### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPP3CA) # 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}}" "PPP3CA" "protein phosphatase 3, catalytic subunit, alpha isozyme" "4" "q24" "unknown" "NC_000004.11" "UD_136090268974" "" "https://www.LOVD.nl/PPP3CA" "" "1" "9314" "5530" "114105" "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/PPP3CA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-01 14:32:21" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00016709" "PPP3CA" "transcript variant 1" "003" "NM_000944.4" "" "NP_000935.1" "" "" "" "-675" "4001" "1566" "102268628" "101944587" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05434" "IECEE1" "encephalopathy, epileptic, infantile or early childhood, type 1 ( IECEE-1)" "AD" "617711" "" "autosomal dominant" "" "00006" "2018-06-01 14:36:04" "00006" "2021-12-10 21:51:32" "06639" "ACCIID" "Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development" "AD" "618265" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PPP3CA" "05434" "PPP3CA" "06639" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00164481" "" "" "" "1" "" "02373" "" "" "M" "no" "Poland" "09y" "0" "" "" "" "R_1250" "00205868" "" "" "" "1" "" "03104" "" "" "F" "no" "China" "" "0" "" "" "" "patient7" "00314890" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "F" "" "Israel" "" "0" "" "" "" "Trio70" "00451529" "" "" "" "1" "" "03112" "" "" "M" "no" "Italy" "07y" "" "" "" "" "" "00451530" "" "" "" "1" "" "03112" "" "" "M" "no" "Italy" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00164481" "04270" "00205868" "04270" "00314890" "00198" "00451529" "05434" "00451530" "05434" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04270, 05434, 06639 ## Count = 5 "{{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}}" "0000129519" "04270" "00164481" "02373" "Isolated (sporadic)" "06y" "Epileptic encephalopathy (HP:0200134); Abnormal facial shape (HP:0001999)" "" "07y" "" "" "" "" "" "" "severe early onset epileptic encephalopathy" "epilepsy" "" "0000154011" "04270" "00205868" "03104" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238648" "00198" "00314890" "00006" "Unknown" "5y" "Severe intellectual disability and epilepsy." "2y" "" "" "" "" "" "" "" "" "" "" "0000340204" "05434" "00451529" "03112" "Isolated (sporadic)" "00y02m" "" "" "" "" "" "" "" "" "" "" "IECEE-1" "" "0000340205" "05434" "00451530" "03112" "Isolated (sporadic)" "05y" "" "" "" "" "" "" "" "" "" "" "IECEE-1" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165347" "00164481" "1" "02373" "02373" "2018-05-28 10:57:49" "" "" "SEQ-NG-I" "DNA" "whole blood" "" "0000206898" "00205868" "1" "03104" "03104" "2018-11-12 12:29:05" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000316064" "00314890" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000453130" "00451529" "1" "03112" "03112" "2024-06-10 12:41:53" "" "" "SEQ-NG" "DNA" "blood" "" "0000453131" "00451530" "1" "03112" "03112" "2024-06-10 12:59:18" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000206898" "PPP3CA" "0000316064" "PPP3CA" ## 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 = 33 "{{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}}" "0000301154" "0" "10" "4" "102014919" "102014919" "subst" "0.0301663" "02326" "PPP3CA_000003" "g.102014919T>G" "" "" "" "PPP3CA(NM_000944.5):c.782+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101093762T>G" "" "benign" "" "0000306247" "0" "50" "4" "101950338" "101950338" "subst" "0" "01943" "PPP3CA_000001" "g.101950338T>A" "" "" "" "PPP3CA(NM_000944.5):c.1354A>T (p.I452F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101029181T>A" "" "VUS" "" "0000330056" "0" "30" "4" "102117241" "102117241" "subst" "0.000423277" "01804" "PPP3CA_000004" "g.102117241C>A" "" "" "" "PPP3CA(NM_000944.4):c.91G>T (p.(Ala31Ser)), PPP3CA(NM_000944.5):c.91G>T (p.A31S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101196084C>A" "" "likely benign" "" "0000369009" "0" "90" "4" "101953439" "101953439" "subst" "0" "02373" "PPP3CA_000005" "g.101953439G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.101032282G>A" "" "pathogenic" "" "0000436545" "0" "90" "4" "101953483" "101953483" "dup" "0" "03104" "PPP3CA_000006" "g.101953483dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.101032326dup" "" "pathogenic" "" "0000521039" "0" "30" "4" "101982237" "101982237" "subst" "0.00363722" "01804" "PPP3CA_000008" "g.101982237C>A" "" "" "" "PPP3CA(NM_000944.4):c.1156+7G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101061080C>A" "" "likely benign" "" "0000521040" "0" "50" "4" "102004359" "102004359" "subst" "0" "01943" "PPP3CA_000009" "g.102004359C>T" "" "" "" "PPP3CA(NM_000944.5):c.844G>A (p.E282K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101083202C>T" "" "VUS" "" "0000521041" "0" "70" "4" "102015015" "102015015" "subst" "0" "01943" "PPP3CA_000010" "g.102015015C>A" "" "" "" "PPP3CA(NM_000944.5):c.700G>T (p.D234Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101093858C>A" "" "likely pathogenic" "" "0000521042" "0" "30" "4" "102117241" "102117241" "subst" "0.000423277" "02326" "PPP3CA_000004" "g.102117241C>A" "" "" "" "PPP3CA(NM_000944.4):c.91G>T (p.(Ala31Ser)), PPP3CA(NM_000944.5):c.91G>T (p.A31S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101196084C>A" "" "likely benign" "" "0000521043" "0" "30" "4" "102267892" "102267892" "subst" "2.58122E-5" "01804" "PPP3CA_000011" "g.102267892T>C" "" "" "" "PPP3CA(NM_000944.5):c.58+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101346735T>C" "" "likely benign" "" "0000677130" "0" "30" "4" "101961622" "101961622" "subst" "0.000857672" "02326" "PPP3CA_000013" "g.101961622A>G" "" "" "" "PPP3CA(NM_000944.5):c.1241+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677131" "0" "30" "4" "102020796" "102020796" "subst" "9.81832E-5" "02326" "PPP3CA_000014" "g.102020796T>C" "" "" "" "PPP3CA(NM_000944.5):c.468A>G (p.L156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689181" "0" "50" "4" "102004398" "102004398" "subst" "0" "01943" "PPP3CA_000015" "g.102004398A>C" "" "" "" "PPP3CA(NM_000944.5):c.805T>G (p.L269V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000698190" "0" "70" "4" "101953424" "101953424" "subst" "0" "00006" "PPP3CA_000016" "g.101953424C>T" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.101032267C>T" "" "VUS" "" "0000719668" "0" "50" "4" "101947052" "101947052" "subst" "0" "01943" "PPP3CA_000017" "g.101947052G>T" "" "" "" "PPP3CA(NM_000944.5):c.1536C>A (p.S512R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719669" "0" "50" "4" "101953424" "101953424" "subst" "0" "02329" "PPP3CA_000012" "g.101953424C>A" "" "" "" "PPP3CA(NM_000944.5):c.1339G>T (p.A447S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719670" "0" "30" "4" "102117241" "102117241" "subst" "0.000423277" "01943" "PPP3CA_000004" "g.102117241C>A" "" "" "" "PPP3CA(NM_000944.4):c.91G>T (p.(Ala31Ser)), PPP3CA(NM_000944.5):c.91G>T (p.A31S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801429" "0" "90" "4" "102004359" "102004359" "subst" "0" "02327" "PPP3CA_000009" "g.102004359C>T" "" "" "" "PPP3CA(NM_000944.5):c.844G>A (p.E282K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850457" "0" "30" "4" "101947163" "101947163" "subst" "0.000326093" "02326" "PPP3CA_000018" "g.101947163G>A" "" "" "" "PPP3CA(NM_000944.5):c.1425C>T (p.G475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850458" "0" "90" "4" "102004360" "102004360" "subst" "0" "02325" "PPP3CA_000020" "g.102004360G>C" "" "" "" "PPP3CA(NM_000944.5):c.843C>G (p.H281Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000859176" "0" "30" "4" "101947202" "101947202" "subst" "0.000521147" "01943" "PPP3CA_000019" "g.101947202T>C" "" "" "" "PPP3CA(NM_000944.5):c.1386A>G (p.S462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859177" "0" "30" "4" "101953425" "101953425" "subst" "0.00030749" "01943" "PPP3CA_000002" "g.101953425G>A" "" "" "" "PPP3CA(NM_000944.5):c.1338C>T (p.S446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922187" "0" "50" "4" "102001714" "102001714" "subst" "0" "03779" "PPP3CA_000021" "g.102001714A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000948236" "0" "50" "4" "102020822" "102020822" "subst" "0" "02327" "PPP3CA_000022" "g.102020822G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976031" "0" "30" "4" "102117217" "102117217" "subst" "0" "01804" "PPP3CA_000023" "g.102117217C>T" "" "" "" "PPP3CA(NM_000944.5):c.115G>A (p.(Gly39Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987643" "0" "90" "4" "101953508" "101953511" "dup" "0" "03112" "PPP3CA_000025" "g.101953508_101953511dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.101032351_101032354dup" "" "pathogenic (dominant)" "ACMG" "0000987644" "0" "90" "4" "101950353" "101950353" "subst" "0" "03112" "PPP3CA_000024" "g.101950353G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.101029196C>G" "" "pathogenic (dominant)" "ACMG" "0000993984" "0" "30" "4" "101961641" "101961641" "subst" "1.64616E-5" "01804" "PPP3CA_000026" "g.101961641G>A" "" "" "" "PPP3CA(NM_000944.4):c.1239C>T (p.(Leu413Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993985" "0" "30" "4" "102015069" "102015069" "subst" "4.38131E-6" "01804" "PPP3CA_000027" "g.102015069C>T" "" "" "" "PPP3CA(NM_000944.4):c.646G>A (p.(Asp216Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034223" "0" "30" "4" "102044683" "102044683" "subst" "0" "01804" "PPP3CA_000028" "g.102044683G>A" "" "" "" "PPP3CA(NM_000944.5):c.260-14448C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034224" "0" "30" "4" "102057662" "102057662" "subst" "0" "01804" "PPP3CA_000029" "g.102057662C>T" "" "" "" "PPP3CA(NM_000944.5):c.260-27427G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034225" "0" "30" "4" "102092522" "102092523" "ins" "0" "01804" "PPP3CA_000030" "g.102092522_102092523insG" "" "" "" "PPP3CA(NM_000944.5):c.259+24550_259+24551insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064229" "0" "30" "4" "102019646" "102019646" "subst" "6.58496E-5" "02325" "PPP3CA_000031" "g.102019646C>T" "" "" "" "" "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 PPP3CA ## Count = 33 "{{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}}" "0000301154" "00016709" "10" "782" "14" "782" "14" "c.782+14A>C" "r.(=)" "p.(=)" "" "0000306247" "00016709" "50" "1354" "0" "1354" "0" "c.1354A>T" "r.(?)" "p.(Ile452Phe)" "" "0000330056" "00016709" "30" "91" "0" "91" "0" "c.91G>T" "r.(?)" "p.(Ala31Ser)" "" "0000369009" "00016709" "90" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Gln442*)" "12" "0000436545" "00016709" "90" "1283" "0" "1283" "0" "c.1283dup" "r.(?)" "p.(Thr429Asnfs*22)" "" "0000521039" "00016709" "30" "1156" "7" "1156" "7" "c.1156+7G>T" "r.(=)" "p.(=)" "" "0000521040" "00016709" "50" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Glu282Lys)" "" "0000521041" "00016709" "70" "700" "0" "700" "0" "c.700G>T" "r.(?)" "p.(Asp234Tyr)" "" "0000521042" "00016709" "30" "91" "0" "91" "0" "c.91G>T" "r.(?)" "p.(Ala31Ser)" "" "0000521043" "00016709" "30" "58" "4" "58" "4" "c.58+4A>G" "r.spl?" "p.?" "" "0000677130" "00016709" "30" "1241" "17" "1241" "17" "c.1241+17T>C" "r.(=)" "p.(=)" "" "0000677131" "00016709" "30" "468" "0" "468" "0" "c.468A>G" "r.(?)" "p.(Leu156=)" "" "0000689181" "00016709" "50" "805" "0" "805" "0" "c.805T>G" "r.(?)" "p.(Leu269Val)" "" "0000698190" "00016709" "70" "1339" "0" "1339" "0" "c.1339G>A" "r.(?)" "p.(Ala447Thr)" "" "0000719668" "00016709" "50" "1536" "0" "1536" "0" "c.1536C>A" "r.(?)" "p.(Ser512Arg)" "" "0000719669" "00016709" "50" "1339" "0" "1339" "0" "c.1339G>T" "r.(?)" "p.(Ala447Ser)" "" "0000719670" "00016709" "30" "91" "0" "91" "0" "c.91G>T" "r.(?)" "p.(Ala31Ser)" "" "0000801429" "00016709" "90" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Glu282Lys)" "" "0000850457" "00016709" "30" "1425" "0" "1425" "0" "c.1425C>T" "r.(?)" "p.(Gly475=)" "" "0000850458" "00016709" "90" "843" "0" "843" "0" "c.843C>G" "r.(?)" "p.(His281Gln)" "" "0000859176" "00016709" "30" "1386" "0" "1386" "0" "c.1386A>G" "r.(?)" "p.(Ser462=)" "" "0000859177" "00016709" "30" "1338" "0" "1338" "0" "c.1338C>T" "r.(?)" "p.(Ser446=)" "" "0000922187" "00016709" "50" "930" "0" "930" "0" "c.930T>G" "r.(?)" "p.(Asn310Lys)" "" "0000948236" "00016709" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Cys)" "" "0000976031" "00016709" "30" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Gly39Arg)" "" "0000987643" "00016709" "90" "1253" "0" "1256" "0" "c.1253_1256dup" "r.(?)" "p.(Ser419Argfs*33)" "12" "0000987644" "00016709" "90" "1340" "-1" "1340" "-1" "c.1340-1G>C" "r.spl" "p.?" "12i" "0000993984" "00016709" "30" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(=)" "" "0000993985" "00016709" "30" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Asp216Asn)" "" "0001034223" "00016709" "30" "260" "-14448" "260" "-14448" "c.260-14448C>T" "r.(=)" "p.(=)" "" "0001034224" "00016709" "30" "260" "-27427" "260" "-27427" "c.260-27427G>A" "r.(=)" "p.(=)" "" "0001034225" "00016709" "30" "259" "24550" "259" "24551" "c.259+24550_259+24551insC" "r.(=)" "p.(=)" "" "0001064229" "00016709" "30" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Val174Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000165347" "0000369009" "0000206898" "0000436545" "0000316064" "0000698190" "0000453130" "0000987643" "0000453131" "0000987644"