### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP2B3) # 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}}" "ATP2B3" "ATPase, Ca++ transporting, plasma membrane 3" "X" "q28" "unknown" "NG_015896.1" "UD_132118506742" "" "https://www.LOVD.nl/ATP2B3" "" "1" "816" "492" "300014" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/ATP2B3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2020-09-28 09:16:18" "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}}" "00000301" "ATP2B3" "transcript variant 1" "001" "NM_021949.3" "" "NP_068768.2" "" "" "" "-126" "6448" "3522" "152801580" "152848387" "00000" "2012-09-13 12:05:07" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04369" "SCAX1" "ataxia, spinocerebellar?, X-linked type 1 (SCAX-1)" "XLR" "302500" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05684" "neuropathy, optic" "neuropathy, optic" "" "" "" "" "" "00006" "2020-01-10 11:57:41" "00091" "2021-02-19 09:59:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ATP2B3" "04369" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00173394" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173395" "" "" "" "116" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173396" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173397" "" "" "" "111" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173398" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173497" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00181203" "" "" "" "1" "" "01836" "" "" "M" "no" "" "" "0" "" "" "" "" "00183137" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU29" "00302969" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat14" "00311372" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "" "" "" "" "" "" "ID 34" "00467792" "" "" "" "1" "" "00006" "{PMID:Charng 2016:27435318}" "2-generation family, 1 affected, unaffected parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam026PatBAB7039" "00468683" "" "" "" "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 = 13 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173394" "00187" "00173395" "00187" "00173396" "00187" "00173397" "00187" "00173398" "00187" "00173497" "00187" "00183137" "00187" "00302969" "05521" "00311372" "05684" "00467792" "05611" "00468683" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 04369, 05521, 05611, 05684 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000138258" "00187" "00173394" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138259" "00187" "00173395" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138260" "00187" "00173396" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138261" "00187" "00173397" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138262" "00187" "00173398" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138361" "00187" "00173497" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000143891" "00187" "00183137" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000230052" "05521" "00302969" "00006" "Isolated (sporadic)" "" "Epileptic Encephalopathy, Infantile Spasms; age onset infantile" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000236620" "05684" "00311372" "03763" "Isolated (sporadic)" "02y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373); Abnormality of temperature regulation (HP:0004370); Hearing impairment (HP:0000365)" "?" "" "" "" "" "" "" "" "" "" "" "" "0000352945" "05611" "00467792" "00006" "Familial, X-linked" "" "developmental delay, intellectual disability, microcephaly, abnormal cortical pattern, hypotonia, muscle atrophy, oropharyngeal dysphagia, dental caries" "" "" "" "" "" "" "" "" "" "SCAX1" "neurodevelopmental disorder" "" "0000353836" "00198" "00468683" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000174277" "00173394" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174278" "00173395" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174279" "00173396" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174280" "00173397" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174281" "00173398" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174380" "00173497" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000182161" "00181203" "1" "01836" "01836" "2018-10-04 11:13:00" "" "" "SEQ-NG" "DNA" "blood" "" "0000184095" "00183137" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000304094" "00302969" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000312540" "00311372" "1" "03763" "03763" "2020-09-23 12:13:10" "" "" "SEQ-NG" "DNA" "" "" "0000469458" "00467792" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470351" "00468683" "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 = 14 "{{screeningid}}" "{{geneid}}" "0000174277" "TXLNG" "0000174278" "CXorf58" "0000174279" "GNL3L" "0000174280" "GPR50" "0000174281" "GPR50" "0000174380" "PJA1" "0000182161" "ATP2B3" "0000182161" "GPR112" "0000182161" "NNAT" "0000182161" "USP9X" "0000184095" "MECP2" "0000304094" "ATP2B3" "0000304094" "GNAO1" "0000312540" "ATP2B3" ## 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 = 176 "{{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}}" "0000002212" "20" "50" "X" "152807505" "152807507" "del" "0" "00037" "ATP2B3_000026" "g.152807505_152807507del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542047_153542049del" "" "VUS" "" "0000002213" "20" "50" "X" "152807632" "152807632" "del" "0" "00037" "ATP2B3_000001" "g.152807632del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542174del" "" "VUS" "" "0000002214" "0" "50" "X" "152846254" "152846254" "dup" "0" "00037" "ATP2B3_000019" "g.152846254dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153580796dup" "" "VUS" "" "0000002215" "0" "50" "X" "152846253" "152846254" "dup" "0" "00037" "ATP2B3_000020" "g.152846253_152846254dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153580795_153580796dup" "" "VUS" "" "0000003314" "20" "50" "X" "152807504" "152807506" "del" "0" "00037" "ATP2B3_000075" "g.152807504_152807506del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542046_153542048del" "" "VUS" "" "0000003315" "20" "50" "X" "152807626" "152807626" "del" "0" "00037" "ATP2B3_000077" "g.152807626del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542168del" "" "VUS" "" "0000003316" "0" "50" "X" "152846254" "152846254" "dup" "0" "00037" "ATP2B3_000080" "g.152846254dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153580796dup" "" "VUS" "" "0000003317" "0" "50" "X" "152846544" "152846545" "ins" "0" "00037" "ATP2B3_000079" "g.152846544_152846545insG" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153581086_153581087insG" "" "VUS" "" "0000007986" "20" "50" "X" "152807425" "152807425" "subst" "0.766678" "00037" "ATP2B3_000024" "g.152807425G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153541967G>A" "" "VUS" "" "0000007987" "20" "50" "X" "152807665" "152807665" "subst" "0" "00037" "ATP2B3_000002" "g.152807665A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542207A>G" "" "VUS" "" "0000007988" "20" "50" "X" "152807923" "152807923" "subst" "0.997705" "00037" "ATP2B3_000003" "g.152807923G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542465G>C" "" "VUS" "" "0000007989" "20" "50" "X" "152808120" "152808120" "subst" "0" "00037" "ATP2B3_000004" "g.152808120G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542662G>A" "" "VUS" "" "0000007990" "20" "50" "X" "152815089" "152815089" "subst" "0.997487" "00037" "ATP2B3_000005" "g.152815089A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153549631A>G" "" "VUS" "" "0000007991" "20" "50" "X" "152815886" "152815886" "subst" "0" "00037" "ATP2B3_000006" "g.152815886C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153550428C>T" "" "VUS" "" "0000007992" "20" "50" "X" "152816103" "152816103" "subst" "0" "00037" "ATP2B3_000007" "g.152816103T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153550645T>C" "" "VUS" "" "0000007993" "20" "50" "X" "152818435" "152818435" "subst" "0" "00037" "ATP2B3_000008" "g.152818435G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153552977G>A" "" "VUS" "" "0000007994" "20" "50" "X" "152818890" "152818890" "subst" "0" "00037" "ATP2B3_000009" "g.152818890G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153553432G>T" "" "VUS" "" "0000007995" "20" "50" "X" "152821887" "152821887" "subst" "0.986646" "00037" "ATP2B3_000010" "g.152821887C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153556429C>T" "" "VUS" "" "0000007996" "20" "50" "X" "152823728" "152823728" "subst" "0.542364" "00037" "ATP2B3_000011" "g.152823728G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153558270G>C" "" "VUS" "" "0000007997" "20" "50" "X" "152825414" "152825414" "subst" "0.938791" "00037" "ATP2B3_000012" "g.152825414G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153559956G>T" "" "VUS" "" "0000007998" "20" "50" "X" "152825433" "152825433" "subst" "0.99687" "00037" "ATP2B3_000013" "g.152825433A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153559975A>G" "" "VUS" "" "0000007999" "20" "50" "X" "152825633" "152825633" "subst" "0" "00037" "ATP2B3_000014" "g.152825633G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153560175G>C" "" "VUS" "" "0000008000" "20" "50" "X" "152827445" "152827445" "subst" "0" "00037" "ATP2B3_000015" "g.152827445A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153561987A>G" "" "VUS" "" "0000008001" "20" "50" "X" "152830322" "152830322" "subst" "0" "00037" "ATP2B3_000016" "g.152830322A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153564864A>G" "" "VUS" "" "0000008002" "20" "50" "X" "152830684" "152830684" "subst" "0" "00037" "ATP2B3_000017" "g.152830684C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153565226C>T" "" "VUS" "" "0000008003" "20" "50" "X" "152834891" "152834891" "subst" "0" "00037" "ATP2B3_000018" "g.152834891G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153569433G>C" "" "VUS" "" "0000008004" "20" "50" "X" "152847291" "152847291" "subst" "0" "00037" "ATP2B3_000021" "g.152847291T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153581833T>C" "" "VUS" "" "0000008005" "20" "50" "X" "152847301" "152847301" "subst" "0" "00037" "ATP2B3_000022" "g.152847301G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153581843G>C" "" "VUS" "" "0000008006" "20" "50" "X" "152847488" "152847488" "subst" "0" "00037" "ATP2B3_000023" "g.152847488T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153582030T>G" "" "VUS" "" "0000010142" "20" "50" "X" "152807425" "152807425" "subst" "0.766678" "00037" "ATP2B3_000024" "g.152807425G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153541967G>A" "" "VUS" "" "0000010143" "20" "50" "X" "152807505" "152807507" "del" "0" "00037" "ATP2B3_000026" "g.152807505_152807507del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542047_153542049del" "" "VUS" "" "0000010144" "20" "50" "X" "152807632" "152807632" "del" "0" "00037" "ATP2B3_000001" "g.152807632del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542174del" "" "VUS" "" "0000010145" "20" "50" "X" "152807665" "152807665" "subst" "0" "00037" "ATP2B3_000002" "g.152807665A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542207A>G" "" "VUS" "" "0000010146" "20" "50" "X" "152807923" "152807923" "subst" "0.997705" "00037" "ATP2B3_000003" "g.152807923G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542465G>C" "" "VUS" "" "0000010147" "20" "50" "X" "152808120" "152808120" "subst" "0" "00037" "ATP2B3_000004" "g.152808120G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542662G>A" "" "VUS" "" "0000010148" "20" "50" "X" "152815089" "152815089" "subst" "0.997487" "00037" "ATP2B3_000005" "g.152815089A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153549631A>G" "" "VUS" "" "0000010149" "20" "50" "X" "152815886" "152815886" "subst" "0" "00037" "ATP2B3_000006" "g.152815886C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153550428C>T" "" "VUS" "" "0000010150" "20" "50" "X" "152818435" "152818435" "subst" "0" "00037" "ATP2B3_000008" "g.152818435G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153552977G>A" "" "VUS" "" "0000010151" "20" "50" "X" "152818890" "152818890" "subst" "0" "00037" "ATP2B3_000009" "g.152818890G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153553432G>T" "" "VUS" "" "0000010152" "20" "50" "X" "152821887" "152821887" "subst" "0.986646" "00037" "ATP2B3_000010" "g.152821887C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153556429C>T" "" "VUS" "" "0000010153" "20" "50" "X" "152823728" "152823728" "subst" "0.542364" "00037" "ATP2B3_000011" "g.152823728G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153558270G>C" "" "VUS" "" "0000010154" "20" "50" "X" "152825414" "152825414" "subst" "0.938791" "00037" "ATP2B3_000012" "g.152825414G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153559956G>T" "" "VUS" "" "0000010155" "20" "50" "X" "152825433" "152825433" "subst" "0.99687" "00037" "ATP2B3_000013" "g.152825433A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153559975A>G" "" "VUS" "" "0000010156" "20" "50" "X" "152825633" "152825633" "subst" "0" "00037" "ATP2B3_000014" "g.152825633G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153560175G>C" "" "VUS" "" "0000010157" "20" "50" "X" "152827445" "152827445" "subst" "0" "00037" "ATP2B3_000015" "g.152827445A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153561987A>G" "" "VUS" "" "0000010158" "20" "50" "X" "152830322" "152830322" "subst" "0" "00037" "ATP2B3_000016" "g.152830322A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153564864A>G" "" "VUS" "" "0000010159" "20" "50" "X" "152830684" "152830684" "subst" "0" "00037" "ATP2B3_000017" "g.152830684C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153565226C>T" "" "VUS" "" "0000010160" "20" "50" "X" "152834891" "152834891" "subst" "0" "00037" "ATP2B3_000018" "g.152834891G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153569433G>C" "" "VUS" "" "0000010161" "0" "50" "X" "152846254" "152846254" "dup" "0" "00037" "ATP2B3_000019" "g.152846254dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153580796dup" "" "VUS" "" "0000010162" "0" "50" "X" "152846545" "152846545" "subst" "0" "00037" "ATP2B3_000049" "g.152846545T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153581087T>G" "" "VUS" "" "0000010163" "0" "50" "X" "152846557" "152846557" "dup" "0" "00037" "ATP2B3_000065" "g.152846557dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153581099dup" "" "VUS" "" "0000010164" "0" "50" "X" "152846556" "152846557" "dup" "0" "00037" "ATP2B3_000066" "g.152846556_152846557dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153581098_153581099dup" "" "VUS" "" "0000010165" "20" "50" "X" "152847291" "152847291" "subst" "0" "00037" "ATP2B3_000021" "g.152847291T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153581833T>C" "" "VUS" "" "0000010166" "20" "50" "X" "152847301" "152847301" "subst" "0" "00037" "ATP2B3_000022" "g.152847301G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153581843G>C" "" "VUS" "" "0000010167" "20" "50" "X" "152847488" "152847488" "subst" "0" "00037" "ATP2B3_000023" "g.152847488T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153582030T>G" "" "VUS" "" "0000011299" "20" "50" "X" "152807504" "152807506" "del" "0" "00037" "ATP2B3_000075" "g.152807504_152807506del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542046_153542048del" "" "VUS" "" "0000011300" "20" "50" "X" "152807626" "152807626" "del" "0" "00037" "ATP2B3_000077" "g.152807626del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153542168del" "" "VUS" "" "0000011302" "0" "50" "X" "152846254" "152846254" "dup" "0" "00037" "ATP2B3_000080" "g.152846254dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153580796dup" "" "VUS" "" "0000011303" "20" "50" "X" "152846544" "152846545" "ins" "0" "00037" "ATP2B3_000079" "g.152846544_152846545insG" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153581086_153581087insG" "" "VUS" "" "0000247979" "0" "10" "X" "152815089" "152815089" "subst" "0.997487" "02325" "ATP2B3_000005" "g.152815089A>G" "" "" "" "ATP2B3(NM_021949.3):c.1473A>G (p.G491=), ATP2B3(NM_021949.4):c.1473A>G (p.G491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153549631A>G" "" "benign" "" "0000253240" "0" "10" "X" "152815089" "152815089" "subst" "0.997487" "01943" "ATP2B3_000005" "g.152815089A>G" "" "" "" "ATP2B3(NM_021949.3):c.1473A>G (p.G491=), ATP2B3(NM_021949.4):c.1473A>G (p.G491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153549631A>G" "" "benign" "" "0000254272" "0" "30" "X" "152835085" "152835085" "subst" "7.28104E-5" "01943" "ATP2B3_000113" "g.152835085A>C" "" "" "" "ATP2B3(NM_021949.3):c.3367A>C (p.R1123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153569627A>C" "" "likely benign" "" "0000255135" "0" "30" "X" "152814207" "152814207" "subst" "1.67794E-5" "01943" "ATP2B3_000091" "g.152814207A>G" "" "" "" "ATP2B3(NM_021949.3):c.1233A>G (p.V411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153548749A>G" "" "likely benign" "" "0000256033" "0" "50" "X" "152807810" "152807810" "subst" "0.00209298" "01943" "ATP2B3_000086" "g.152807810A>C" "" "" "" "ATP2B3(NM_001001344.2):c.694A>C (p.(Ile232Leu)), ATP2B3(NM_001001344.3):c.694A>C (p.I232L), ATP2B3(NM_021949.3):c.694A>C (p.I232L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153542352A>C" "" "VUS" "" "0000259185" "0" "10" "X" "152821887" "152821887" "subst" "0.986646" "02325" "ATP2B3_000010" "g.152821887C>T" "" "" "" "ATP2B3(NM_021949.3):c.2326+11C>T, ATP2B3(NM_021949.4):c.2326+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153556429C>T" "" "benign" "" "0000259186" "0" "10" "X" "152823728" "152823728" "subst" "0.542364" "02325" "ATP2B3_000011" "g.152823728G>C" "" "" "" "ATP2B3(NM_021949.3):c.2592G>C (p.V864=), ATP2B3(NM_021949.4):c.2592G>C (p.V864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153558270G>C" "" "benign" "" "0000259187" "0" "10" "X" "152825414" "152825414" "subst" "0.938791" "02325" "ATP2B3_000012" "g.152825414G>T" "" "" "" "ATP2B3(NM_021949.3):c.2839+14G>T, ATP2B3(NM_021949.4):c.2839+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153559956G>T" "" "benign" "" "0000259188" "0" "10" "X" "152827588" "152827588" "subst" "0.0120235" "02325" "ATP2B3_000107" "g.152827588C>T" "" "" "" "ATP2B3(NM_021949.3):c.3052-5C>T, ATP2B3(NM_021949.4):c.3052-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153562130C>T" "" "benign" "" "0000259189" "0" "10" "X" "152807923" "152807923" "subst" "0.997705" "02325" "ATP2B3_000003" "g.152807923G>C" "" "" "" "ATP2B3(NM_021949.3):c.790+17G>C, ATP2B3(NM_021949.4):c.790+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153542465G>C" "" "benign" "" "0000259346" "0" "30" "X" "152845611" "152845611" "subst" "0.00283119" "02325" "ATP2B3_000118" "g.152845611C>T" "" "" "" "ATP2B3(NM_001001344.2):c.3518C>T (p.A1173V, p.(Ala1173Val)), ATP2B3(NM_001001344.3):c.3518C>T (p.A1173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153580153C>T" "" "likely benign" "" "0000263259" "0" "30" "X" "152813433" "152813433" "subst" "0.000347052" "01943" "ATP2B3_000089" "g.152813433C>T" "" "" "" "ATP2B3(NM_021949.3):c.1099C>T (p.L367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153547975C>T" "" "likely benign" "" "0000263260" "0" "30" "X" "152814120" "152814120" "subst" "7.85136E-5" "01943" "ATP2B3_000090" "g.152814120C>T" "" "" "" "ATP2B3(NM_021949.3):c.1146C>T (p.T382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153548662C>T" "" "likely benign" "" "0000263261" "0" "30" "X" "152815187" "152815187" "subst" "0" "01943" "ATP2B3_000092" "g.152815187C>G" "" "" "" "ATP2B3(NM_021949.3):c.1571C>G (p.T524S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153549729C>G" "" "likely benign" "" "0000263262" "0" "30" "X" "152815602" "152815602" "subst" "0.000111898" "01943" "ATP2B3_000094" "g.152815602G>A" "" "" "" "ATP2B3(NM_021949.3):c.1681G>A (p.V561M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153550144G>A" "" "likely benign" "" "0000263263" "0" "30" "X" "152815684" "152815684" "subst" "0.000279903" "01943" "ATP2B3_000095" "g.152815684G>A" "" "" "" "ATP2B3(NM_001001344.2):c.1763G>A (p.(Arg588His)), ATP2B3(NM_021949.3):c.1763G>A (p.R588H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153550226G>A" "" "likely benign" "" "0000263264" "0" "30" "X" "152818521" "152818521" "subst" "7.8672E-5" "01943" "ATP2B3_000096" "g.152818521G>A" "" "" "" "ATP2B3(NM_001001344.2):c.1852G>A (p.(Glu618Lys)), ATP2B3(NM_021949.3):c.1852G>A (p.E618K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153553063G>A" "" "likely benign" "" "0000263265" "0" "50" "X" "152818599" "152818599" "subst" "0" "01943" "ATP2B3_000097" "g.152818599C>T" "" "" "" "ATP2B3(NM_021949.3):c.1930C>T (p.R644C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153553141C>T" "" "VUS" "" "0000263266" "0" "30" "X" "152806822" "152806822" "subst" "0.000419999" "01943" "ATP2B3_000082" "g.152806822G>A" "" "" "" "ATP2B3(NM_021949.3):c.214G>A (p.A72T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153541364G>A" "" "likely benign" "" "0000263267" "0" "50" "X" "152821670" "152821670" "subst" "1.71829E-5" "01943" "ATP2B3_000099" "g.152821670G>A" "" "" "" "ATP2B3(NM_021949.3):c.2222G>A (p.R741H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153556212G>A" "" "VUS" "" "0000263268" "0" "10" "X" "152821887" "152821887" "subst" "0.986646" "01943" "ATP2B3_000010" "g.152821887C>T" "" "" "" "ATP2B3(NM_021949.3):c.2326+11C>T, ATP2B3(NM_021949.4):c.2326+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153556429C>T" "" "benign" "" "0000263269" "0" "10" "X" "152821896" "152821896" "subst" "0.0954512" "01943" "ATP2B3_000102" "g.152821896C>T" "" "" "" "ATP2B3(NM_021949.3):c.2326+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153556438C>T" "" "benign" "" "0000263270" "0" "30" "X" "152823563" "152823563" "subst" "0.000210895" "01943" "ATP2B3_000103" "g.152823563C>T" "" "" "" "ATP2B3(NM_001001344.2):c.2434-7C>T, ATP2B3(NM_021949.3):c.2434-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153558105C>T" "" "likely benign" "" "0000263271" "0" "30" "X" "152823641" "152823641" "subst" "2.24198E-5" "01943" "ATP2B3_000104" "g.152823641C>T" "" "" "" "ATP2B3(NM_021949.3):c.2505C>T (p.I835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153558183C>T" "" "likely benign" "" "0000263272" "0" "50" "X" "152823655" "152823655" "subst" "5.59901E-6" "01943" "ATP2B3_000105" "g.152823655T>C" "" "" "" "ATP2B3(NM_021949.3):c.2519T>C (p.M840T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153558197T>C" "" "VUS" "" "0000263273" "0" "10" "X" "152823728" "152823728" "subst" "0.542364" "01943" "ATP2B3_000011" "g.152823728G>C" "" "" "" "ATP2B3(NM_021949.3):c.2592G>C (p.V864=), ATP2B3(NM_021949.4):c.2592G>C (p.V864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153558270G>C" "" "benign" "" "0000263274" "0" "10" "X" "152825414" "152825414" "subst" "0.938791" "01943" "ATP2B3_000012" "g.152825414G>T" "" "" "" "ATP2B3(NM_021949.3):c.2839+14G>T, ATP2B3(NM_021949.4):c.2839+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153559956G>T" "" "benign" "" "0000263275" "0" "30" "X" "152826267" "152826267" "subst" "0.000162227" "01943" "ATP2B3_000106" "g.152826267C>T" "" "" "" "ATP2B3(NM_021949.3):c.2973C>T (p.H991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153560809C>T" "" "likely benign" "" "0000263276" "0" "10" "X" "152827588" "152827588" "subst" "0.0120235" "01943" "ATP2B3_000107" "g.152827588C>T" "" "" "" "ATP2B3(NM_021949.3):c.3052-5C>T, ATP2B3(NM_021949.4):c.3052-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153562130C>T" "" "benign" "" "0000263277" "0" "30" "X" "152827670" "152827670" "subst" "5.61255E-6" "01943" "ATP2B3_000108" "g.152827670T>C" "" "" "" "ATP2B3(NM_021949.3):c.3129T>C (p.F1043=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153562212T>C" "" "likely benign" "" "0000263278" "0" "50" "X" "152827696" "152827696" "subst" "0" "01943" "ATP2B3_000109" "g.152827696G>A" "" "" "" "ATP2B3(NM_021949.3):c.3155G>A (p.G1052E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153562238G>A" "" "VUS" "" "0000263279" "0" "10" "X" "152830495" "152830495" "subst" "0.0146321" "01943" "ATP2B3_000110" "g.152830495T>C" "" "" "" "ATP2B3(NM_021949.3):c.3276T>C (p.H1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153565037T>C" "" "benign" "" "0000263280" "0" "50" "X" "152830557" "152830557" "subst" "0" "01943" "ATP2B3_000112" "g.152830557C>T" "" "" "" "ATP2B3(NM_021949.3):c.3338C>T (p.T1113M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153565099C>T" "" "VUS" "" "0000263281" "0" "30" "X" "152835113" "152835113" "subst" "0.000441914" "01943" "ATP2B3_000114" "g.152835113G>A" "" "" "" "ATP2B3(NM_021949.3):c.3395G>A (p.R1132H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153569655G>A" "" "likely benign" "" "0000263282" "0" "30" "X" "152845419" "152845419" "subst" "0.000193623" "01943" "ATP2B3_000117" "g.152845419T>C" "" "" "" "ATP2B3(NM_021949.3):c.3497-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153579961T>C" "" "likely benign" "" "0000263283" "0" "50" "X" "152845738" "152845738" "subst" "0" "01943" "ATP2B3_000120" "g.152845738C>A" "" "" "" "ATP2B3(NM_001001344.2):c.3645C>A (p.S1215R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153580280C>A" "" "VUS" "" "0000263284" "0" "10" "X" "152807034" "152807034" "subst" "0.0102651" "01943" "ATP2B3_000083" "g.152807034G>A" "" "" "" "ATP2B3(NM_021949.3):c.406+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153541576G>A" "" "benign" "" "0000263285" "0" "10" "X" "152807121" "152807121" "subst" "0.00401636" "01943" "ATP2B3_000084" "g.152807121G>A" "" "" "" "ATP2B3(NM_001001344.2):c.407-6G>A, ATP2B3(NM_021949.3):c.407-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153541663G>A" "" "benign" "" "0000263286" "0" "30" "X" "152807150" "152807150" "subst" "1.12137E-5" "01943" "ATP2B3_000085" "g.152807150G>A" "" "" "" "ATP2B3(NM_021949.3):c.430G>A (p.A144T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153541692G>A" "" "likely benign" "" "0000263287" "0" "10" "X" "152807923" "152807923" "subst" "0.997705" "01943" "ATP2B3_000003" "g.152807923G>C" "" "" "" "ATP2B3(NM_021949.3):c.790+17G>C, ATP2B3(NM_021949.4):c.790+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153542465G>C" "" "benign" "" "0000263288" "0" "30" "X" "152808596" "152808596" "subst" "0.000158398" "01943" "ATP2B3_000088" "g.152808596G>A" "" "" "" "ATP2B3(NM_021949.3):c.886G>A (p.G296R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153543138G>A" "" "likely benign" "" "0000336007" "0" "30" "X" "152807810" "152807810" "subst" "0.00209298" "01804" "ATP2B3_000086" "g.152807810A>C" "" "" "" "ATP2B3(NM_001001344.2):c.694A>C (p.(Ile232Leu)), ATP2B3(NM_001001344.3):c.694A>C (p.I232L), ATP2B3(NM_021949.3):c.694A>C (p.I232L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153542352A>C" "" "likely benign" "" "0000336010" "0" "30" "X" "152815684" "152815684" "subst" "0.000279903" "01804" "ATP2B3_000095" "g.152815684G>A" "" "" "" "ATP2B3(NM_001001344.2):c.1763G>A (p.(Arg588His)), ATP2B3(NM_021949.3):c.1763G>A (p.R588H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153550226G>A" "" "likely benign" "" "0000336014" "0" "50" "X" "152830535" "152830535" "subst" "0" "01804" "ATP2B3_000111" "g.152830535C>T" "" "" "" "ATP2B3(NM_001001344.2):c.3316C>T (p.(Arg1106Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153565077C>T" "" "VUS" "" "0000336015" "0" "30" "X" "152835175" "152835175" "subst" "0.000805707" "01804" "ATP2B3_000115" "g.152835175G>A" "" "" "" "ATP2B3(NM_021949.3):c.3457G>A (p.(Ala1153Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153569717G>A" "" "likely benign" "" "0000336017" "0" "50" "X" "152845625" "152845625" "subst" "0" "01804" "ATP2B3_000119" "g.152845625T>C" "" "" "" "ATP2B3(NM_001001344.2):c.3532T>C (p.(Ser1178Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153580167T>C" "" "VUS" "" "0000348613" "0" "50" "X" "152825299" "152825299" "subst" "5.6023E-6" "02327" "ATP2B3_000121" "g.152825299C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153559841C>T" "" "VUS" "" "0000400939" "1" "50" "X" "152813348" "152813348" "subst" "0" "00124" "ATP2B3_000124" "g.152813348G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "E338E" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.153547890G>A" "" "VUS" "" "0000400940" "1" "50" "X" "152815089" "152815089" "subst" "0.997487" "00124" "ATP2B3_000005" "g.152815089A>G" "116/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G491G" "recurrent, found 116 times" "Germline" "" "" "0" "" "" "g.153549631A>G" "" "VUS" "" "0000400941" "1" "50" "X" "152815607" "152815607" "subst" "0.00209805" "00124" "ATP2B3_000125" "g.152815607C>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "R562R" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.153550149C>G" "" "VUS" "" "0000400942" "1" "50" "X" "152823728" "152823728" "subst" "0.542364" "00124" "ATP2B3_000011" "g.152823728G>C" "111/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V864V" "recurrent, found 111 times" "Germline" "" "" "0" "" "" "g.153558270G>C" "" "VUS" "" "0000400943" "1" "50" "X" "152807308" "152807308" "subst" "0.000358301" "00124" "ATP2B3_000123" "g.152807308G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T196T" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.153541850G>A" "" "VUS" "" "0000400982" "1" "50" "X" "152815608" "152815608" "subst" "0.000106296" "00124" "ATP2B3_000126" "g.152815608G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "E563K" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.153550150G>A" "" "VUS" "" "0000406032" "20" "50" "X" "152818590" "152818590" "subst" "0.000235119" "01836" "ATP2B3_000127" "g.152818590G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.153553132G>A" "" "VUS" "" "0000408064" "21" "90" "X" "152710806" "153609906" "dup" "0" "00006" "MECP2_002820" "g.152710806_153609906dup" "" "{PMID:Hu 2016:25644381}" "" "MECP2" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000500547" "20" "50" "X" "152823341" "152823342" "ins" "0" "00037" "ATP2B3_000081" "g.152823341_152823342insGCC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.153557883_153557884insGCC" "" "VUS" "" "0000574260" "0" "30" "X" "152807308" "152807308" "subst" "0.000358301" "01943" "ATP2B3_000123" "g.152807308G>A" "" "" "" "ATP2B3(NM_021949.3):c.588G>A (p.T196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153541850G>A" "" "likely benign" "" "0000574261" "0" "30" "X" "152807836" "152807836" "subst" "0.00030276" "01943" "ATP2B3_000129" "g.152807836C>T" "" "" "" "ATP2B3(NM_021949.3):c.720C>T (p.D240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153542378C>T" "" "likely benign" "" "0000574262" "0" "50" "X" "152813424" "152813424" "subst" "0" "02327" "ATP2B3_000130" "g.152813424C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153547966C>A" "" "VUS" "" "0000574263" "0" "30" "X" "152815200" "152815200" "subst" "5.73589E-6" "01804" "ATP2B3_000131" "g.152815200G>A" "" "" "" "ATP2B3(NM_001001344.2):c.1581+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153549742G>A" "" "likely benign" "" "0000574264" "0" "30" "X" "152818521" "152818521" "subst" "7.8672E-5" "01804" "ATP2B3_000096" "g.152818521G>A" "" "" "" "ATP2B3(NM_001001344.2):c.1852G>A (p.(Glu618Lys)), ATP2B3(NM_021949.3):c.1852G>A (p.E618K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153553063G>A" "" "likely benign" "" "0000574265" "0" "50" "X" "152818528" "152818528" "subst" "0" "01943" "ATP2B3_000132" "g.152818528G>A" "" "" "" "ATP2B3(NM_021949.3):c.1859G>A (p.R620Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153553070G>A" "" "VUS" "" "0000574266" "0" "30" "X" "152818590" "152818590" "subst" "0.000235119" "01943" "ATP2B3_000127" "g.152818590G>A" "" "" "" "ATP2B3(NM_021949.3):c.1921G>A (p.D641N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153553132G>A" "" "likely benign" "" "0000574267" "0" "30" "X" "152818636" "152818636" "subst" "0.000167945" "01943" "ATP2B3_000133" "g.152818636G>A" "" "" "" "ATP2B3(NM_021949.3):c.1967G>A (p.G656D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153553178G>A" "" "likely benign" "" "0000574268" "0" "30" "X" "152821523" "152821523" "subst" "2.80159E-5" "01943" "ATP2B3_000134" "g.152821523G>A" "" "" "" "ATP2B3(NM_021949.3):c.2075G>A (p.R692Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153556065G>A" "" "likely benign" "" "0000574269" "0" "50" "X" "152825328" "152825328" "subst" "2.23893E-5" "01943" "ATP2B3_000135" "g.152825328C>T" "" "" "" "ATP2B3(NM_021949.3):c.2767C>T (p.R923C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153559870C>T" "" "VUS" "" "0000574270" "0" "50" "X" "152827614" "152827614" "subst" "0" "02327" "ATP2B3_000136" "g.152827614G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153562156G>A" "" "VUS" "" "0000574271" "0" "30" "X" "152830381" "152830381" "subst" "0.000685691" "01943" "ATP2B3_000137" "g.152830381C>A" "" "" "" "ATP2B3(NM_021949.3):c.3162C>A (p.V1054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153564923C>A" "" "likely benign" "" "0000574272" "0" "30" "X" "152835144" "152835144" "subst" "3.91523E-5" "01943" "ATP2B3_000138" "g.152835144T>G" "" "" "" "ATP2B3(NM_021949.3):c.3426T>G (p.H1142Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153569686T>G" "" "likely benign" "" "0000574273" "0" "30" "X" "152835222" "152835222" "subst" "0.00115608" "01804" "ATP2B3_000139" "g.152835222T>C" "" "" "" "ATP2B3(NM_021949.3):c.3496+8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153569764T>C" "" "likely benign" "" "0000574275" "0" "30" "X" "152845631" "152845631" "subst" "0" "01804" "ATP2B3_000140" "g.152845631A>C" "" "" "" "ATP2B3(NM_001001344.2):c.3538A>C (p.(Asn1180His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153580173A>C" "" "likely benign" "" "0000574277" "0" "30" "X" "152845632" "152845632" "subst" "0" "01804" "ATP2B3_000141" "g.152845632A>C" "" "" "" "ATP2B3(NM_001001344.2):c.3539A>C (p.(Asn1180Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153580174A>C" "" "likely benign" "" "0000574278" "0" "30" "X" "152845719" "152845719" "subst" "2.26465E-5" "02325" "ATP2B3_000142" "g.152845719C>A" "" "" "" "ATP2B3(NM_001001344.3):c.3626C>A (p.P1209H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153580261C>A" "" "likely benign" "" "0000619153" "0" "30" "X" "152806992" "152806992" "subst" "7.29431E-5" "01943" "ATP2B3_000144" "g.152806992G>A" "" "" "" "ATP2B3(NM_021949.3):c.384G>A (p.A128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153541534G>A" "" "likely benign" "" "0000619154" "0" "30" "X" "152807350" "152807350" "subst" "0.000481763" "01943" "ATP2B3_000145" "g.152807350G>A" "" "" "" "ATP2B3(NM_021949.3):c.630G>A (p.A210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153541892G>A" "" "likely benign" "" "0000619155" "0" "50" "X" "152807897" "152807897" "subst" "3.38757E-5" "01943" "ATP2B3_000087" "g.152807897C>G" "" "" "" "ATP2B3(NM_021949.3):c.781C>G (p.L261V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153542439C>G" "" "VUS" "" "0000619156" "0" "30" "X" "152830399" "152830399" "subst" "3.48464E-5" "01943" "ATP2B3_000147" "g.152830399C>T" "" "" "" "ATP2B3(NM_021949.3):c.3180C>T (p.T1060=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153564941C>T" "" "likely benign" "" "0000619157" "0" "30" "X" "152845611" "152845611" "subst" "0.00283119" "01804" "ATP2B3_000118" "g.152845611C>T" "" "" "" "ATP2B3(NM_001001344.2):c.3518C>T (p.A1173V, p.(Ala1173Val)), ATP2B3(NM_001001344.3):c.3518C>T (p.A1173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153580153C>T" "" "likely benign" "" "0000624478" "0" "30" "X" "152806932" "152806932" "subst" "5.03615E-5" "01943" "ATP2B3_000143" "g.152806932C>T" "" "" "" "ATP2B3(NM_021949.3):c.324C>T (p.D108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153541474C>T" "" "likely benign" "" "0000624479" "0" "50" "X" "152826254" "152826254" "subst" "5.59353E-6" "01943" "ATP2B3_000146" "g.152826254C>T" "" "" "" "ATP2B3(NM_001001344.3):c.2960C>T (p.A987V), ATP2B3(NM_021949.3):c.2960C>T (p.A987V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153560796C>T" "" "VUS" "" "0000659144" "0" "30" "X" "152806995" "152806995" "subst" "0.00012909" "01943" "ATP2B3_000148" "g.152806995G>A" "" "" "" "ATP2B3(NM_021949.3):c.387G>A (p.P129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153541537G>A" "" "likely benign" "" "0000659145" "0" "30" "X" "152835147" "152835147" "subst" "0.00019576" "01943" "ATP2B3_000149" "g.152835147C>T" "" "" "" "ATP2B3(NM_021949.3):c.3429C>T (p.D1143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153569689C>T" "" "likely benign" "" "0000667585" "21" "70" "X" "152830557" "152830557" "subst" "0" "00006" "ATP2B3_000112" "g.152830557C>T" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.153565099C>T" "" "likely pathogenic (recessive)" "ACMG" "0000682200" "0" "50" "X" "152801788" "152801788" "subst" "0" "02325" "ATP2B3_000150" "g.152801788G>C" "" "" "" "ATP2B3(NM_021949.4):c.83G>C (p.G28A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682201" "0" "30" "X" "152835069" "152835069" "subst" "0" "01943" "ATP2B3_000151" "g.152835069A>G" "" "" "" "ATP2B3(NM_021949.3):c.3351A>G (p.V1117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682202" "0" "30" "X" "152845611" "152845611" "subst" "0.00283119" "01943" "ATP2B3_000118" "g.152845611C>T" "" "" "" "ATP2B3(NM_001001344.2):c.3518C>T (p.A1173V, p.(Ala1173Val)), ATP2B3(NM_001001344.3):c.3518C>T (p.A1173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682203" "0" "50" "X" "152845737" "152845737" "subst" "0" "01943" "ATP2B3_000152" "g.152845737G>A" "" "" "" "ATP2B3(NM_001001344.2):c.3644G>A (p.S1215N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000694129" "0" "50" "X" "152835124" "152835124" "subst" "0" "03763" "ATP2B3_000153" "g.152835124T>C" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "VUS" "" "0000728552" "0" "30" "X" "152821659" "152821659" "subst" "0.000159681" "01943" "ATP2B3_000154" "g.152821659C>T" "" "" "" "ATP2B3(NM_021949.3):c.2211C>T (p.N737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810039" "0" "30" "X" "152807810" "152807810" "subst" "0.00209298" "02325" "ATP2B3_000086" "g.152807810A>C" "" "" "" "ATP2B3(NM_001001344.2):c.694A>C (p.(Ile232Leu)), ATP2B3(NM_001001344.3):c.694A>C (p.I232L), ATP2B3(NM_021949.3):c.694A>C (p.I232L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810040" "0" "30" "X" "152813387" "152813387" "subst" "0" "01943" "ATP2B3_000155" "g.152813387C>G" "" "" "" "ATP2B3(NM_021949.3):c.1053C>G (p.N351K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810041" "0" "50" "X" "152818614" "152818614" "subst" "2.23864E-5" "01943" "ATP2B3_000156" "g.152818614G>A" "" "" "" "ATP2B3(NM_021949.3):c.1945G>A (p.A649T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810042" "0" "50" "X" "152818698" "152818698" "subst" "3.94615E-5" "01943" "ATP2B3_000157" "g.152818698G>A" "" "" "" "ATP2B3(NM_021949.3):c.2029G>A (p.V677M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810043" "0" "50" "X" "152821606" "152821606" "subst" "1.12254E-5" "01943" "ATP2B3_000158" "g.152821606G>A" "" "" "" "ATP2B3(NM_021949.3):c.2158G>A (p.G720S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867154" "0" "50" "X" "152801877" "152801877" "subst" "0" "02327" "ATP2B3_000159" "g.152801877G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867155" "0" "50" "X" "152807377" "152807377" "subst" "1.12435E-5" "01943" "ATP2B3_000160" "g.152807377C>A" "" "" "" "ATP2B3(NM_021949.3):c.657C>A (p.V219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867156" "0" "30" "X" "152818613" "152818613" "subst" "6.71618E-5" "01943" "ATP2B3_000161" "g.152818613C>T" "" "" "" "ATP2B3(NM_021949.3):c.1944C>T (p.I648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867157" "0" "30" "X" "152825373" "152825373" "subst" "9.5591E-5" "01943" "ATP2B3_000162" "g.152825373G>A" "" "" "" "ATP2B3(NM_021949.3):c.2812G>A (p.A938T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867158" "0" "30" "X" "152826219" "152826219" "subst" "6.71205E-5" "01943" "ATP2B3_000163" "g.152826219G>A" "" "" "" "ATP2B3(NM_021949.3):c.2925G>A (p.T975=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895976" "0" "50" "X" "152827678" "152827678" "subst" "0" "02325" "ATP2B3_000164" "g.152827678T>C" "" "" "" "ATP2B3(NM_001001344.3):c.3137T>C (p.V1046A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915623" "0" "50" "X" "152826254" "152826254" "subst" "5.59353E-6" "02325" "ATP2B3_000146" "g.152826254C>T" "" "" "" "ATP2B3(NM_001001344.3):c.2960C>T (p.A987V), ATP2B3(NM_021949.3):c.2960C>T (p.A987V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970844" "0" "50" "X" "152801835" "152801835" "subst" "0" "02325" "ATP2B3_000165" "g.152801835G>A" "" "" "" "ATP2B3(NM_001001344.3):c.130G>A (p.E44K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984528" "0" "30" "X" "152815015" "152815015" "subst" "6.15577E-5" "01804" "ATP2B3_000166" "g.152815015G>A" "" "" "" "ATP2B3(NM_001001344.2):c.1399G>A (p.(Ala467Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984529" "0" "30" "X" "152845645" "152845645" "subst" "0.000697739" "01804" "ATP2B3_000167" "g.152845645C>T" "" "" "" "ATP2B3(NM_001001344.2):c.3552C>T (p.(Asn1184=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984530" "0" "50" "X" "152845740" "152845746" "del" "0" "02325" "ATP2B3_000168" "g.152845740_152845746del" "" "" "" "ATP2B3(NM_001001344.3):c.3647_3653delTGGAGAC (p.V1216Gfs*106)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006511" "0" "50" "X" "152813357" "152813357" "subst" "0" "01804" "ATP2B3_000169" "g.152813357G>C" "" "" "" "ATP2B3(NM_001001344.2):c.1023G>C (p.(Glu341Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006512" "0" "30" "X" "152815567" "152815567" "subst" "0" "01804" "ATP2B3_000170" "g.152815567G>A" "" "" "" "ATP2B3(NM_001001344.2):c.1646G>A (p.(Gly549Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006513" "0" "50" "X" "152825263" "152825263" "subst" "0" "02325" "ATP2B3_000171" "g.152825263C>T" "" "" "" "ATP2B3(NM_001001344.3):c.2702C>T (p.T901M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006514" "0" "30" "X" "152830521" "152830521" "subst" "0" "01804" "ATP2B3_000172" "g.152830521A>G" "" "" "" "ATP2B3(NM_001001344.2):c.3302A>G (p.(Gln1101Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006515" "0" "30" "X" "152845440" "152845440" "subst" "0" "01804" "ATP2B3_000173" "g.152845440G>A" "" "" "" "ATP2B3(NM_001001344.2):c.3347G>A (p.(Arg1116Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006516" "0" "30" "X" "152845512" "152845512" "subst" "0" "01804" "ATP2B3_000174" "g.152845512A>G" "" "" "" "ATP2B3(NM_001001344.2):c.3419A>G (p.(Asn1140Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044176" "0" "30" "X" "152807121" "152807121" "subst" "0.00401636" "01804" "ATP2B3_000084" "g.152807121G>A" "" "" "" "ATP2B3(NM_001001344.2):c.407-6G>A, ATP2B3(NM_021949.3):c.407-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044177" "0" "30" "X" "152813908" "152813908" "subst" "0" "01804" "ATP2B3_000175" "g.152813908C>T" "" "" "" "ATP2B3(NM_001001344.2):c.1124-190C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044178" "0" "30" "X" "152823563" "152823563" "subst" "0.000210895" "01804" "ATP2B3_000103" "g.152823563C>T" "" "" "" "ATP2B3(NM_001001344.2):c.2434-7C>T, ATP2B3(NM_021949.3):c.2434-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046842" "0" "50" "X" "152845747" "152845748" "ins" "0" "02325" "ATP2B3_000176" "g.152845747_152845748insC" "" "" "" "ATP2B3(NM_001001344.3):c.3654_3655insC (p.S1219Lfs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049756" "3" "50" "X" "152845687" "152845687" "subst" "0" "00006" "ATP2B3_000177" "g.152845687G>T" "" "{PMID:Charng 2016:27435318}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.153580229G>T" "" "VUS" "" "0001058473" "0" "70" "X" "152815531" "152815531" "subst" "0" "00006" "ATP2B3_000178" "g.152815531G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.153550073G>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 ATP2B3 ## Count = 176 "{{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}}" "0000002212" "00000301" "50" "664" "121" "664" "123" "c.664+121_664+123del" "r.(=)" "p.(=)" "" "0000002213" "00000301" "50" "665" "-149" "665" "-149" "c.665-149del" "r.(=)" "p.(=)" "" "0000002214" "00000301" "50" "4315" "0" "4315" "0" "c.*793dup" "r.(=)" "p.(=)" "" "0000002215" "00000301" "50" "4314" "0" "4315" "0" "c.*792_*793dup" "r.(=)" "p.(=)" "" "0000003314" "00000301" "50" "664" "120" "664" "122" "c.664+120_664+122del" "r.(=)" "p.(=)" "" "0000003315" "00000301" "50" "665" "-155" "665" "-155" "c.665-155del" "r.(=)" "p.(=)" "" "0000003316" "00000301" "50" "4315" "0" "4315" "0" "c.*793dup" "r.(=)" "p.(=)" "" "0000003317" "00000301" "50" "4605" "0" "4606" "0" "c.*1083_*1084insG" "r.(=)" "p.(=)" "" "0000007986" "00000301" "50" "664" "41" "664" "41" "c.664+41G>A" "r.(=)" "p.(=)" "" "0000007987" "00000301" "50" "665" "-116" "665" "-116" "c.665-116A>G" "r.(=)" "p.(=)" "" "0000007988" "00000301" "50" "790" "17" "790" "17" "c.790+17G>C" "r.(=)" "p.(=)" "" "0000007989" "00000301" "50" "790" "214" "790" "214" "c.790+214G>A" "r.(=)" "p.(=)" "" "0000007990" "00000301" "50" "1473" "0" "1473" "0" "c.1473A>G" "r.(?)" "p.(=)" "" "0000007991" "00000301" "50" "1823" "142" "1823" "142" "c.1823+142C>T" "r.(=)" "p.(=)" "" "0000007992" "00000301" "50" "1823" "359" "1823" "359" "c.1823+359T>C" "r.(=)" "p.(=)" "" "0000007993" "00000301" "50" "1824" "-58" "1824" "-58" "c.1824-58G>A" "r.(=)" "p.(=)" "" "0000007994" "00000301" "50" "2058" "163" "2058" "163" "c.2058+163G>T" "r.(=)" "p.(=)" "" "0000007995" "00000301" "50" "2326" "11" "2326" "11" "c.2326+11C>T" "r.(=)" "p.(=)" "" "0000007996" "00000301" "50" "2592" "0" "2592" "0" "c.2592G>C" "r.(?)" "p.(=)" "" "0000007997" "00000301" "50" "2839" "14" "2839" "14" "c.2839+14G>T" "r.(=)" "p.(=)" "" "0000007998" "00000301" "50" "2839" "33" "2839" "33" "c.2839+33A>G" "r.(=)" "p.(=)" "" "0000007999" "00000301" "50" "2839" "233" "2839" "233" "c.2839+233G>C" "r.(=)" "p.(=)" "" "0000008000" "00000301" "50" "3052" "-148" "3052" "-148" "c.3052-148A>G" "r.(=)" "p.(=)" "" "0000008001" "00000301" "50" "3160" "-57" "3160" "-57" "c.3160-57A>G" "r.(=)" "p.(=)" "" "0000008002" "00000301" "50" "3342" "123" "3342" "123" "c.3342+123C>T" "r.(=)" "p.(=)" "" "0000008003" "00000301" "50" "3343" "-170" "3343" "-170" "c.3343-170G>C" "r.(=)" "p.(=)" "" "0000008004" "00000301" "50" "5352" "0" "5352" "0" "c.*1830T>C" "r.(=)" "p.(=)" "" "0000008005" "00000301" "50" "5362" "0" "5362" "0" "c.*1840G>C" "r.(=)" "p.(=)" "" "0000008006" "00000301" "50" "5549" "0" "5549" "0" "c.*2027T>G" "r.(=)" "p.(=)" "" "0000010142" "00000301" "50" "664" "41" "664" "41" "c.664+41G>A" "r.(=)" "p.(=)" "" "0000010143" "00000301" "50" "664" "121" "664" "123" "c.664+121_664+123del" "r.(=)" "p.(=)" "" "0000010144" "00000301" "50" "665" "-149" "665" "-149" "c.665-149del" "r.(=)" "p.(=)" "" "0000010145" "00000301" "50" "665" "-116" "665" "-116" "c.665-116A>G" "r.(=)" "p.(=)" "" "0000010146" "00000301" "50" "790" "17" "790" "17" "c.790+17G>C" "r.(=)" "p.(=)" "" "0000010147" "00000301" "50" "790" "214" "790" "214" "c.790+214G>A" "r.(=)" "p.(=)" "" "0000010148" "00000301" "50" "1473" "0" "1473" "0" "c.1473A>G" "r.(?)" "p.(=)" "" "0000010149" "00000301" "50" "1823" "142" "1823" "142" "c.1823+142C>T" "r.(=)" "p.(=)" "" "0000010150" "00000301" "50" "1824" "-58" "1824" "-58" "c.1824-58G>A" "r.(=)" "p.(=)" "" "0000010151" "00000301" "50" "2058" "163" "2058" "163" "c.2058+163G>T" "r.(=)" "p.(=)" "" "0000010152" "00000301" "50" "2326" "11" "2326" "11" "c.2326+11C>T" "r.(=)" "p.(=)" "" "0000010153" "00000301" "50" "2592" "0" "2592" "0" "c.2592G>C" "r.(?)" "p.(=)" "" "0000010154" "00000301" "50" "2839" "14" "2839" "14" "c.2839+14G>T" "r.(=)" "p.(=)" "" "0000010155" "00000301" "50" "2839" "33" "2839" "33" "c.2839+33A>G" "r.(=)" "p.(=)" "" "0000010156" "00000301" "50" "2839" "233" "2839" "233" "c.2839+233G>C" "r.(=)" "p.(=)" "" "0000010157" "00000301" "50" "3052" "-148" "3052" "-148" "c.3052-148A>G" "r.(=)" "p.(=)" "" "0000010158" "00000301" "50" "3160" "-57" "3160" "-57" "c.3160-57A>G" "r.(=)" "p.(=)" "" "0000010159" "00000301" "50" "3342" "123" "3342" "123" "c.3342+123C>T" "r.(=)" "p.(=)" "" "0000010160" "00000301" "50" "3343" "-170" "3343" "-170" "c.3343-170G>C" "r.(=)" "p.(=)" "" "0000010161" "00000301" "50" "4315" "0" "4315" "0" "c.*793dup" "r.(=)" "p.(=)" "" "0000010162" "00000301" "50" "4606" "0" "4606" "0" "c.*1084T>G" "r.(=)" "p.(=)" "" "0000010163" "00000301" "50" "4618" "0" "4618" "0" "c.*1096dup" "r.(=)" "p.(=)" "" "0000010164" "00000301" "50" "4617" "0" "4618" "0" "c.*1095_*1096dup" "r.(=)" "p.(=)" "" "0000010165" "00000301" "50" "5352" "0" "5352" "0" "c.*1830T>C" "r.(=)" "p.(=)" "" "0000010166" "00000301" "50" "5362" "0" "5362" "0" "c.*1840G>C" "r.(=)" "p.(=)" "" "0000010167" "00000301" "50" "5549" "0" "5549" "0" "c.*2027T>G" "r.(=)" "p.(=)" "" "0000011299" "00000301" "50" "664" "120" "664" "122" "c.664+120_664+122del" "r.(=)" "p.(=)" "" "0000011300" "00000301" "50" "665" "-155" "665" "-155" "c.665-155del" "r.(=)" "p.(=)" "" "0000011302" "00000301" "50" "4315" "0" "4315" "0" "c.*793dup" "r.(=)" "p.(=)" "" "0000011303" "00000301" "50" "4605" "0" "4606" "0" "c.*1083_*1084insG" "r.(=)" "p.(=)" "" "0000247979" "00000301" "10" "1473" "0" "1473" "0" "c.1473A>G" "r.(?)" "p.(Gly491=)" "" "0000253240" "00000301" "10" "1473" "0" "1473" "0" "c.1473A>G" "r.(?)" "p.(Gly491=)" "" "0000254272" "00000301" "30" "3367" "0" "3367" "0" "c.3367A>C" "r.(?)" "p.(Arg1123=)" "" "0000255135" "00000301" "30" "1233" "0" "1233" "0" "c.1233A>G" "r.(?)" "p.(Val411=)" "" "0000256033" "00000301" "50" "694" "0" "694" "0" "c.694A>C" "r.(?)" "p.(Ile232Leu)" "" "0000259185" "00000301" "10" "2326" "11" "2326" "11" "c.2326+11C>T" "r.(=)" "p.(=)" "" "0000259186" "00000301" "10" "2592" "0" "2592" "0" "c.2592G>C" "r.(?)" "p.(Val864=)" "" "0000259187" "00000301" "10" "2839" "14" "2839" "14" "c.2839+14G>T" "r.(=)" "p.(=)" "" "0000259188" "00000301" "10" "3052" "-5" "3052" "-5" "c.3052-5C>T" "r.spl?" "p.?" "" "0000259189" "00000301" "10" "790" "17" "790" "17" "c.790+17G>C" "r.(=)" "p.(=)" "" "0000259346" "00000301" "30" "3672" "0" "3672" "0" "c.*150C>T" "r.(=)" "p.(=)" "" "0000263259" "00000301" "30" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Leu367=)" "" "0000263260" "00000301" "30" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "p.(Thr382=)" "" "0000263261" "00000301" "30" "1571" "0" "1571" "0" "c.1571C>G" "r.(?)" "p.(Thr524Ser)" "" "0000263262" "00000301" "30" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Val561Met)" "" "0000263263" "00000301" "30" "1763" "0" "1763" "0" "c.1763G>A" "r.(?)" "p.(Arg588His)" "" "0000263264" "00000301" "30" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Glu618Lys)" "" "0000263265" "00000301" "50" "1930" "0" "1930" "0" "c.1930C>T" "r.(?)" "p.(Arg644Cys)" "" "0000263266" "00000301" "30" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "" "0000263267" "00000301" "50" "2222" "0" "2222" "0" "c.2222G>A" "r.(?)" "p.(Arg741His)" "" "0000263268" "00000301" "10" "2326" "11" "2326" "11" "c.2326+11C>T" "r.(=)" "p.(=)" "" "0000263269" "00000301" "10" "2326" "20" "2326" "20" "c.2326+20C>T" "r.(=)" "p.(=)" "" "0000263270" "00000301" "30" "2434" "-7" "2434" "-7" "c.2434-7C>T" "r.(=)" "p.(=)" "" "0000263271" "00000301" "30" "2505" "0" "2505" "0" "c.2505C>T" "r.(?)" "p.(Ile835=)" "" "0000263272" "00000301" "50" "2519" "0" "2519" "0" "c.2519T>C" "r.(?)" "p.(Met840Thr)" "" "0000263273" "00000301" "10" "2592" "0" "2592" "0" "c.2592G>C" "r.(?)" "p.(Val864=)" "" "0000263274" "00000301" "10" "2839" "14" "2839" "14" "c.2839+14G>T" "r.(=)" "p.(=)" "" "0000263275" "00000301" "30" "2973" "0" "2973" "0" "c.2973C>T" "r.(?)" "p.(His991=)" "" "0000263276" "00000301" "10" "3052" "-5" "3052" "-5" "c.3052-5C>T" "r.spl?" "p.?" "" "0000263277" "00000301" "30" "3129" "0" "3129" "0" "c.3129T>C" "r.(?)" "p.(Phe1043=)" "" "0000263278" "00000301" "50" "3155" "0" "3155" "0" "c.3155G>A" "r.(?)" "p.(Gly1052Glu)" "" "0000263279" "00000301" "10" "3276" "0" "3276" "0" "c.3276T>C" "r.(?)" "p.(His1092=)" "" "0000263280" "00000301" "50" "3338" "0" "3338" "0" "c.3338C>T" "r.(?)" "p.(Thr1113Met)" "" "0000263281" "00000301" "30" "3395" "0" "3395" "0" "c.3395G>A" "r.(?)" "p.(Arg1132His)" "" "0000263282" "00000301" "30" "3497" "-17" "3497" "-17" "c.3497-17T>C" "r.(=)" "p.(=)" "" "0000263283" "00000301" "50" "3799" "0" "3799" "0" "c.*277C>A" "r.(=)" "p.(=)" "" "0000263284" "00000301" "10" "406" "20" "406" "20" "c.406+20G>A" "r.(=)" "p.(=)" "" "0000263285" "00000301" "10" "407" "-6" "407" "-6" "c.407-6G>A" "r.(=)" "p.(=)" "" "0000263286" "00000301" "30" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Ala144Thr)" "" "0000263287" "00000301" "10" "790" "17" "790" "17" "c.790+17G>C" "r.(=)" "p.(=)" "" "0000263288" "00000301" "30" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Gly296Arg)" "" "0000336007" "00000301" "30" "694" "0" "694" "0" "c.694A>C" "r.(?)" "p.(Ile232Leu)" "" "0000336010" "00000301" "30" "1763" "0" "1763" "0" "c.1763G>A" "r.(?)" "p.(Arg588His)" "" "0000336014" "00000301" "50" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Arg1106Trp)" "" "0000336015" "00000301" "30" "3457" "0" "3457" "0" "c.3457G>A" "r.(?)" "p.(Ala1153Thr)" "" "0000336017" "00000301" "50" "3686" "0" "3686" "0" "c.*164T>C" "r.(=)" "p.(=)" "" "0000348613" "00000301" "50" "2738" "0" "2738" "0" "c.2738C>T" "r.(?)" "p.(Pro913Leu)" "" "0000400939" "00000301" "50" "1014" "0" "1014" "0" "c.1014G>A" "r.(?)" "p.(=)" "0" "0000400940" "00000301" "50" "1473" "0" "1473" "0" "c.1473A>G" "r.(?)" "p.(=)" "0" "0000400941" "00000301" "50" "1686" "0" "1686" "0" "c.1686C>G" "r.(?)" "p.(=)" "0" "0000400942" "00000301" "50" "2592" "0" "2592" "0" "c.2592G>C" "r.(?)" "p.(=)" "0" "0000400943" "00000301" "50" "588" "0" "588" "0" "c.588G>A" "r.(?)" "p.(=)" "0" "0000400982" "00000301" "50" "1687" "0" "1687" "0" "c.1687G>A" "r.(?)" "p.(Glu563Lys)" "0" "0000406032" "00000301" "50" "1921" "0" "1921" "0" "c.1921G>A" "r.(?)" "p.(Asp641Asn)" "" "0000408064" "00000301" "00" "-90900" "0" "767967" "0" "c.-90900_*764445dup" "r.0?" "p.0?" "" "0000500547" "00000301" "50" "2434" "-229" "2434" "-228" "c.2434-229_2434-228insGCC" "r.(=)" "p.(=)" "" "0000574260" "00000301" "30" "588" "0" "588" "0" "c.588G>A" "r.(?)" "p.(Thr196=)" "" "0000574261" "00000301" "30" "720" "0" "720" "0" "c.720C>T" "r.(?)" "p.(Asp240=)" "" "0000574262" "00000301" "50" "1090" "0" "1090" "0" "c.1090C>A" "r.(?)" "p.(Leu364Ile)" "" "0000574263" "00000301" "30" "1581" "3" "1581" "3" "c.1581+3G>A" "r.spl?" "p.?" "" "0000574264" "00000301" "30" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Glu618Lys)" "" "0000574265" "00000301" "50" "1859" "0" "1859" "0" "c.1859G>A" "r.(?)" "p.(Arg620Gln)" "" "0000574266" "00000301" "30" "1921" "0" "1921" "0" "c.1921G>A" "r.(?)" "p.(Asp641Asn)" "" "0000574267" "00000301" "30" "1967" "0" "1967" "0" "c.1967G>A" "r.(?)" "p.(Gly656Asp)" "" "0000574268" "00000301" "30" "2075" "0" "2075" "0" "c.2075G>A" "r.(?)" "p.(Arg692Gln)" "" "0000574269" "00000301" "50" "2767" "0" "2767" "0" "c.2767C>T" "r.(?)" "p.(Arg923Cys)" "" "0000574270" "00000301" "50" "3073" "0" "3073" "0" "c.3073G>A" "r.(?)" "p.(Gly1025Arg)" "" "0000574271" "00000301" "30" "3162" "0" "3162" "0" "c.3162C>A" "r.(?)" "p.(Val1054=)" "" "0000574272" "00000301" "30" "3426" "0" "3426" "0" "c.3426T>G" "r.(?)" "p.(His1142Gln)" "" "0000574273" "00000301" "30" "3496" "8" "3496" "8" "c.3496+8T>C" "r.(=)" "p.(=)" "" "0000574275" "00000301" "30" "3692" "0" "3692" "0" "c.*170A>C" "r.(=)" "p.(=)" "" "0000574277" "00000301" "30" "3693" "0" "3693" "0" "c.*171A>C" "r.(=)" "p.(=)" "" "0000574278" "00000301" "30" "3780" "0" "3780" "0" "c.*258C>A" "r.(=)" "p.(=)" "" "0000619153" "00000301" "30" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Ala128=)" "" "0000619154" "00000301" "30" "630" "0" "630" "0" "c.630G>A" "r.(?)" "p.(Ala210=)" "" "0000619155" "00000301" "50" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Leu261Val)" "" "0000619156" "00000301" "30" "3180" "0" "3180" "0" "c.3180C>T" "r.(?)" "p.(Thr1060=)" "" "0000619157" "00000301" "30" "3672" "0" "3672" "0" "c.*150C>T" "r.(=)" "p.(=)" "" "0000624478" "00000301" "30" "324" "0" "324" "0" "c.324C>T" "r.(?)" "p.(Asp108=)" "" "0000624479" "00000301" "50" "2960" "0" "2960" "0" "c.2960C>T" "r.(?)" "p.(Ala987Val)" "" "0000659144" "00000301" "30" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Pro129=)" "" "0000659145" "00000301" "30" "3429" "0" "3429" "0" "c.3429C>T" "r.(?)" "p.(Asp1143=)" "" "0000667585" "00000301" "70" "3338" "0" "3338" "0" "c.3338C>T" "r.(?)" "p.(Thr1113Met)" "" "0000682200" "00000301" "50" "83" "0" "83" "0" "c.83G>C" "r.(?)" "p.(Gly28Ala)" "" "0000682201" "00000301" "30" "3351" "0" "3351" "0" "c.3351A>G" "r.(?)" "p.(Val1117=)" "" "0000682202" "00000301" "30" "3672" "0" "3672" "0" "c.*150C>T" "r.(=)" "p.(=)" "" "0000682203" "00000301" "50" "3798" "0" "3798" "0" "c.*276G>A" "r.(=)" "p.(=)" "" "0000694129" "00000301" "50" "3406" "0" "3406" "0" "c.3406T>C" "r.(?)" "p.(Ser1136Pro)" "" "0000728552" "00000301" "30" "2211" "0" "2211" "0" "c.2211C>T" "r.(?)" "p.(Asn737=)" "" "0000810039" "00000301" "30" "694" "0" "694" "0" "c.694A>C" "r.(?)" "p.(Ile232Leu)" "" "0000810040" "00000301" "30" "1053" "0" "1053" "0" "c.1053C>G" "r.(?)" "p.(Asn351Lys)" "" "0000810041" "00000301" "50" "1945" "0" "1945" "0" "c.1945G>A" "r.(?)" "p.(Ala649Thr)" "" "0000810042" "00000301" "50" "2029" "0" "2029" "0" "c.2029G>A" "r.(?)" "p.(Val677Met)" "" "0000810043" "00000301" "50" "2158" "0" "2158" "0" "c.2158G>A" "r.(?)" "p.(Gly720Ser)" "" "0000867154" "00000301" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Gly58Arg)" "" "0000867155" "00000301" "50" "657" "0" "657" "0" "c.657C>A" "r.(?)" "p.(Val219=)" "" "0000867156" "00000301" "30" "1944" "0" "1944" "0" "c.1944C>T" "r.(?)" "p.(Ile648=)" "" "0000867157" "00000301" "30" "2812" "0" "2812" "0" "c.2812G>A" "r.(?)" "p.(Ala938Thr)" "" "0000867158" "00000301" "30" "2925" "0" "2925" "0" "c.2925G>A" "r.(?)" "p.(Thr975=)" "" "0000895976" "00000301" "50" "3137" "0" "3137" "0" "c.3137T>C" "r.(?)" "p.(Val1046Ala)" "" "0000915623" "00000301" "50" "2960" "0" "2960" "0" "c.2960C>T" "r.(?)" "p.(Ala987Val)" "" "0000970844" "00000301" "50" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Glu44Lys)" "" "0000984528" "00000301" "30" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Ala467Thr)" "" "0000984529" "00000301" "30" "3706" "0" "3706" "0" "c.*184C>T" "r.(=)" "p.(=)" "" "0000984530" "00000301" "50" "3801" "0" "3807" "0" "c.*279_*285del" "r.(=)" "p.(=)" "" "0001006511" "00000301" "50" "1023" "0" "1023" "0" "c.1023G>C" "r.(?)" "p.(Glu341Asp)" "" "0001006512" "00000301" "30" "1646" "0" "1646" "0" "c.1646G>A" "r.(?)" "p.(Gly549Asp)" "" "0001006513" "00000301" "50" "2702" "0" "2702" "0" "c.2702C>T" "r.(?)" "p.(Thr901Met)" "" "0001006514" "00000301" "30" "3302" "0" "3302" "0" "c.3302A>G" "r.(?)" "p.(Gln1101Arg)" "" "0001006515" "00000301" "30" "3501" "0" "3501" "0" "c.3501G>A" "r.(?)" "p.(=)" "" "0001006516" "00000301" "30" "3573" "0" "3573" "0" "c.*51A>G" "r.(=)" "p.(=)" "" "0001044176" "00000301" "30" "407" "-6" "407" "-6" "c.407-6G>A" "r.(=)" "p.(=)" "" "0001044177" "00000301" "30" "1124" "-190" "1124" "-190" "c.1124-190C>T" "r.(=)" "p.(=)" "" "0001044178" "00000301" "30" "2434" "-7" "2434" "-7" "c.2434-7C>T" "r.(=)" "p.(=)" "" "0001046842" "00000301" "50" "3808" "0" "3809" "0" "c.*286_*287insC" "r.(=)" "p.(=)" "" "0001049756" "00000301" "50" "3594" "0" "3594" "0" "c.3594G>T" "r.(?)" "p.(Lys1198Asn)" "" "0001058473" "00000301" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 72 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002212" "0000000209" "0000002213" "0000000209" "0000002214" "0000000209" "0000002215" "0000000209" "0000003314" "0000000209" "0000003315" "0000000209" "0000003316" "0000000209" "0000003317" "0000000209" "0000007986" "0000000209" "0000007987" "0000000209" "0000007988" "0000000209" "0000007989" "0000000209" "0000007990" "0000000209" "0000007991" "0000000209" "0000007992" "0000000209" "0000007993" "0000000209" "0000007994" "0000000209" "0000007995" "0000000209" "0000007996" "0000000209" "0000007997" "0000000209" "0000007998" "0000000209" "0000007999" "0000000209" "0000008000" "0000000209" "0000008001" "0000000209" "0000008002" "0000000209" "0000008003" "0000000209" "0000008004" "0000000209" "0000008005" "0000000209" "0000008006" "0000000210" "0000010142" "0000000210" "0000010143" "0000000210" "0000010144" "0000000210" "0000010145" "0000000210" "0000010146" "0000000210" "0000010147" "0000000210" "0000010148" "0000000210" "0000010149" "0000000210" "0000010150" "0000000210" "0000010151" "0000000210" "0000010152" "0000000210" "0000010153" "0000000210" "0000010154" "0000000210" "0000010155" "0000000210" "0000010156" "0000000210" "0000010157" "0000000210" "0000010158" "0000000210" "0000010159" "0000000210" "0000010160" "0000000210" "0000010161" "0000000210" "0000010162" "0000000210" "0000010163" "0000000210" "0000010164" "0000000210" "0000010165" "0000000210" "0000010166" "0000000210" "0000010167" "0000000210" "0000011299" "0000000210" "0000011300" "0000000210" "0000011302" "0000000210" "0000011303" "0000000210" "0000500547" "0000174277" "0000400939" "0000174278" "0000400940" "0000174279" "0000400941" "0000174280" "0000400942" "0000174281" "0000400943" "0000174380" "0000400982" "0000182161" "0000406032" "0000184095" "0000408064" "0000304094" "0000667585" "0000312540" "0000694129" "0000469458" "0001049756" "0000470351" "0001058473"