### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP2A1) # 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}}" "ATP2A1" "ATPase, Ca++ transporting, cardiac muscle, fast twitch 1" "16" "p12.1" "unknown" "NG_023327.1" "UD_132085443979" "" "https://www.LOVD.nl/ATP2A1" "" "1" "811" "487" "108730" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ATP2A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-11-16 16:38:30" "00000" "2025-05-05 21:14:00" ## 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}}" "00003066" "ATP2A1" "transcript variant a" "001" "NM_004320.4" "" "NP_004311.1" "" "" "" "-184" "3352" "2985" "28889809" "28915830" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "02336" "Brody myopathy" "myopathy, Brody" "AR" "601003" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05310" "myotonia" "myotonia" "AD;AR;SMo" "" "" "" "" "00006" "2017-07-24 11:41:43" "00006" "2021-12-10 21:51:32" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ATP2A1" "02336" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00004155" "" "" "" "2" "" "00568" "" "" "" "?" "United States" "" "0" "" "" "" "" "00050458" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050683" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00204197" "" "" "" "1" "" "03068" "" "" "M" "no" "Portugal" "" "0" "" "" "" "" "00291438" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314060" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314061" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314062" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314063" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00361991" "" "" "" "1" "" "04047" "{PMID:Saat 2021:33963534}" "" "M" "yes" "" "" "0" "" "" "" "Pat13" "00387777" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, third cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8600068" "00390025" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "3" "00411967" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "M" "" "Italy" "" "0" "" "" "" "Pat44" "00436399" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "269467" "00442634" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat6" "00442717" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat89" "00442718" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat90" "00460951" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00004155" "00244" "00050458" "00198" "00050683" "00198" "00204197" "02336" "00291438" "00198" "00314060" "05126" "00314061" "05126" "00314062" "05126" "00314063" "05126" "00361991" "02336" "00387777" "00139" "00390025" "04214" "00411967" "05310" "00436399" "02336" "00442634" "05618" "00442717" "05618" "00442718" "05618" "00460951" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00244, 02336, 04214, 05126, 05310, 05618 ## Count = 12 "{{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}}" "0000002972" "00244" "00004155" "00568" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037070" "00198" "00050458" "00006" "Isolated (sporadic)" "" "microcephaly, intrauterine growth retardation, global developmental delay, abnormal size of the palpebral fissures, prominent nose, short 4th metacarpal, clinodactyly of the 5th finger, cutaneous syndactyly of toes, aggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "0000037295" "00198" "00050683" "00006" "Unknown" "" "microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000152865" "02336" "00204197" "03068" "Familial, autosomal recessive" "56y" "impaired/prolongued muscle relaxation upon vigorous contraction" "" "59y" "" "" "" "" "" "" "Brody myopathy" "" "" "0000257384" "02336" "00361991" "04047" "Familial, autosomal recessive" "" "Muscle weakness HP:0001324\r\nHypotonia HP:0001252" "" "" "" "" "" "" "" "" "" "" "" "0000281345" "00139" "00387777" "00006" "Familial, autosomal recessive" "" "non-syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000283565" "04214" "00390025" "00000" "Unknown" "11m" "Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" "0000303994" "05310" "00411967" "00006" "Unknown" "28y" "muscle stiffness" "" "" "" "" "" "" "" "" "" "skeletal muscle channelopathy" "" "0000326578" "02336" "00436399" "01164" "Unknown" "13y" "Myopathy" "" "" "5y" "" "" "" "" "" "" "" "" "0000331981" "05618" "00442634" "00006" "Familial, autosomal recessive" "30y" "Mild muscle weakness and exercise intolerance; muscle biopsy: increase in fiber size variation, internal nuclei and cores; CK = 733 U/l" "1d" "" "" "" "" "" "" "" "" "Brody disease, congenital myopathy" "" "0000332064" "05618" "00442717" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Muscle hypertrophy" "" "0000332065" "05618" "00442718" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Brody syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000004082" "00004155" "1" "00568" "00568" "2013-12-30 19:24:21" "" "" "SEQ-NG-I" "RNA" "" "" "0000050403" "00050458" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050628" "00050683" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000205226" "00204197" "1" "03068" "03068" "2018-11-06 23:56:32" "00006" "2018-11-09 11:28:26" "PCR;SEQ" "DNA" "blood" "" "0000292606" "00291438" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000315233" "00314060" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315234" "00314061" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315235" "00314062" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315236" "00314063" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363219" "00361991" "1" "04047" "04047" "2021-04-13 11:46:19" "" "" "SEQ-NG" "DNA" "" "" "0000389008" "00387777" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000391266" "00390025" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000413239" "00411967" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000437881" "00436399" "1" "01164" "01164" "2023-09-12 10:47:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000444118" "00442634" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444201" "00442717" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444202" "00442718" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000462583" "00460951" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000004082" "ATP2A1" "0000205226" "ATP2A1" "0000315233" "ATP2A1" "0000315234" "ATP2A1" "0000315235" "ATP2A1" "0000315236" "ATP2A1" "0000389008" "ATP2A1" "0000391266" "CLN3" "0000437881" "ATP2A1" "0000462583" "ATP2A1" ## 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 = 69 "{{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}}" "0000022987" "1" "95" "16" "28898819" "28898819" "subst" "0" "00568" "ATP2A1_000001" "g.28898819T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.28887498T>A" "" "pathogenic" "" "0000022988" "0" "95" "16" "28914725" "28914725" "subst" "0" "00568" "ATP2A1_000002" "g.28914725G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.28903404G>A" "" "pathogenic" "" "0000079383" "0" "90" "16" "21530207" "29332245" "del" "0" "00006" "CLN3_000009" "g.21530207_29332245del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.21518886_29320924del" "" "pathogenic" "" "0000079608" "0" "90" "16" "27183151" "31888684" "dup" "0" "00006" "CLN3_000010" "g.27183151_31888684dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.33 cells" "Somatic" "" "" "0" "" "" "g.27171830_31877363dup" "" "pathogenic" "" "0000259183" "0" "10" "16" "28915527" "28915527" "subst" "0.693759" "02325" "ATP2A1_000007" "g.28915527G>A" "" "" "" "ATP2A1(NM_004320.5):c.*64G>A, ATP2A1(NM_004320.6):c.*64G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28904206G>A" "" "benign" "" "0000259184" "0" "10" "16" "28898793" "28898793" "subst" "0.351252" "02325" "ATP2A1_000004" "g.28898793T>C" "" "" "" "ATP2A1(NM_004320.5):c.678T>C (p.T226=), ATP2A1(NM_004320.6):c.678T>C (p.T226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28887472T>C" "" "benign" "" "0000261195" "0" "10" "16" "28915527" "28915527" "subst" "0.693759" "02326" "ATP2A1_000007" "g.28915527G>A" "" "" "" "ATP2A1(NM_004320.5):c.*64G>A, ATP2A1(NM_004320.6):c.*64G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28904206G>A" "" "benign" "" "0000261196" "0" "90" "16" "28890092" "28890092" "subst" "4.47638E-5" "02326" "ATP2A1_000003" "g.28890092G>T" "" "" "" "ATP2A1(NM_004320.5):c.100G>T (p.E34*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28878771G>T" "" "pathogenic" "" "0000261197" "0" "10" "16" "28898793" "28898793" "subst" "0.351252" "02326" "ATP2A1_000004" "g.28898793T>C" "" "" "" "ATP2A1(NM_004320.5):c.678T>C (p.T226=), ATP2A1(NM_004320.6):c.678T>C (p.T226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28887472T>C" "" "benign" "" "0000324688" "0" "30" "16" "28884858" "28884858" "subst" "0.00708314" "01804" "SH2B1_000002" "g.28884858C>T" "" "" "" "SH2B1(NM_001145795.1):c.1988C>T (p.(Ala663Val)), SH2B1(NM_001308293.2):c.1988C>T (p.A663V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28873537C>T" "" "likely benign" "" "0000324689" "0" "50" "16" "28912085" "28912085" "subst" "0.00124861" "01804" "ATP2A1_000006" "g.28912085G>A" "" "" "" "ATP2A1(NM_004320.4):c.1948G>A (p.(Asp650Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28900764G>A" "" "VUS" "" "0000340735" "0" "10" "16" "28914724" "28914724" "subst" "8.93408E-5" "02327" "ATP2A1_000012" "g.28914724C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28903403C>T" "" "benign" "" "0000340997" "0" "10" "16" "28898793" "28898793" "subst" "0.351252" "02327" "ATP2A1_000004" "g.28898793T>C" "" "" "" "ATP2A1(NM_004320.5):c.678T>C (p.T226=), ATP2A1(NM_004320.6):c.678T>C (p.T226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28887472T>C" "" "benign" "" "0000342036" "0" "90" "16" "28895922" "28895922" "subst" "0" "02327" "ATP2A1_000010" "g.28895922C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28884601C>T" "" "pathogenic" "" "0000343166" "0" "50" "16" "28911948" "28911948" "subst" "8.57162E-6" "02327" "ATP2A1_000011" "g.28911948G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28900627G>A" "" "VUS" "" "0000350319" "0" "50" "16" "28895896" "28895896" "subst" "0" "02327" "ATP2A1_000009" "g.28895896T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28884575T>C" "" "VUS" "" "0000351087" "0" "10" "16" "28915527" "28915527" "subst" "0.693759" "02327" "ATP2A1_000007" "g.28915527G>A" "" "" "" "ATP2A1(NM_004320.5):c.*64G>A, ATP2A1(NM_004320.6):c.*64G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28904206G>A" "" "benign" "" "0000417817" "0" "70" "16" "28906170" "28906170" "subst" "1.23058E-5" "03068" "ATP2A1_000013" "g.28906170G>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.28894849G>A" "" "likely pathogenic" "" "0000557779" "0" "30" "16" "28884953" "28884953" "subst" "5.9162E-5" "01943" "ATP2A1_000016" "g.28884953G>A" "" "" "" "SH2B1(NM_001308293.1):c.2083G>A (p.V695M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28873632G>A" "" "likely benign" "" "0000557780" "0" "90" "16" "28890092" "28890092" "subst" "4.47638E-5" "02327" "ATP2A1_000003" "g.28890092G>T" "" "" "" "ATP2A1(NM_004320.5):c.100G>T (p.E34*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28878771G>T" "" "pathogenic" "" "0000557782" "0" "50" "16" "28906179" "28906179" "subst" "0" "02329" "ATP2A1_000018" "g.28906179G>A" "" "" "" "ATP2A1(NM_004320.6):c.1324G>A (p.E442K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28894858G>A" "" "VUS" "" "0000557783" "0" "50" "16" "28909557" "28909557" "subst" "0" "01804" "ATP2A1_000019" "g.28909557G>A" "" "" "" "ATP2A1(NM_004320.4):c.1549G>A (p.(Ala517Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28898236G>A" "" "VUS" "" "0000557784" "0" "30" "16" "28913710" "28913710" "subst" "0.0487921" "01804" "ATP2A1_000020" "g.28913710G>T" "" "" "" "ATP2A1(NM_004320.4):c.2524+3G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28902389G>T" "" "likely benign" "" "0000557785" "0" "30" "16" "28917367" "28917367" "subst" "0.000492272" "01943" "ATP2A1_000021" "g.28917367G>C" "" "" "" "RABEP2(NM_024816.3):c.1396C>G (p.Q466E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28906046G>C" "" "likely benign" "" "0000623437" "0" "70" "16" "28890438" "28890438" "subst" "0" "01943" "ATP2A1_000022" "g.28890438G>T" "" "" "" "ATP2A1(NM_004320.4):c.136+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28879117G>T" "" "likely pathogenic" "" "0000649295" "1" "50" "16" "28913971" "28913971" "del" "0" "03575" "ATP2A1_000023" "g.28913971del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs398124554}" "Germline" "" "rs398124554" "0" "" "" "g.28902650del" "" "VUS" "" "0000657813" "0" "30" "16" "28912072" "28912072" "subst" "0.000248576" "01943" "ATP2A1_000024" "g.28912072C>T" "" "" "" "ATP2A1(NM_004320.4):c.1935C>T (p.N645=), ATP2A1(NM_173201.4):c.1935C>T (p.N645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28900751C>T" "" "likely benign" "" "0000697322" "0" "70" "16" "28893808" "28893808" "dup" "0" "00006" "ATP2A1_000026" "g.28893808dup" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.28882487dup" "" "likely pathogenic" "" "0000697323" "0" "70" "16" "28893875" "28893875" "subst" "0.00013815" "00006" "ATP2A1_000027" "g.28893875G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.28882554G>A" "" "likely pathogenic" "" "0000697324" "0" "70" "16" "28906172" "28906173" "del" "0" "00006" "ATP2A1_000028" "g.28906172_28906173del" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.28894851_28894852del" "" "likely pathogenic" "" "0000697325" "0" "70" "16" "28913647" "28913647" "dup" "0" "00006" "ATP2A1_000029" "g.28913647dup" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.28902326dup" "" "likely pathogenic" "" "0000725724" "0" "30" "16" "28884763" "28884763" "subst" "0.00434455" "02330" "SH2B1_000001" "g.28884763T>C" "" "" "" "SH2B1(NM_015503.3):c.1998-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725725" "0" "30" "16" "28884858" "28884858" "subst" "0.00708314" "02330" "SH2B1_000002" "g.28884858C>T" "" "" "" "SH2B1(NM_001145795.1):c.1988C>T (p.(Ala663Val)), SH2B1(NM_001308293.2):c.1988C>T (p.A663V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725726" "0" "30" "16" "28884874" "28884874" "subst" "2.76776E-5" "02330" "ATP2A1_000030" "g.28884874A>G" "" "" "" "SH2B1(NM_001308293.2):c.2004A>G (p.A668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725727" "0" "50" "16" "28884894" "28884895" "del" "0" "02330" "ATP2A1_000031" "g.28884894_28884895del" "" "" "" "SH2B1(NM_001308293.2):c.2024_2025delAA (p.K675Rfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725728" "0" "50" "16" "28884936" "28884936" "subst" "2.08699E-5" "02330" "ATP2A1_000032" "g.28884936C>T" "" "" "" "SH2B1(NM_001387430.1):c.2066C>T (p.P689L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725729" "0" "90" "16" "28912162" "28912162" "subst" "8.19833E-6" "02327" "ATP2A1_000033" "g.28912162C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725730" "0" "90" "16" "28913694" "28913694" "subst" "0" "01943" "ATP2A1_000034" "g.28913694C>A" "" "" "" "ATP2A1(NM_004320.4):c.2511C>A (p.Y837*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000763687" "3" "50" "16" "28912166" "28912166" "subst" "0" "04047" "ATP2A1_000035" "g.28912166G>A" "" "{PMID:Saat 2021:33963534}" "" "1654G>A (Ala552Thr)" "" "Germline" "" "" "0" "" "" "g.28900845G>A" "" "VUS" "" "0000807330" "0" "50" "16" "28884561" "28884561" "subst" "4.2388E-5" "02330" "ATP2A1_000036" "g.28884561C>T" "" "" "" "SH2B1(NM_001145797.2):c.2021C>T (p.P674L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807331" "0" "50" "16" "28884961" "28884978" "del" "0" "02330" "ATP2A1_000037" "g.28884961_28884978del" "" "" "" "SH2B1(NM_001308293.2):c.2091_2108delGCTGGTCCCCGTGGTTGA (p.V699_L704del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807332" "0" "50" "16" "28895959" "28895959" "subst" "0" "02327" "ATP2A1_000038" "g.28895959A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807333" "0" "50" "16" "28906179" "28906179" "subst" "0" "02327" "ATP2A1_000018" "g.28906179G>A" "" "" "" "ATP2A1(NM_004320.6):c.1324G>A (p.E442K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807334" "0" "50" "16" "28909414" "28909414" "subst" "8.12123E-6" "01804" "ATP2A1_000039" "g.28909414C>T" "" "" "" "ATP2A1(NM_004320.4):c.1513C>T (p.(Arg505Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807335" "0" "90" "16" "28913358" "28913358" "subst" "0" "01943" "ATP2A1_000040" "g.28913358C>T" "" "" "" "ATP2A1(NM_004320.4):c.2275C>T (p.Q759*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000817801" "3" "70" "16" "28913295" "28913295" "subst" "3.24865E-5" "00006" "ATP2A1_000041" "g.28913295G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.28901974G>A" "" "likely pathogenic (recessive)" "ACMG" "0000820998" "0" "70" "16" "28100001" "34600000" "del" "0" "00000" "CRYM_000000" "g.28100001_34600000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array, microdeletion in 16p11.2" "zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2" "Unknown" "?" "" "0" "" "" "g.28500001_35300000del" "" "likely pathogenic" "" "0000854461" "0" "10" "16" "28884880" "28884880" "subst" "2.86178E-5" "02330" "ATP2A1_000042" "g.28884880A>G" "" "" "" "SH2B1(NM_001308293.2):c.2010A>G (p.A670=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854462" "0" "30" "16" "28885126" "28885126" "subst" "0" "02330" "ATP2A1_000043" "g.28885126G>A" "" "" "" "SH2B1(NM_001308293.2):c.2256G>A (p.Q752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870665" "1" "50" "16" "28898588" "28898588" "subst" "0" "00006" "ATP2A1_000045" "g.28898588T>C" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.28887267T>C" "" "VUS" "ACMG" "0000892903" "0" "30" "16" "28885099" "28885099" "subst" "5.1336E-5" "02330" "ATP2A1_000046" "g.28885099G>C" "" "" "" "SH2B1(NM_001308293.2):c.2229G>C (p.G743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892904" "0" "30" "16" "28898954" "28898954" "subst" "0.000959116" "02326" "ATP2A1_000047" "g.28898954A>G" "" "" "" "ATP2A1(NM_173201.4):c.839A>G (p.N280S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892905" "0" "50" "16" "28914762" "28914762" "subst" "4.06372E-6" "01804" "ATP2A1_000025" "g.28914762G>A" "" "" "" "ATP2A1(NM_001286075.1):c.2605+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926257" "0" "30" "16" "28884961" "28884961" "subst" "2.24719E-5" "02330" "ATP2A1_000048" "g.28884961G>A" "" "" "" "SH2B1(NM_001387430.1):c.2091G>A (p.E697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933324" "21" "70" "16" "28890049" "28890052" "del" "0" "01164" "ATP2A1_000049" "g.28890049_28890052del" "" "" "" "" "ACMG: PVS1, PM3_Sup, PM2_Sup" "Germline" "-" "" "" "" "" "g.28878728_28878731del" "VCV000577343.4" "pathogenic (recessive)" "ACMG" "0000933325" "11" "70" "16" "28912049" "28912049" "subst" "4.07342E-6" "01164" "ATP2A1_000050" "g.28912049C>T" "" "" "" "" "ACMG: PVS1, PM3_Sup, PM2_Sup" "Germline" "-" "" "" "" "" "g.28900728C>T" "VCV001938875.2" "pathogenic (recessive)" "ACMG" "0000945975" "3" "90" "16" "28895922" "28895922" "subst" "0" "00006" "ATP2A1_000010" "g.28895922C>T" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.28884601C>T" "" "pathogenic (recessive)" "" "0000946058" "0" "50" "16" "28911948" "28911948" "subst" "8.57162E-6" "00006" "ATP2A1_000011" "g.28911948G>A" "" "{PMID:Westra 2019:31127727}" "" "" "no variant 2nd chromosome; no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.28900627G>A" "" "VUS" "" "0000946059" "0" "50" "16" "28911948" "28911948" "subst" "8.57162E-6" "00006" "ATP2A1_000011" "g.28911948G>A" "" "{PMID:Westra 2019:31127727}" "" "" "no variant 2nd chromosome; no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.28900627G>A" "" "VUS" "" "0000981821" "0" "30" "16" "28884919" "28884919" "subst" "0.000123359" "02330" "ATP2A1_000052" "g.28884919G>A" "" "" "" "SH2B1(NM_001387430.1):c.2049G>A (p.A683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981822" "0" "90" "16" "28913647" "28913647" "dup" "0" "02329" "ATP2A1_000029" "g.28913647dup" "" "" "" "ATP2A1(NM_004320.6):c.2464dupC (p.R822Pfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001002183" "0" "50" "16" "28909609" "28909609" "subst" "2.43665E-5" "01804" "ATP2A1_000053" "g.28909609G>A" "" "" "" "ATP2A1(NM_004320.4):c.1601G>A (p.(Arg534Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015378" "0" "30" "16" "28898611" "28898611" "subst" "0.000747299" "02326" "ATP2A1_000054" "g.28898611C>G" "" "" "" "ATP2A1(NM_173201.4):c.630+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015379" "0" "30" "16" "28905547" "28905547" "subst" "0.00280981" "02326" "ATP2A1_000055" "g.28905547C>T" "" "" "" "ATP2A1(NM_173201.4):c.1167C>T (p.Y389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015380" "0" "30" "16" "28912072" "28912072" "subst" "0.000248576" "02326" "ATP2A1_000024" "g.28912072C>T" "" "" "" "ATP2A1(NM_004320.4):c.1935C>T (p.N645=), ATP2A1(NM_173201.4):c.1935C>T (p.N645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015381" "0" "30" "16" "28913912" "28913912" "subst" "0.000739783" "02326" "ATP2A1_000056" "g.28913912G>A" "" "" "" "ATP2A1(NM_173201.4):c.2536G>A (p.A846T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022110" "0" "70" "16" "28890438" "28890438" "subst" "0" "04796" "ATP2A1_000022" "g.28890438G>T" "" "" "" "" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.28879117G>T" "" "likely pathogenic" "" "0001041024" "0" "50" "16" "28913641" "28913641" "subst" "0.000146509" "01804" "ATP2A1_000057" "g.28913641C>A" "" "" "" "ATP2A1(NM_004320.6):c.2458C>A (p.(Pro820Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041025" "0" "30" "16" "28913897" "28913897" "subst" "0" "02325" "ATP2A1_000058" "g.28913897A>G" "" "" "" "ATP2A1(NM_173201.5):c.2525-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ATP2A1 ## Count = 69 "{{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}}" "0000022987" "00003066" "95" "704" "0" "704" "0" "c.704T>A" "r.(?)" "p.(Ile235Asn)" "8" "0000022988" "00003066" "95" "2944" "0" "2944" "0" "c.2944G>A" "r.(?)" "p.(Glu982Lys)" "21" "0000079383" "00003066" "00" "-7359786" "0" "419767" "0" "c.-7359786_*416782del" "r.0?" "p.0?" "" "0000079608" "00003066" "00" "-1706842" "0" "2976206" "0" "c.-1706842_*2973221dup" "" "" "" "0000259183" "00003066" "10" "3049" "0" "3049" "0" "c.*64G>A" "r.(=)" "p.(=)" "" "0000259184" "00003066" "10" "678" "0" "678" "0" "c.678T>C" "r.(?)" "p.(Thr226=)" "" "0000261195" "00003066" "10" "3049" "0" "3049" "0" "c.*64G>A" "r.(=)" "p.(=)" "" "0000261196" "00003066" "90" "100" "0" "100" "0" "c.100G>T" "r.(?)" "p.(Glu34Ter)" "" "0000261197" "00003066" "10" "678" "0" "678" "0" "c.678T>C" "r.(?)" "p.(Thr226=)" "" "0000324688" "00003066" "30" "-5135" "0" "-5135" "0" "c.-5135C>T" "r.(?)" "p.(=)" "" "0000324689" "00003066" "50" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Asp650Asn)" "" "0000340735" "00003066" "10" "2943" "0" "2943" "0" "c.2943C>T" "r.(?)" "p.(Asp981=)" "" "0000340997" "00003066" "10" "678" "0" "678" "0" "c.678T>C" "r.(?)" "p.(Thr226=)" "" "0000342036" "00003066" "90" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164Ter)" "" "0000343166" "00003066" "50" "1811" "0" "1811" "0" "c.1811G>A" "r.(?)" "p.(Arg604His)" "" "0000350319" "00003066" "50" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Val155Ala)" "" "0000351087" "00003066" "10" "3049" "0" "3049" "0" "c.*64G>A" "r.(=)" "p.(=)" "" "0000417817" "00003066" "70" "1315" "0" "1315" "0" "c.1315G>A" "r.(?)" "p.(Glu439Lys)" "" "0000557779" "00003066" "30" "-5040" "0" "-5040" "0" "c.-5040G>A" "r.(?)" "p.(=)" "" "0000557780" "00003066" "90" "100" "0" "100" "0" "c.100G>T" "r.(?)" "p.(Glu34Ter)" "" "0000557782" "00003066" "50" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Glu442Lys)" "" "0000557783" "00003066" "50" "1549" "0" "1549" "0" "c.1549G>A" "r.(?)" "p.(Ala517Thr)" "" "0000557784" "00003066" "30" "2524" "3" "2524" "3" "c.2524+3G>T" "r.spl?" "p.?" "" "0000557785" "00003066" "30" "4889" "0" "4889" "0" "c.*1904G>C" "r.(=)" "p.(=)" "" "0000623437" "00003066" "70" "136" "1" "136" "1" "c.136+1G>T" "r.spl?" "p.?" "" "0000649295" "00003066" "50" "2595" "0" "2595" "0" "c.2595del" "r.(?)" "p.(Asn866Thrfs*5)" "" "0000657813" "00003066" "30" "1935" "0" "1935" "0" "c.1935C>T" "r.(?)" "p.(Asn645=)" "" "0000697322" "00003066" "70" "361" "0" "361" "0" "c.361dup" "r.(?)" "p.(Glu121Glyfs*3)" "" "0000697323" "00003066" "70" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143Gln)" "" "0000697324" "00003066" "70" "1317" "0" "1318" "0" "c.1317_1318del" "r.(?)" "p.(Glu439Aspfs*80)" "" "0000697325" "00003066" "70" "2464" "0" "2464" "0" "c.2464dup" "r.(?)" "p.(Arg822Profs*39)" "" "0000725724" "00003066" "30" "-5230" "0" "-5230" "0" "c.-5230T>C" "r.(?)" "p.(=)" "" "0000725725" "00003066" "30" "-5135" "0" "-5135" "0" "c.-5135C>T" "r.(?)" "p.(=)" "" "0000725726" "00003066" "30" "-5119" "0" "-5119" "0" "c.-5119A>G" "r.(?)" "p.(=)" "" "0000725727" "00003066" "50" "-5099" "0" "-5098" "0" "c.-5099_-5098del" "r.(?)" "p.(=)" "" "0000725728" "00003066" "50" "-5057" "0" "-5057" "0" "c.-5057C>T" "r.(?)" "p.(=)" "" "0000725729" "00003066" "90" "2025" "0" "2025" "0" "c.2025C>A" "r.(?)" "p.(Cys675*)" "" "0000725730" "00003066" "90" "2511" "0" "2511" "0" "c.2511C>A" "r.(?)" "p.(Tyr837*)" "" "0000763687" "00003066" "50" "2029" "0" "2029" "0" "c.2029G>A" "r.(?)" "p.(Ala677Thr)" "" "0000807330" "00003066" "50" "-5432" "0" "-5432" "0" "c.-5432C>T" "r.(?)" "p.(=)" "" "0000807331" "00003066" "50" "-5032" "0" "-5015" "0" "c.-5032_-5015del" "r.(?)" "p.(=)" "" "0000807332" "00003066" "50" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Asp176Gly)" "" "0000807333" "00003066" "50" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Glu442Lys)" "" "0000807334" "00003066" "50" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(Arg505Trp)" "" "0000807335" "00003066" "90" "2275" "0" "2275" "0" "c.2275C>T" "r.(?)" "p.(Gln759*)" "" "0000817801" "00003066" "70" "2212" "0" "2212" "0" "c.2212G>A" "r.(?)" "p.(Asp738Asn)" "" "0000820998" "00003066" "70" "-789992" "0" "5687522" "0" "c.-789992_*5684537del" "r.0?" "p.0?" "" "0000854461" "00003066" "10" "-5113" "0" "-5113" "0" "c.-5113A>G" "r.(?)" "p.(=)" "" "0000854462" "00003066" "30" "-4867" "0" "-4867" "0" "c.-4867G>A" "r.(?)" "p.(=)" "" "0000870665" "00003066" "50" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Leu208Pro)" "" "0000892903" "00003066" "30" "-4894" "0" "-4894" "0" "c.-4894G>C" "r.(?)" "p.(=)" "" "0000892904" "00003066" "30" "839" "0" "839" "0" "c.839A>G" "r.(?)" "p.(Asn280Ser)" "" "0000892905" "00003066" "50" "2980" "1" "2980" "1" "c.2980+1G>A" "r.spl?" "p.?" "" "0000926257" "00003066" "30" "-5032" "0" "-5032" "0" "c.-5032G>A" "r.(?)" "p.(=)" "" "0000933324" "00003066" "70" "57" "0" "60" "0" "c.57_60del" "r.(?)" "p.(Ser19Argfs*34)" "" "0000933325" "00003066" "70" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Arg638*)" "" "0000945975" "00003066" "90" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164Ter)" "" "0000946058" "00003066" "50" "1811" "0" "1811" "0" "c.1811G>A" "r.(?)" "p.(Arg604His)" "" "0000946059" "00003066" "50" "1811" "0" "1811" "0" "c.1811G>A" "r.(?)" "p.(Arg604His)" "" "0000981821" "00003066" "30" "-5074" "0" "-5074" "0" "c.-5074G>A" "r.(?)" "p.(=)" "" "0000981822" "00003066" "90" "2464" "0" "2464" "0" "c.2464dup" "r.(?)" "p.(Arg822Profs*39)" "" "0001002183" "00003066" "50" "1601" "0" "1601" "0" "c.1601G>A" "r.(?)" "p.(Arg534Gln)" "" "0001015378" "00003066" "30" "630" "16" "630" "16" "c.630+16C>G" "r.(=)" "p.(=)" "" "0001015379" "00003066" "30" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(=)" "" "0001015380" "00003066" "30" "1935" "0" "1935" "0" "c.1935C>T" "r.(?)" "p.(Asn645=)" "" "0001015381" "00003066" "30" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Ala846Thr)" "" "0001022110" "00003066" "70" "136" "1" "136" "1" "c.136+1G>T" "r.[119_136del,=]" "p.[Glu40_Glu45del,=]" "2i" "0001041024" "00003066" "50" "2458" "0" "2458" "0" "c.2458C>A" "r.(?)" "p.(Pro820Thr)" "" "0001041025" "00003066" "30" "2525" "-4" "2525" "-4" "c.2525-4A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000004082" "0000022987" "0000004082" "0000022988" "0000050403" "0000079383" "0000050628" "0000079608" "0000205226" "0000417817" "0000292606" "0000649295" "0000315233" "0000697322" "0000315234" "0000697323" "0000315235" "0000697324" "0000315236" "0000697325" "0000363219" "0000763687" "0000389008" "0000817801" "0000391266" "0000820998" "0000413239" "0000870665" "0000437881" "0000933324" "0000437881" "0000933325" "0000444118" "0000945975" "0000444201" "0000946058" "0000444202" "0000946059" "0000462583" "0001022110"