(Thr877=)" "" "0000547546" "00001877" "50" "2424" "6" "2424" "6" "c.2424+6C>G" "r.(=)" "p.(=)" "" "0000547547" "00001877" "50" "2275" "0" "2275" "0" "c.2275C>T" "r.(?)" "p.(Pro759Ser)" "" "0000547548" "00001877" "30" "2275" "0" "2275" "0" "c.2275C>T" "r.(?)" "p.(Pro759Ser)" "" "0000547549" "00001877" "10" "2238" "-1" "2238" "-1" "c.2238-1G>A" "r.spl?" "p.?" "" "0000547550" "00001877" "30" "2238" "-1" "2238" "-1" "c.2238-1G>A" "r.spl?" "p.?" "" "0000547551" "00001877" "30" "2238" "-1" "2238" "-1" "c.2238-1G>A" "r.spl?" "p.?" "" "0000547552" "00001877" "10" "2238" "-17" "2238" "-17" "c.2238-17del" "r.(=)" "p.(=)" "" "0000547553" "00001877" "10" "2238" "-17" "2238" "-17" "c.2238-17dup" "r.(=)" "p.(=)" "" "0000547554" "00001877" "30" "2093" "-7" "2093" "-7" "c.2093-7T>C" "r.(=)" "p.(=)" "" "0000547555" "00001877" "50" "2023" "0" "2023" "0" "c.2023A>G" "r.(?)" "p.(Thr675Ala)" "" "0000547556" "00001877" "50" "2023" "0" "2023" "0" "c.2023A>G" "r.(?)" "p.(Thr675Ala)" "" "0000547557" "00001877" "50" "2023" "0" "2023" "0" "c.2023A>G" "r.(?)" "p.(Thr675Ala)" "" "0000547558" "00001877" "10" "2020" "-6" "2020" "-6" "c.2020-6T>C" "r.(=)" "p.(=)" "" "0000547560" "00001877" "30" "1914" "0" "1914" "0" "c.1914G>A" "r.(?)" "p.(Gln638=)" "" "0000547561" "00001877" "50" "1885" "0" "1885" "0" "c.1885G>C" "r.(?)" "p.(Glu629Gln)" "" "0000547562" "00001877" "50" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Asp617Asn)" "" "0000547563" "00001877" "30" "1845" "0" "1845" "0" "c.1845T>C" "r.(?)" "p.(Gly615=)" "" "0000547564" "00001877" "10" "1677" "0" "1677" "0" "c.1677G>A" "r.(?)" "p.(Ala559=)" "" "0000547565" "00001877" "30" "1677" "0" "1677" "0" "c.1677G>A" "r.(?)" "p.(Ala559=)" "" "0000547566" "00001877" "30" "1677" "0" "1677" "0" "c.1677G>A" "r.(?)" "p.(Ala559=)" "" "0000547567" "00001877" "10" "1659" "18" "1659" "18" "c.1659+18T>C" "r.(=)" "p.(=)" "" "0000547568" "00001877" "30" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Glu519=)" "" "0000547569" "00001877" "30" "1416" "0" "1416" "0" "c.1416T>C" "r.(?)" "p.(Phe472=)" "" "0000547570" "00001877" "30" "1416" "0" "1416" "0" "c.1416T>C" "r.(?)" "p.(Phe472=)" "" "0000547571" "00001877" "50" "1256" "0" "1256" "0" "c.1256T>C" "r.(?)" "p.(Ile419Thr)" "" "0000547572" "00001877" "50" "1186" "0" "1186" "0" "c.1186C>A" "r.(?)" "p.(Leu396Ile)" "" "0000547573" "00001877" "30" "1165" "-1" "1165" "-1" "c.1165-1G>T" "r.spl?" "p.?" "" "0000547574" "00001877" "30" "1165" "-2" "1165" "-2" "c.1165-2A>T" "r.spl?" "p.?" "" "0000547575" "00001877" "30" "1165" "-4" "1165" "-4" "c.1165-4G>T" "r.spl?" "p.?" "" "0000547576" "00001877" "30" "1165" "-5" "1165" "-5" "c.1165-5G>T" "r.spl?" "p.?" "" "0000547577" "00001877" "10" "1165" "-8" "1165" "-6" "c.1165-8_1165-6del" "r.(=)" "p.(=)" "" "0000547578" "00001877" "10" "1165" "-7" "1165" "-6" "c.1165-7_1165-6del" "r.(=)" "p.(=)" "" "0000547580" "00001877" "10" "1165" "-6" "1165" "-6" "c.1165-6del" "r.(=)" "p.(=)" "" "0000547581" "00001877" "30" "1165" "-6" "1165" "-6" "c.1165-6del" "r.(=)" "p.(=)" "" "0000547582" "00001877" "10" "1165" "-6" "1165" "-6" "c.1165-6dup" "r.(=)" "p.(=)" "" "0000547583" "00001877" "10" "1165" "-6" "1165" "-6" "c.1165-6dup" "r.(=)" "p.(=)" "" "0000547584" "00001877" "30" "1165" "-6" "1165" "-6" "c.1165-6dup" "r.(=)" "p.(=)" "" "0000547585" "00001877" "10" "1165" "-6" "1165" "-6" "c.1165-6dup" "r.(=)" "p.(=)" "" "0000547586" "00001877" "10" "1164" "23" "1164" "23" "c.1164+23C>A" "r.(=)" "p.(=)" "" "0000547587" "00001877" "10" "1164" "23" "1164" "23" "c.1164+23C>A" "r.(=)" "p.(=)" "" "0000547588" "00001877" "30" "1092" "0" "1092" "0" "c.1092G>T" "r.(?)" "p.(Leu364=)" "" "0000547589" "00001877" "50" "1092" "0" "1092" "0" "c.1092G>T" "r.(?)" "p.(Leu364=)" "" "0000547590" "00001877" "30" "957" "0" "957" "0" "c.957T>C" "r.(?)" "p.(Ser319=)" "" "0000547591" "00001877" "50" "873" "0" "874" "0" "c.873_874dup" "r.(?)" "p.(Ala292GlufsTer31)" "" "0000547593" "00001877" "50" "822" "0" "822" "0" "c.822dup" "r.(?)" "p.(Val275SerfsTer26)" "" "0000547594" "00001877" "30" "817" "-3" "817" "-3" "c.817-3C>T" "r.spl?" "p.?" "" "0000547595" "00001877" "30" "817" "-7" "817" "-7" "c.817-7del" "r.(=)" "p.(=)" "" "0000547596" "00001877" "10" "817" "-18" "817" "-18" "c.817-18dup" "r.(=)" "p.(=)" "" "0000547597" "00001877" "10" "817" "-18" "817" "-18" "c.817-18dup" "r.(=)" "p.(=)" "" "0000547598" "00001877" "10" "817" "-18" "817" "-18" "c.817-18dup" "r.(=)" "p.(=)" "" "0000547599" "00001877" "10" "407" "-14" "407" "-14" "c.407-14C>A" "r.(=)" "p.(=)" "" "0000547600" "00001877" "10" "407" "-14" "407" "-14" "c.407-14C>A" "r.(=)" "p.(=)" "" "0000547601" "00001877" "30" "407" "-14" "407" "-14" "c.407-14C>A" "r.(=)" "p.(=)" "" "0000547602" "00001877" "10" "407" "-14" "407" "-14" "c.407-14C>A" "r.(=)" "p.(=)" "" "0000547603" "00001877" "30" "372" "0" "372" "0" "c.372T>C" "r.(?)" "p.(Asn124=)" "" "0000547604" "00001877" "10" "372" "0" "372" "0" "c.372T>C" "r.(?)" "p.(Asn124=)" "" "0000547606" "00001877" "50" "305" "0" "305" "0" "c.305T>C" "r.(?)" "p.(Leu102Pro)" "" "0000547607" "00001877" "30" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97Gln)" "" "0000547608" "00001877" "10" "285" "-16" "285" "-16" "c.285-16G>A" "r.(=)" "p.(=)" "" "0000547609" "00001877" "50" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Glu86Lys)" "" "0000547610" "00001877" "10" "142" "15" "142" "15" "c.142+15dup" "r.(=)" "p.(=)" "" "0000547611" "00001877" "30" "142" "15" "142" "15" "c.142+15dup" "r.(=)" "p.(=)" "" "0000547612" "00001877" "30" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Asn16=)" "" "0000579068" "00001877" "90" "1320" "1" "1320" "1" "c.1320+1G>A" "r.spl" "p.?" "" "0000614003" "00001877" "30" "8768" "0" "8768" "0" "c.*4118C>T" "r.(=)" "p.(=)" "" "0000614004" "00001877" "50" "4569" "0" "4570" "0" "c.4569_4570insAAA" "r.(?)" "p.(Ile1523_Leu1524insLys)" "" "0000614005" "00001877" "30" "4512" "7" "4512" "7" "c.4512+7A>G" "r.(=)" "p.(=)" "" "0000614006" "00001877" "30" "4512" "7" "4512" "7" "c.4512+7A>G" "r.(=)" "p.(=)" "" "0000614007" "00001877" "30" "4189" "0" "4189" "0" "c.4189A>G" "r.(?)" "p.(Ile1397Val)" "" "0000614008" "00001877" "30" "4026" "0" "4026" "0" "c.4026G>T" "r.(?)" "p.(Val1342=)" "" "0000614009" "00001877" "50" "4006" "0" "4006" "0" "c.4006A>C" "r.(?)" "p.(Ile1336Leu)" "" "0000614010" "00001877" "30" "3669" "0" "3669" "0" "c.3669G>A" "r.(?)" "p.(Thr1223=)" "" "0000614011" "00001877" "50" "3640" "0" "3640" "0" "c.3640G>A" "r.(?)" "p.(Ala1214Thr)" "" "0000614012" "00001877" "50" "3479" "0" "3479" "0" "c.3479T>G" "r.(?)" "p.(Leu1160Arg)" "" "0000614013" "00001877" "30" "2865" "0" "2865" "0" "c.2865A>T" "r.(?)" "p.(Glu955Asp)" "" "0000614014" "00001877" "10" "2644" "-11" "2644" "-11" "c.2644-11G>A" "r.(=)" "p.(=)" "" "0000614015" "00001877" "30" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Ile)" "" "0000614016" "00001877" "10" "2523" "0" "2523" "0" "c.2523C>T" "r.(?)" "p.(Ala841=)" "" "0000614017" "00001877" "30" "2275" "0" "2275" "0" "c.2275C>T" "r.(?)" "p.(Pro759Ser)" "" "0000614018" "00001877" "30" "2238" "-16" "2238" "-16" "c.2238-16C>T" "r.(=)" "p.(=)" "" "0000614020" "00001877" "30" "1909" "0" "1909" "0" "c.1909G>A" "r.(?)" "p.(Val637Ile)" "" "0000614021" "00001877" "30" "1887" "0" "1887" "0" "c.1887G>T" "r.(?)" "p.(Glu629Asp)" "" "0000614022" "00001877" "50" "1858" "0" "1858" "0" "c.1858C>T" "r.(?)" "p.(Arg620Ter)" "" "0000614023" "00001877" "30" "1803" "-18" "1803" "-18" "c.1803-18G>A" "r.(=)" "p.(=)" "" "0000614024" "00001877" "10" "1602" "0" "1602" "0" "c.1602A>G" "r.(?)" "p.(Leu534=)" "" "0000614025" "00001877" "30" "1416" "0" "1416" "0" "c.1416T>C" "r.(?)" "p.(Phe472=)" "" "0000614026" "00001877" "30" "1365" "0" "1365" "0" "c.1365T>C" "r.(?)" "p.(Ser455=)" "" "0000614027" "00001877" "50" "1278" "0" "1278" "0" "c.1278G>T" "r.(?)" "p.(Trp426Cys)" "" "0000614028" "00001877" "30" "1165" "-5" "1165" "-5" "c.1165-5G>T" "r.spl?" "p.?" "" "0000614029" "00001877" "30" "1137" "0" "1137" "0" "c.1137T>C" "r.(?)" "p.(Thr379=)" "" "0000614030" "00001877" "10" "924" "0" "924" "0" "c.924T>C" "r.(?)" "p.(Asp308=)" "" "0000614031" "00001877" "10" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Cys263=)" "" "0000614032" "00001877" "10" "407" "-14" "407" "-14" "c.407-14C>A" "r.(=)" "p.(=)" "" "0000614033" "00001877" "30" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Asn16=)" "" "0000622852" "00001877" "30" "4450" "-6" "4450" "-5" "c.4450-6_4450-5del" "r.spl?" "p.?" "" "0000622853" "00001877" "10" "3993" "0" "3993" "0" "c.3993C>T" "r.(?)" "p.(His1331=)" "" "0000622854" "00001877" "30" "3993" "0" "3993" "0" "c.3993C>T" "r.(?)" "p.(His1331=)" "" "0000622855" "00001877" "30" "2856" "0" "2856" "0" "c.2856C>T" "r.(?)" "p.(Asp952=)" "" "0000622856" "00001877" "70" "1858" "0" "1858" "0" "c.1858C>T" "r.(?)" "p.(Arg620Ter)" "" "0000622857" "00001877" "30" "372" "0" "372" "0" "c.372T>C" "r.(?)" "p.(Asn124=)" "" "0000631867" "00001877" "70" "3190" "0" "3190" "0" "c.3190G>C" "r.(?)" "p.(Ala1064Pro)" "" "0000631868" "00001877" "90" "3461" "0" "3461" "0" "c.3461G>A" "r.(?)" "p.(Arg1154Gln)" "" "0000631876" "00001877" "90" "3605" "0" "3605" "0" "c.3605C>T" "r.(?)" "p.(Thr1202Met)" "" "0000631877" "00001877" "90" "3605" "0" "3605" "0" "c.3605C>T" "r.(?)" "p.(Thr1202Met)" "" "0000631908" "00001877" "90" "1320" "1" "1320" "1" "c.1320+1G>A" "r.1165_1320del" "p.Ala389_Gln440del" "" "0000631909" "00001877" "90" "1320" "1" "1320" "1" "c.1320+1G>A" "r.1165_1320del" "p.Ala389_Gln440del" "" "0000645467" "00001877" "90" "3461" "0" "3461" "0" "c.3461G>A" "r.(?)" "p.(Arg1154Gln)" "" "0000645468" "00001877" "70" "3590" "0" "3590" "0" "c.3590G>A" "r.(?)" "p.(Arg1197His)" "" "0000645470" "00001877" "70" "776" "0" "776" "0" "c.776C>A" "r.(?)" "p.(Thr259Lys)" "" "0000645471" "00001877" "70" "755" "0" "755" "0" "c.755C>T" "r.(?)" "p.(Pro252Leu)" "" "0000648525" "00001877" "50" "2862" "0" "2862" "0" "c.2862C>T" "r.(=)" "p.(=)" "" "0000648526" "00001877" "50" "2238" "-1" "2238" "-1" "c.2238-1G>A" "r.spl?" "p.?" "" "0000653400" "00001877" "70" "3590" "0" "3590" "0" "c.3590G>A" "r.(?)" "p.(Arg1197His)" "" "0000657068" "00001877" "30" "1950" "0" "1950" "0" "c.1950T>C" "r.(?)" "p.(Tyr650=)" "" "0000679460" "00001877" "10" "4062" "0" "4062" "0" "c.4062G>A" "r.(?)" "p.(Ser1354=)" "" "0000679461" "00001877" "70" "2425" "-1" "2425" "-1" "c.2425-1G>T" "r.spl?" "p.?" "" "0000679462" "00001877" "50" "2262" "0" "2262" "0" "c.2262T>C" "r.(?)" "p.(Tyr754=)" "" "0000679463" "00001877" "30" "1887" "0" "1887" "0" "c.1887G>T" "r.(?)" "p.(Glu629Asp)" "" "0000679464" "00001877" "30" "1802" "5" "1802" "5" "c.1802+5G>T" "r.spl?" "p.?" "" "0000679465" "00001877" "50" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Ala595Thr)" "" "0000679466" "00001877" "10" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Glu519=)" "" "0000679467" "00001877" "30" "1200" "0" "1200" "0" "c.1200G>A" "r.(?)" "p.(Thr400=)" "" "0000679468" "00001877" "30" "1137" "0" "1137" "0" "c.1137T>C" "r.(?)" "p.(Thr379=)" "" "0000691315" "00001877" "30" "4542" "0" "4542" "0" "c.4542C>A" "r.(?)" "p.(Gly1514=)" "" "0000691316" "00001877" "10" "102" "0" "102" "0" "c.102T>C" "r.(?)" "p.(His34=)" "" "0000698211" "00001877" "90" "3347" "0" "3347" "0" "c.3347G>A" "r.(?)" "p.(Arg1116His)" "" "0000701485" "00001877" "70" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Gln57*)" "" "0000701486" "00001877" "50" "1142" "0" "1142" "0" "c.1142T>A" "r.(?)" "p.(Ile381Asn)" "" "0000701487" "00001877" "50" "1358" "0" "1358" "0" "c.1358G>C" "r.(?)" "p.(Gly453Ala)" "" "0000701488" "00001877" "50" "1987" "0" "1987" "0" "c.1987C>T" "r.(?)" "p.(Arg663Cys)" "" "0000701489" "00001877" "50" "2000" "0" "2000" "0" "c.2000C>A" "r.(?)" "p.(Thr667Lys)" "" "0000701490" "00001877" "50" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Ala717Thr)" "" "0000701491" "00001877" "50" "4352" "0" "4352" "0" "c.4352T>C" "r.(?)" "p.(Val1451Ala)" "" "0000701492" "00001877" "50" "4613" "0" "4613" "0" "c.4613A>G" "r.(?)" "p.(Asn1538Ser)" "" "0000704357" "00001877" "50" "3913" "0" "3913" "0" "c.3913C>T" "r.(?)" "p.(His1305Tyr)" "" "0000723975" "00001877" "30" "3729" "0" "3729" "0" "c.3729G>A" "r.(?)" "p.(Ser1243=)" "" "0000723976" "00001877" "30" "3669" "9" "3669" "9" "c.3669+9A>G" "r.(=)" "p.(=)" "" "0000723977" "00001877" "50" "3640" "0" "3640" "0" "c.3640G>A" "r.(?)" "p.(Ala1214Thr)" "" "0000723978" "00001877" "30" "3331" "0" "3331" "0" "c.3331T>C" "r.(?)" "p.(Leu1111=)" "" "0000723979" "00001877" "50" "3139" "0" "3139" "0" "c.3139A>G" "r.(?)" "p.(Ile1047Val)" "" "0000723980" "00001877" "50" "2890" "0" "2890" "0" "c.2890G>A" "r.(?)" "p.(Asp964Asn)" "" "0000723981" "00001877" "10" "2644" "-19" "2644" "-19" "c.2644-19G>A" "r.(=)" "p.(=)" "" "0000723982" "00001877" "30" "1909" "0" "1909" "0" "c.1909G>A" "r.(?)" "p.(Val637Ile)" "" "0000805661" "00001877" "50" "4189" "0" "4189" "0" "c.4189A>G" "r.(?)" "p.(Ile1397Val)" "" "0000805662" "00001877" "10" "4023" "12" "4023" "12" "c.4023+12C>T" "r.(=)" "p.(=)" "" "0000805663" "00001877" "50" "4018" "0" "4018" "0" "c.4018C>A" "r.(?)" "p.(Gln1340Lys)" "" "0000805664" "00001877" "50" "3559" "0" "3559" "0" "c.3559G>T" "r.(?)" "p.(Ala1187Ser)" "" "0000805665" "00001877" "10" "3315" "17" "3315" "17" "c.3315+17C>T" "r.(=)" "p.(=)" "" "0000805666" "00001877" "50" "2474" "0" "2474" "0" "c.2474C>T" "r.(?)" "p.(Ala825Val)" "" "0000805667" "00001877" "50" "1619" "-3" "1619" "-3" "c.1619-3C>G" "r.spl?" "p.?" "" "0000805668" "00001877" "30" "1456" "-3" "1456" "-3" "c.1456-3T>C" "r.spl?" "p.?" "" "0000805669" "00001877" "10" "1416" "0" "1416" "0" "c.1416T>C" "r.(?)" "p.(Phe472=)" "" "0000805670" "00001877" "50" "674" "0" "674" "0" "c.674A>C" "r.(?)" "p.(Lys225Thr)" "" "0000853342" "00001877" "50" "4570" "0" "4572" "0" "c.4570_4572delinsAAAT" "r.(?)" "p.(Leu1524LysfsTer5)" "" "0000853343" "00001877" "30" "4450" "-4" "4450" "-3" "c.4450-4_4450-3insT" "r.spl?" "p.?" "" "0000853344" "00001877" "50" "3892" "1" "3892" "1" "c.3892+1G>A" "r.spl?" "p.?" "" "0000853345" "00001877" "50" "3425" "0" "3425" "0" "c.3425T>C" "r.(?)" "p.(Leu1142Pro)" "" "0000853346" "00001877" "50" "2213" "0" "2213" "0" "c.2213A>G" "r.(?)" "p.(Glu738Gly)" "" "0000853347" "00001877" "50" "1987" "0" "1987" "0" "c.1987C>T" "r.(?)" "p.(Arg663Cys)" "" "0000862942" "00001877" "10" "3729" "0" "3729" "0" "c.3729G>A" "r.(?)" "p.(Ser1243=)" "" "0000862943" "00001877" "30" "3409" "0" "3409" "0" "c.3409G>A" "r.(?)" "p.(Val1137Ile)" "" "0000862944" "00001877" "30" "1848" "0" "1848" "0" "c.1848C>T" "r.(?)" "p.(Asp616=)" "" "0000862945" "00001877" "30" "798" "0" "798" "0" "c.798T>C" "r.(?)" "p.(Asp266=)" "" "0000878774" "00001877" "50" "82" "0" "82" "0" "c.82G>T" "r.(?)" "p.(Ala28Ser)" "" "0000890484" "00001877" "30" "4513" "-4" "4513" "-4" "c.4513-4C>T" "r.spl?" "p.?" "" "0000890485" "00001877" "50" "4189" "0" "4189" "0" "c.4189A>G" "r.(?)" "p.(Ile1397Val)" "" "0000890486" "00001877" "90" "4039" "0" "4039" "0" "c.4039C>T" "r.(?)" "p.(Arg1347Cys)" "" "0000890487" "00001877" "30" "3768" "0" "3768" "0" "c.3768T>C" "r.(?)" "p.(Leu1256=)" "" "0000890488" "00001877" "70" "3284" "0" "3284" "0" "c.3284G>A" "r.(?)" "p.(Arg1095His)" "" "0000890489" "00001877" "50" "2863" "0" "2863" "0" "c.2863G>C" "r.(?)" "p.(Glu955Gln)" "" "0000890490" "00001877" "10" "2157" "0" "2157" "0" "c.2157C>T" "r.(?)" "p.(Leu719=)" "" "0000890491" "00001877" "30" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Glu519=)" "" "0000890492" "00001877" "30" "406" "2115" "406" "2115" "c.406+2115T>C" "r.(=)" "p.(=)" "" "0000890493" "00001877" "30" "75" "0" "75" "0" "c.75T>C" "r.(?)" "p.(Phe25=)" "" "0000909448" "00001877" "90" "1320" "1" "1320" "1" "c.1320+1G>A" "r.spl" "p.?" "" "0000909449" "00001877" "90" "2812" "0" "2812" "0" "c.2812C>T" "r.(?)" "p.(Arg938*)" "" "0000909451" "00001877" "90" "4212" "-1" "4212" "-1" "c.4212-1G>T" "r.spl" "p.?" "" "0000909452" "00001877" "90" "1858" "0" "1858" "0" "c.1858C>T" "r.(?)" "p.(Arg620*)" "" "0000913809" "00001877" "10" "4179" "0" "4179" "0" "c.4179G>T" "r.(?)" "p.(Leu1393=)" "" "0000913810" "00001877" "50" "3413" "0" "3413" "0" "c.3413C>T" "r.(?)" "p.(Ala1138Val)" "" "0000913811" "00001877" "10" "2644" "-19" "2644" "-19" "c.2644-19G>A" "r.(=)" "p.(=)" "" "0000913812" "00001877" "10" "2238" "-17" "2238" "-17" "c.2238-17del" "r.(=)" "p.(=)" "" "0000913813" "00001877" "50" "2228" "0" "2228" "0" "c.2228C>A" "r.(?)" "p.(Ala743Glu)" "" "0000927832" "00001877" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Gln412*)" "" "0000927833" "00001877" "90" "284" "1" "284" "1" "c.284+1G>A" "r.spl" "p.?" "" "0000927834" "00001877" "90" "3747" "0" "3747" "0" "c.3747del" "r.(?)" "p.(Leu1250Trpfs*9)" "" "0000930059" "00001877" "50" "3398" "0" "3398" "0" "c.3398C>T" "r.(?)" "p.(Pro1133Leu)" "" "0000930060" "00001877" "10" "2199" "-19" "2199" "-19" "c.2199-19T>C" "r.(=)" "p.(=)" "" "0000930061" "00001877" "10" "816" "11" "816" "11" "c.816+11G>A" "r.(=)" "p.(=)" "" "0000939847" "00001877" "70" "1703" "0" "1703" "0" "c.1703C>T" "r.(?)" "p.(Pro568Leu)" "12" "0000949925" "00001877" "90" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(His60Tyr)" "" "0000954078" "00001877" "90" "0" "0" "0" "0" "c.-20_4650{0}" "r.0" "p.0" "_1_38_" "0000957735" "00001877" "10" "3768" "0" "3768" "0" "c.3768T>C" "r.(?)" "p.(Leu1256=)" "" "0000957861" "00001877" "70" "3757" "0" "3757" "0" "c.3757C>G" "r.(?)" "p.(Leu1253Val)" "" "0000980185" "00001877" "30" "4688" "0" "4688" "0" "c.*38G>A" "r.(=)" "p.(=)" "" "0000980186" "00001877" "50" "2891" "0" "2891" "0" "c.2891A>T" "r.(?)" "p.(Asp964Val)" "" "0000980187" "00001877" "10" "2523" "0" "2523" "0" "c.2523C>T" "r.(?)" "p.(Ala841=)" "" "0000980188" "00001877" "50" "2282" "0" "2289" "0" "c.2282_2289del" "r.(?)" "p.(Leu761Argfs*14)" "" "0000980189" "00001877" "30" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Val734Ile)" "" "0000999892" "00001877" "50" "8754" "0" "8754" "0" "c.*4104G>T" "r.(=)" "p.(=)" "" "0000999893" "00001877" "30" "3708" "0" "3708" "0" "c.3708A>G" "r.(?)" "p.(Ile1236Met)" "" "0000999894" "00001877" "50" "3640" "0" "3640" "0" "c.3640G>A" "r.(?)" "p.(Ala1214Thr)" "" "0000999895" "00001877" "30" "3574" "0" "3574" "0" "c.3574A>G" "r.(?)" "p.(Thr1192Ala)" "" "0000999896" "00001877" "50" "3557" "0" "3557" "0" "c.3557G>A" "r.(?)" "p.(Arg1186Gln)" "" "0000999897" "00001877" "30" "3401" "0" "3401" "0" "c.3401T>G" "r.(?)" "p.(Val1134Gly)" "" "0000999898" "00001877" "30" "2275" "0" "2275" "0" "c.2275C>T" "r.(?)" "p.(Pro759Ser)" "" "0000999899" "00001877" "10" "2262" "0" "2262" "0" "c.2262T>C" "r.(?)" "p.(Tyr754=)" "" "0000999900" "00001877" "30" "2198" "4" "2198" "4" "c.2198+4T>C" "r.spl?" "p.?" "" "0000999901" "00001877" "50" "2050" "0" "2050" "0" "c.2050G>T" "r.(?)" "p.(Gly684Cys)" "" "0000999902" "00001877" "50" "2043" "0" "2043" "0" "c.2043G>A" "r.(?)" "p.(Trp681*)" "" "0000999903" "00001877" "50" "1987" "0" "1987" "0" "c.1987C>T" "r.(?)" "p.(Arg663Cys)" "" "0000999904" "00001877" "30" "1887" "0" "1887" "0" "c.1887G>T" "r.(?)" "p.(Glu629Asp)" "" "0000999905" "00001877" "50" "1129" "0" "1129" "0" "c.1129A>G" "r.(?)" "p.(Ile377Val)" "" "0000999906" "00001877" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Gly171Ser)" "" "0001014949" "00001877" "50" "4569" "0" "4570" "0" "c.4569_4570insAAA" "r.(?)" "p.(Ile1523_Leu1524insLys)" "" "0001014950" "00001877" "30" "4344" "0" "4344" "0" "c.4344T>C" "r.(?)" "p.(=)" "" "0001014951" "00001877" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Pro1108Ser)" "" "0001014952" "00001877" "30" "3316" "-4" "3316" "-4" "c.3316-4A>C" "r.spl?" "p.?" "" "0001014953" "00001877" "50" "1987" "0" "1987" "0" "c.1987C>T" "r.(?)" "p.(Arg663Cys)" "" "0001026146" "00001877" "30" "4450" "-5" "4450" "-5" "c.4450-5del" "r.spl?" "p.?" "" "0001026147" "00001877" "50" "2238" "-1" "2238" "-1" "c.2238-1G>A" "r.spl?" "p.?" "" "0001026148" "00001877" "50" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Val113Ile)" "" "0001030266" "00001877" "90" "2881" "0" "2881" "0" "c.2881del" "r.(2881del)" "p.(Glu961Lysfs*10)" "" "0001030267" "00001877" "90" "3269" "0" "3269" "0" "c.3269del" "r.(3269del)" "p.(Gly1090Aspfs*2)" "" "0001030268" "00001877" "90" "1803" "-1" "4102" "1" "c.(?_1803-1)_(4102+1_?)del" "r.?" "p.?" "" "0001030269" "00001877" "90" "4018" "0" "4018" "0" "c.4018C>T" "r.(?)" "p.(Gln1340*)" "" "0001030270" "00001877" "90" "1828" "0" "1829" "0" "c.1828_1829del" "r.(1828_1829del)" "p.(Leu610Glufs*2)" "" "0001039127" "00001877" "50" "3125" "0" "3125" "0" "c.3125T>A" "r.(?)" "p.(Leu1042His)" "" "0001039128" "00001877" "50" "2456" "0" "2456" "0" "c.2456G>C" "r.(?)" "p.(Arg819Thr)" "" "0001039129" "00001877" "50" "2199" "-6" "2199" "-6" "c.2199-6T>C" "r.(=)" "p.(=)" "" "0001039130" "00001877" "50" "2191" "0" "2191" "0" "c.2191T>G" "r.(?)" "p.(Trp731Gly)" "" "0001039131" "00001877" "50" "2023" "0" "2023" "0" "c.2023A>G" "r.(?)" "p.(Thr675Ala)" "" "0001039132" "00001877" "50" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Asp617Asn)" "" "0001039133" "00001877" "30" "1660" "-5" "1660" "-5" "c.1660-5C>A" "r.spl?" "p.?" "" "0001039134" "00001877" "50" "1329" "0" "1329" "0" "c.1329G>T" "r.(?)" "p.(Met443Ile)" "" "0001039135" "00001877" "30" "528" "0" "528" "0" "c.528G>A" "r.(?)" "p.(=)" "" "0001039136" "00001877" "50" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Trp49*)" "" "0001054249" "00001877" "30" "3567" "-124" "3567" "-124" "c.3567-124A>C" "r.(=)" "p.(=)" "" "0001054250" "00001877" "10" "3321" "0" "3321" "0" "c.3321C>T" "r.(?)" "p.(Ile1107=)" "" "0001054251" "00001877" "50" "2867" "-9" "2867" "-9" "c.2867-9del" "r.(=)" "p.(=)" "" "0001054252" "00001877" "30" "2424" "9" "2424" "9" "c.2424+9T>C" "r.(=)" "p.(=)" "" "0001054253" "00001877" "50" "2293" "0" "2293" "0" "c.2293A>G" "r.(?)" "p.(Thr765Ala)" "" "0001054254" "00001877" "50" "1603" "0" "1603" "0" "c.1603T>C" "r.(?)" "p.(Tyr535His)" "" "0001054255" "00001877" "50" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Gly459Asp)" "" "0001054256" "00001877" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Cys263=)" "" "0001058368" "00001877" "70" "3014" "0" "3014" "0" "c.3014A>T" "r.(?)" "p.(His1005Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 72 "{{screeningid}}" "{{variantid}}" "0000016263" "0000036010" "0000050335" "0000079315" "0000064876" "0000096529" "0000082035" "0000134807" "0000082036" "0000134808" "0000082037" "0000134809" "0000082038" "0000134810" "0000082039" "0000134811" "0000082040" "0000134812" "0000082041" "0000134813" "0000082042" "0000134814" "0000082043" "0000134815" "0000082044" "0000134816" "0000082045" "0000134817" "0000082046" "0000134818" "0000082047" "0000134819" "0000082048" "0000134820" "0000082049" "0000134821" "0000082050" "0000134822" "0000082051" "0000134823" "0000082052" "0000134824" "0000082053" "0000134825" "0000082054" "0000134826" "0000082055" "0000134827" "0000082056" "0000134828" "0000082057" "0000134829" "0000082058" "0000134830" "0000129244" "0000218389" "0000129321" "0000218491" "0000164757" "0000368350" "0000249988" "0000579068" "0000277135" "0000631867" "0000277136" "0000631868" "0000277146" "0000631876" "0000277147" "0000631877" "0000277164" "0000631908" "0000277165" "0000631909" "0000289496" "0000645467" "0000289497" "0000645468" "0000289498" "0000645470" "0000289500" "0000645471" "0000291836" "0000648525" "0000291837" "0000648526" "0000296704" "0000653400" "0000316085" "0000698211" "0000318879" "0000701485" "0000318880" "0000701486" "0000318881" "0000701487" "0000318882" "0000701488" "0000318883" "0000701489" "0000318884" "0000701490" "0000318885" "0000701491" "0000318886" "0000701492" "0000321474" "0000704357" "0000418871" "0000878774" "0000429819" "0000909448" "0000429821" "0000909449" "0000429822" "0000909451" "0000429823" "0000909452" "0000436710" "0000927832" "0000436711" "0000927833" "0000436712" "0000927834" "0000441905" "0000939847" "0000445893" "0000954078" "0000448328" "0000957735" "0000448454" "0000957861" "0000466317" "0001030266" "0000466318" "0001030267" "0000466319" "0001030268" "0000466320" "0001030269" "0000466320" "0001030270" "0000470246" "0001058368"