### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LIPA) # 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}}" "LIPA" "lipase A, lysosomal acid, cholesterol esterase" "10" "q23.2-q23.3" "unknown" "NG_008194.1" "UD_132118452049" "" "https://www.LOVD.nl/LIPA" "" "1" "6617" "3988" "613497" "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/LIPA_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2018-03-05 16:13:04" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00025258" "LIPA" "transcript variant 1" "001" "NM_001127605.1" "" "NP_001121077.1" "" "" "" "-198" "2459" "1200" "91011660" "90973326" "00006" "2018-03-05 16:14:44" "" "" "00026028" "LIPA" "transcript variant 2 (expired, new version available)" "002" "NM_000235.3" "" "NP_000226.2" "" "" "" "-168" "2456" "1200" "91011660" "90973329" "00006" "2025-11-07 19:44:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01802" "GM1G1" "gangliosidosis, GM1, type I" "AR" "230500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-03-17 08:50:34" "02130" "CESD" "cholesteryl ester storage disease" "AR" "278000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-07 19:47:55" "07052" "adrenal hyperplasia" "adrenal hyperplasia" "" "" "" "" "" "00006" "2023-12-24 11:17:16" "00006" "2025-10-31 12:56:23" "07198" "WOLD" "Wolman disease" "AR" "620151" "" "" "" "00006" "2025-11-07 19:49:01" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "LIPA" "02130" "LIPA" "07198" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00326001" "" "" "" "1" "" "03696" "{PMID:Tebani 2021:33857477}" "" "F" "no" "" "" "0" "" "" "" "Pat5" "00326003" "" "" "" "1" "" "03696" "{PMID:Tebani 2021:33857477}" "" "M" "yes" "" "" "0" "" "" "" "Pat16" "00327489" "" "" "" "1" "" "03696" "{PMID:Tebani 2021:33857477}" "" "F" "no" "" "" "0" "" "" "" "Pat6" "00327491" "" "" "" "1" "" "03696" "{PMID:Tebani 2021:33857477}" "" "F" "no" "" "" "0" "" "" "" "Pat7" "00327492" "" "" "" "1" "" "03696" "{PMID:Tebani 2021:33857477}" "" "F" "no" "" "" "0" "" "" "" "Pat13" "00327494" "" "" "" "1" "" "03696" "{PMID:Tebani 2021:33857477}" "" "M" "no" "" "" "0" "" "" "" "Pat11" "00327495" "" "" "" "1" "" "03696" "{PMID:Tebani 2021:33857477}" "" "F" "no" "" "" "0" "" "" "" "Pat10" "00390627" "" "" "" "1" "" "03696" "{PMID:Tebani 2021:33857477}" "" "" "" "" "" "0" "" "" "" "Pat4" "00390628" "" "" "" "1" "" "00006" "{PMID:Tebani 2021:33857477}" "" "F" "" "" "" "0" "" "" "" "Pat1" "00390629" "" "" "" "1" "" "00006" "{PMID:Tebani 2021:33857477}" "" "F" "" "" "" "0" "" "" "" "Pat12" "00390630" "" "" "" "1" "" "00006" "{PMID:Tebani 2021:33857477}" "" "M" "" "" "" "0" "" "" "" "Pat15" "00390631" "" "" "" "1" "" "00006" "{PMID:Tebani 2021:33857477}" "" "M" "" "" "" "0" "" "" "" "Pat17" "00390632" "" "" "" "1" "" "00006" "{PMID:Tebani 2021:33857477}" "" "F" "" "" "" "0" "" "" "" "Pat18" "00390633" "" "" "" "1" "" "00006" "{PMID:Tebani 2021:33857477}" "" "F" "" "" "" "0" "" "" "" "Pat19" "00390634" "" "" "" "1" "" "00006" "{PMID:Tebani 2021:33857477}" "" "M" "" "" "" "0" "" "" "" "Pat2" "00390635" "" "" "" "1" "" "00006" "{PMID:Tebani 2021:33857477}" "" "M" "" "" "" "0" "" "" "" "Pat3" "00390636" "" "" "" "1" "" "00006" "{PMID:Tebani 2021:33857477}" "" "F" "" "" "" "0" "" "" "" "Pat9" "00444497" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat105" "00468277" "" "" "" "1" "" "00006" "{PMID:Klima 1993:8254026}, {PMID:Aslanidis 1996:8617513}" "2-generation family, 1 affected, unaffected parents" "M" "" "Germany;Poland" "" "0" "" "" "" "FamPatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00326001" "02130" "00326003" "02130" "00327489" "02130" "00327491" "02130" "00327492" "02130" "00327494" "02130" "00327495" "02130" "00390627" "02130" "00390628" "01802" "00390629" "01802" "00390630" "01802" "00390631" "01802" "00390632" "01802" "00390633" "01802" "00390634" "01802" "00390635" "01802" "00390636" "01802" "00444497" "07052" "00468277" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 01802, 02130, 07052, 07198 ## Count = 19 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000244486" "02130" "00326001" "03696" "Familial, autosomal recessive" "" "Hepatomegaly HP:0002240\r\nHepatic steatosis HP:0001397\r\nHypercholesterolemia HP:0003124\r\nElevated serum alanine aminotransferase HP:0031964" "" "45y" "" "" "" "" "" "" "" "" "" "0000244488" "02130" "00326003" "03696" "Familial, autosomal recessive" "" "Hepatomegaly HP:0002240\r\nDeath in infancy HP:0001522\r\nHypertriglyceridemia HP:0002155\r\nFailure to thrive HP:0001508\r\nSplenomegaly HP:0001744\r\nElevated serum alanine aminotransferase HP:0031964\r\nAdrenal calcification HP:0010512\r\nAnemia HP:0001903" "" "" "" "" "" "" "" "" "" "" "" "0000245776" "02130" "00327489" "03696" "Familial, autosomal recessive" "" "Hepatomegaly HP:0002240\r\nHypertriglyceridemia HP:0002155\r\nHypercholesterolemia HP:0003124\r\nSplenomegaly HP:0001744\r\nHeaptic fibrosis HP:0001395\r\nAbnormality of the cardiovascular system HP:0001626" "" "08y" "" "" "" "" "" "" "" "" "" "0000245777" "02130" "00327491" "03696" "Familial, autosomal recessive" "" "Hepatomegaly HP:0002240\r\nHypercholesterolemia HP:0003124\r\nElevated serum alanine aminotransferase HP:0031964\r\nDiarrhea HP:0002014" "" "11y" "" "" "" "" "" "" "CESD" "" "" "0000245778" "02130" "00327492" "03696" "Familial, autosomal recessive" "" "Hepatomegaly HP:0002240\r\nHypertriglyceridemia HP:0002155\r\nHypercholesterolemia HP:0003124\r\nElevated serum alanine aminotransferase HP:0031964\r\nProtuberant abdomen HP:0001538\r\nHepatic fibrosis HP:0001395\r\nAnemia HP:0001903" "" "03y" "" "" "" "" "" "" "CESD" "" "" "0000245779" "02130" "00327494" "03696" "Familial, autosomal recessive" "" "Hepatomegaly HP:0002240\r\nHypercholesterolemia HP:0003124\r\nElevated serum alanine aminotransferase HP:0031964\r\nProtuberant abdomen HP:0001538" "" "07y" "" "" "" "" "" "" "" "" "" "0000245780" "02130" "00327495" "03696" "Familial, autosomal recessive" "" "Hepatomegaly HP:0002240\r\nHepatic steatosis HP:0001397\r\nHypertriglyceridemia HP:0002155\r\nHypercholesterolemia HP:0003124\r\nElevated serum alanine aminotransferase HP:0031964" "" "06y" "" "" "" "" "" "" "CESD" "" "" "0000284164" "01802" "00390628" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "lysosomal acid lipase deficiency" "" "0000284165" "01802" "00390629" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "lysosomal acid lipase deficiency" "" "0000284166" "01802" "00390630" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "lysosomal acid lipase deficiency" "" "0000284167" "01802" "00390631" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "lysosomal acid lipase deficiency" "" "0000284168" "01802" "00390632" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "lysosomal acid lipase deficiency" "" "0000284169" "01802" "00390633" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "lysosomal acid lipase deficiency" "" "0000284170" "01802" "00390634" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "lysosomal acid lipase deficiency" "" "0000284171" "01802" "00390635" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "lysosomal acid lipase deficiency" "" "0000284172" "01802" "00390636" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "lysosomal acid lipase deficiency" "" "0000333750" "07052" "00444497" "00006" "Familial, autosomal recessive" "" "diarrhea; recurrent infections; weight loss; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "11d" "" "" "" "" "" "" "" "WOLD" "Wolman disease" "" "0000353429" "00198" "00468277" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., incidental finding hepatosplenomegaly, no significant clini-\r\ncal symptoms." "" "" "" "" "" "" "" "" "CESD" "hepatosplenomegaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000327211" "00326001" "1" "03696" "03696" "2021-01-06 15:53:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000327213" "00326003" "1" "03696" "03696" "2021-01-06 16:44:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000328703" "00327489" "1" "03696" "03696" "2021-01-22 11:10:29" "" "" "?" "DNA" "" "" "0000328706" "00327491" "1" "03696" "03696" "2021-01-22 11:16:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000328707" "00327492" "1" "03696" "03696" "2021-01-22 11:21:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000328709" "00327494" "1" "03696" "03696" "2021-01-22 11:26:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000328710" "00327495" "1" "03696" "03696" "2021-01-22 11:28:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000391868" "00390627" "1" "03696" "03696" "2021-01-06 16:44:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000391869" "00390628" "1" "00006" "00006" "2021-11-10 19:14:20" "" "" "SEQ" "DNA" "" "" "0000391870" "00390629" "1" "00006" "00006" "2021-11-10 19:14:20" "" "" "SEQ" "DNA" "" "" "0000391871" "00390630" "1" "00006" "00006" "2021-11-10 19:14:20" "" "" "SEQ" "DNA" "" "" "0000391872" "00390631" "1" "00006" "00006" "2021-11-10 19:14:20" "" "" "SEQ" "DNA" "" "" "0000391873" "00390632" "1" "00006" "00006" "2021-11-10 19:14:20" "" "" "SEQ" "DNA" "" "" "0000391874" "00390633" "1" "00006" "00006" "2021-11-10 19:14:20" "" "" "SEQ" "DNA" "" "" "0000391875" "00390634" "1" "00006" "00006" "2021-11-10 19:14:20" "" "" "SEQ" "DNA" "" "" "0000391876" "00390635" "1" "00006" "00006" "2021-11-10 19:14:20" "" "" "SEQ" "DNA" "" "" "0000391877" "00390636" "1" "00006" "00006" "2021-11-10 19:14:20" "" "" "SEQ" "DNA" "" "" "0000446065" "00444497" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000469943" "00468277" "1" "00006" "00006" "2025-11-07 19:49:34" "" "" "RT-PCR;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000327211" "LIPA" "0000327213" "LIPA" "0000328703" "LIPA" "0000328706" "LIPA" "0000328707" "LIPA" "0000328709" "LIPA" "0000328710" "LIPA" "0000391868" "LIPA" "0000391869" "LIPA" "0000391870" "LIPA" "0000391871" "LIPA" "0000391872" "LIPA" "0000391873" "LIPA" "0000391874" "LIPA" "0000391875" "LIPA" "0000391876" "LIPA" "0000391877" "LIPA" "0000446065" "LIPA" "0000469943" "LIPA" ## 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 = 175 "{{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}}" "0000012865" "3" "50" "10" "90984787" "90984787" "subst" "0" "00037" "LIPA_000001" "g.90984787T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.89225030T>G" "" "VUS" "" "0000246956" "0" "90" "10" "90988062" "90988062" "subst" "0" "02330" "LIPA_000016" "g.90988062A>T" "" "" "" "LIPA(NM_000235.4):c.323T>A (p.L108H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89228305A>T" "" "pathogenic" "" "0000252473" "0" "90" "10" "90984897" "90984897" "subst" "0" "02326" "LIPA_000011" "g.90984897A>T" "" "" "" "LIPA(NM_000235.4):c.627T>A (p.C209*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89225140A>T" "" "pathogenic" "" "0000279093" "0" "50" "10" "90974776" "90974776" "subst" "0.000710729" "02330" "LIPA_000004" "g.90974776T>C" "" "" "" "LIPA(NM_000235.4):c.1009A>G (p.T337A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89215019T>C" "" "VUS" "" "0000279094" "0" "10" "10" "90974762" "90974762" "subst" "2.43683E-5" "02330" "LIPA_000003" "g.90974762G>A" "" "" "" "LIPA(NM_000235.4):c.1023C>T (p.S341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89215005G>A" "" "benign" "" "0000279095" "0" "30" "10" "90974677" "90974677" "subst" "1.21835E-5" "02330" "LIPA_000002" "g.90974677G>C" "" "" "" "LIPA(NM_000235.4):c.1108C>G (p.P370A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89214920G>C" "" "likely benign" "" "0000279096" "0" "30" "10" "91007275" "91007275" "subst" "0.000118851" "02330" "LIPA_000021" "g.91007275C>T" "" "" "" "LIPA(NM_001127605.3):c.111+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89247518C>T" "" "likely benign" "" "0000279097" "0" "10" "10" "91005556" "91005556" "subst" "0.00116237" "02330" "LIPA_000020" "g.91005556G>A" "" "" "" "LIPA(NM_000235.4):c.112-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89245799G>A" "" "benign" "" "0000279098" "0" "30" "10" "91005549" "91005549" "subst" "0" "02330" "LIPA_000019" "g.91005549C>T" "" "" "" "LIPA(NM_000235.4):c.113G>A (p.S38N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89245792C>T" "" "likely benign" "" "0000279099" "0" "10" "10" "91005435" "91005435" "subst" "0" "02330" "LIPA_000018" "g.91005435T>C" "" "" "" "LIPA(NM_000235.4):c.227A>G (p.K76R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89245678T>C" "" "benign" "" "0000279100" "0" "70" "10" "90988072" "90988072" "subst" "0" "02330" "LIPA_000017" "g.90988072C>T" "" "" "" "LIPA(NM_000235.4):c.313G>A (p.G105S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89228315C>T" "" "likely pathogenic" "" "0000279101" "0" "50" "10" "90988005" "90988005" "subst" "0.00011779" "02330" "LIPA_000015" "g.90988005C>T" "" "" "" "LIPA(NM_000235.4):c.380G>A (p.R127Q), LIPA(NM_001127605.3):c.380G>A (p.R127Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89228248C>T" "" "VUS" "" "0000279102" "0" "10" "10" "90987989" "90987989" "subst" "0.000800234" "02330" "LIPA_000014" "g.90987989G>C" "" "" "" "LIPA(NM_000235.4):c.396C>G (p.L132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89228232G>C" "" "benign" "" "0000279103" "0" "30" "10" "91007364" "91007364" "subst" "4.06111E-6" "02330" "LIPA_000024" "g.91007364G>C" "" "" "" "LIPA(NM_000235.4):c.42C>G (p.L14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89247607G>C" "" "likely benign" "" "0000279104" "0" "10" "10" "91007360" "91007360" "subst" "0.322372" "02330" "LIPA_000023" "g.91007360T>G" "" "" "" "LIPA(NM_000235.4):c.46A>C (p.T16P), LIPA(NM_001127605.3):c.46A>C (p.T16P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89247603T>G" "" "benign" "" "0000279105" "0" "10" "10" "90985002" "90985002" "subst" "0.00138382" "02330" "LIPA_000013" "g.90985002C>T" "" "" "" "LIPA(NM_000235.4):c.539-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89225245C>T" "" "benign" "" "0000279106" "0" "10" "10" "90984990" "90984990" "subst" "0.288408" "02330" "LIPA_000012" "g.90984990G>A" "" "" "" "LIPA(NM_000235.4):c.539-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89225233G>A" "" "benign" "" "0000279107" "0" "30" "10" "90984862" "90984862" "subst" "0.000251787" "02330" "LIPA_000010" "g.90984862T>C" "" "" "" "LIPA(NM_001127605.3):c.662A>G (p.D221G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89225105T>C" "" "likely benign" "" "0000279108" "0" "10" "10" "91007339" "91007339" "subst" "0.0943537" "02330" "LIPA_000022" "g.91007339C>T" "" "" "" "LIPA(NM_001127605.3):c.67G>A (p.G23R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89247582C>T" "" "benign" "" "0000279109" "0" "10" "10" "90983509" "90983509" "subst" "0.00139156" "02330" "LIPA_000009" "g.90983509T>A" "" "" "" "LIPA(NM_000235.3):c.754A>T (p.I252L), LIPA(NM_000235.4):c.754A>T (p.I252L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89223752T>A" "" "benign" "" "0000279110" "0" "10" "10" "90982261" "90982261" "subst" "0.00139474" "02330" "LIPA_000007" "g.90982261T>C" "" "" "" "LIPA(NM_000235.4):c.894+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89222504T>C" "" "benign" "" "0000279111" "0" "90" "10" "90982268" "90982268" "subst" "0.000914872" "02330" "LIPA_000008" "g.90982268C>T" "" "" "" "LIPA(NM_000235.3):c.894G>A (p.Q298=), LIPA(NM_000235.4):c.894G>A (p.Q298=, p.(Gln298=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89222511C>T" "" "pathogenic" "" "0000279112" "0" "50" "10" "90975692" "90975692" "subst" "0.000142154" "02330" "LIPA_000006" "g.90975692T>A" "" "" "" "LIPA(NM_001127605.3):c.966+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89215935T>A" "" "VUS" "" "0000279113" "0" "70" "10" "90974786" "90974786" "subst" "0" "02330" "LIPA_000005" "g.90974786C>T" "" "" "" "LIPA(NM_000235.4):c.999G>A (p.M333I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89215029C>T" "" "likely pathogenic" "" "0000282218" "0" "10" "10" "91007360" "91007360" "subst" "0.322372" "02325" "LIPA_000023" "g.91007360T>G" "" "" "" "LIPA(NM_000235.4):c.46A>C (p.T16P), LIPA(NM_001127605.3):c.46A>C (p.T16P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89247603T>G" "" "benign" "" "0000285984" "0" "70" "10" "90982268" "90982268" "subst" "0.000914872" "02326" "LIPA_000008" "g.90982268C>T" "" "" "" "LIPA(NM_000235.3):c.894G>A (p.Q298=), LIPA(NM_000235.4):c.894G>A (p.Q298=, p.(Gln298=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89222511C>T" "" "likely pathogenic" "" "0000541500" "0" "90" "10" "90974630" "90974630" "subst" "0" "02330" "LIPA_000025" "g.90974630C>T" "" "" "" "LIPA(NM_000235.4):c.1155G>A (p.W385*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89214873C>T" "" "pathogenic" "" "0000541501" "0" "30" "10" "90974696" "90974696" "subst" "0" "02330" "LIPA_000026" "g.90974696C>T" "" "" "" "LIPA(NM_000235.4):c.1089G>A (p.L363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89214939C>T" "" "likely benign" "" "0000541502" "0" "50" "10" "90974752" "90974752" "subst" "0" "02330" "LIPA_000027" "g.90974752C>G" "" "" "" "LIPA(NM_000235.4):c.1033G>C (p.D345H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89214995C>G" "" "VUS" "" "0000541503" "0" "30" "10" "90974777" "90974777" "subst" "9.34124E-5" "02330" "LIPA_000028" "g.90974777C>T" "" "" "" "LIPA(NM_001127605.3):c.1008G>A (p.P336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89215020C>T" "" "likely benign" "" "0000541504" "0" "10" "10" "90975117" "90975117" "subst" "0" "02330" "LIPA_000029" "g.90975117C>G" "" "" "" "LIPA(NM_000235.4):c.967-299G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89215360C>G" "" "benign" "" "0000541505" "0" "10" "10" "90975649" "90975649" "subst" "0.210914" "02330" "LIPA_000030" "g.90975649G>A" "" "" "" "LIPA(NM_000235.4):c.966+46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89215892G>A" "" "benign" "" "0000541506" "0" "50" "10" "90975757" "90975757" "subst" "4.06286E-6" "02330" "LIPA_000031" "g.90975757A>C" "" "" "" "LIPA(NM_000235.4):c.904T>G (p.F302V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89216000A>C" "" "VUS" "" "0000541507" "0" "50" "10" "90975773" "90975773" "subst" "2.84541E-5" "02330" "LIPA_000032" "g.90975773A>G" "" "" "" "LIPA(NM_000235.4):c.895-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89216016A>G" "" "VUS" "" "0000541508" "0" "10" "10" "90982081" "90982081" "subst" "0" "02330" "LIPA_000033" "g.90982081A>G" "" "" "" "LIPA(NM_000235.4):c.894+187T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89222324A>G" "" "benign" "" "0000541509" "0" "30" "10" "90982271" "90982271" "subst" "0.000276515" "02330" "LIPA_000034" "g.90982271G>A" "" "" "" "LIPA(NM_001127605.3):c.891C>T (p.S297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89222514G>A" "" "likely benign" "" "0000541510" "0" "30" "10" "90983509" "90983509" "subst" "0.00139156" "01943" "LIPA_000009" "g.90983509T>A" "" "" "" "LIPA(NM_000235.3):c.754A>T (p.I252L), LIPA(NM_000235.4):c.754A>T (p.I252L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89223752T>A" "" "likely benign" "" "0000541511" "0" "30" "10" "90983514" "90983514" "subst" "2.84764E-5" "02330" "LIPA_000035" "g.90983514T>G" "" "" "" "LIPA(NM_000235.4):c.749A>C (p.H250P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89223757T>G" "" "likely benign" "" "0000541512" "0" "30" "10" "90983533" "90983533" "subst" "0" "02330" "LIPA_000036" "g.90983533C>T" "" "" "" "LIPA(NM_000235.4):c.730G>A (p.G244S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89223776C>T" "" "likely benign" "" "0000541513" "0" "70" "10" "90983580" "90983580" "subst" "0.000207548" "02330" "LIPA_000037" "g.90983580A>G" "" "" "" "LIPA(NM_000235.4):c.683T>C (p.F228S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89223823A>G" "" "likely pathogenic" "" "0000541514" "0" "50" "10" "90983580" "90983580" "subst" "0.000207548" "02325" "LIPA_000037" "g.90983580A>G" "" "" "" "LIPA(NM_000235.4):c.683T>C (p.F228S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89223823A>G" "" "VUS" "" "0000541515" "0" "30" "10" "90983601" "90983601" "subst" "0" "02330" "LIPA_000038" "g.90983601A>G" "" "" "" "LIPA(NM_000235.4):c.676-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89223844A>G" "" "likely benign" "" "0000541516" "0" "30" "10" "90983629" "90983629" "subst" "0.406149" "02330" "LIPA_000039" "g.90983629C>T" "" "" "" "LIPA(NM_000235.4):c.676-42G>A, LIPA(NM_001127605.3):c.676-42G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89223872C>T" "" "likely benign" "" "0000541517" "0" "30" "10" "90984787" "90984787" "subst" "0" "02330" "LIPA_000001" "g.90984787T>G" "" "" "" "LIPA(NM_000235.4):c.675+62A>C, LIPA(NM_001127605.3):c.675+62A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89225030T>G" "" "likely benign" "" "0000541518" "0" "30" "10" "90984838" "90984838" "subst" "2.84294E-5" "02330" "LIPA_000040" "g.90984838G>T" "" "" "" "LIPA(NM_000235.4):c.675+11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89225081G>T" "" "likely benign" "" "0000541519" "0" "30" "10" "90984909" "90984909" "subst" "0.00021933" "02330" "LIPA_000041" "g.90984909G>A" "" "" "" "LIPA(NM_001127605.3):c.615C>T (p.S205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89225152G>A" "" "likely benign" "" "0000541520" "0" "70" "10" "90986670" "90986670" "subst" "0" "02330" "LIPA_000042" "g.90986670A>G" "" "" "" "LIPA(NM_000235.4):c.520T>C (p.S174P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89226913A>G" "" "likely pathogenic" "" "0000541521" "0" "30" "10" "90987007" "90987007" "subst" "0" "02330" "LIPA_000043" "g.90987007T>C" "" "" "" "LIPA(NM_000235.4):c.429-246A>G, LIPA(NM_001127605.3):c.429-246A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89227250T>C" "" "likely benign" "" "0000541522" "0" "30" "10" "90988043" "90988043" "subst" "6.90563E-5" "02330" "LIPA_000044" "g.90988043G>A" "" "" "" "LIPA(NM_001127605.3):c.342C>T (p.D114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89228286G>A" "" "likely benign" "" "0000541523" "0" "50" "10" "91005531" "91005531" "subst" "4.46933E-5" "02330" "LIPA_000045" "g.91005531C>A" "" "" "" "LIPA(NM_000235.4):c.131G>T (p.W44L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89245774C>A" "" "VUS" "" "0000541524" "0" "70" "10" "91005540" "91005540" "subst" "0" "02330" "LIPA_000046" "g.91005540A>G" "" "" "" "LIPA(NM_000235.4):c.122T>C (p.I41T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89245783A>G" "" "likely pathogenic" "" "0000541525" "0" "30" "10" "91005559" "91005559" "subst" "8.53568E-5" "02330" "LIPA_000047" "g.91005559A>G" "" "" "" "LIPA(NM_000235.4):c.112-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89245802A>G" "" "likely benign" "" "0000541526" "0" "50" "10" "91007376" "91007376" "subst" "0" "02330" "LIPA_000048" "g.91007376G>C" "" "" "" "LIPA(NM_000235.4):c.30C>G (p.V10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89247619G>C" "" "VUS" "" "0000541527" "0" "30" "10" "91007415" "91007415" "subst" "8.15368E-6" "02330" "LIPA_000049" "g.91007415T>C" "" "" "" "LIPA(NM_000235.4):c.-1-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89247658T>C" "" "likely benign" "" "0000541528" "0" "10" "10" "91007470" "91007470" "subst" "0" "02330" "LIPA_000050" "g.91007470C>A" "" "" "" "LIPA(NM_001127605.3):c.-1-64G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89247713C>A" "" "benign" "" "0000612778" "0" "30" "10" "90975322" "90975322" "subst" "0" "02330" "LIPA_000051" "g.90975322T>C" "" "" "" "LIPA(NM_000235.4):c.966+373A>G, LIPA(NM_001127605.3):c.966+373A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89215565T>C" "" "likely benign" "" "0000612779" "0" "10" "10" "90976181" "90976182" "dup" "0" "02330" "LIPA_000052" "g.90976181_90976182dup" "" "" "" "LIPA(NM_000235.4):c.895-403_895-402dupAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89216424_89216425dup" "" "benign" "" "0000612780" "0" "10" "10" "90981887" "90981887" "subst" "0" "02330" "LIPA_000054" "g.90981887T>G" "" "" "" "LIPA(NM_000235.4):c.894+381A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89222130T>G" "" "benign" "" "0000612781" "0" "50" "10" "90982273" "90982273" "subst" "9.35096E-5" "02330" "LIPA_000055" "g.90982273T>C" "" "" "" "LIPA(NM_000235.4):c.889A>G (p.S297G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89222516T>C" "" "VUS" "" "0000612782" "0" "10" "10" "90983057" "90983058" "ins" "0" "02330" "LIPA_000056" "g.90983057_90983058insAAGTT" "" "" "" "LIPA(NM_000235.4):c.822+383_822+384insAACTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89223300_89223301insAAGTT" "" "benign" "" "0000612783" "0" "10" "10" "90983288" "90983288" "subst" "0" "02330" "LIPA_000057" "g.90983288T>C" "" "" "" "LIPA(NM_000235.4):c.822+153A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89223531T>C" "" "benign" "" "0000612784" "0" "30" "10" "90983549" "90983549" "subst" "2.8478E-5" "02330" "LIPA_000058" "g.90983549C>T" "" "" "" "LIPA(NM_001127605.3):c.714G>A (p.A238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89223792C>T" "" "likely benign" "" "0000612785" "0" "30" "10" "90984991" "90984991" "subst" "0.000345658" "01943" "LIPA_000059" "g.90984991A>G" "" "" "" "LIPA(NM_000235.3):c.539-6T>C, LIPA(NM_001127605.3):c.539-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89225234A>G" "" "likely benign" "" "0000612786" "0" "30" "10" "90986860" "90986861" "del" "0" "02330" "LIPA_000061" "g.90986860_90986861del" "" "" "" "LIPA(NM_000235.4):c.429-97_429-96delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89227103_89227104del" "" "likely benign" "" "0000612787" "0" "10" "10" "90987564" "90987564" "subst" "0" "02330" "LIPA_000063" "g.90987564T>G" "" "" "" "LIPA(NM_000235.4):c.428+393A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89227807T>G" "" "benign" "" "0000612788" "0" "10" "10" "90988530" "90988530" "subst" "0" "02330" "LIPA_000065" "g.90988530A>C" "" "" "" "LIPA(NM_001127605.3):c.230-375T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89228773A>C" "" "benign" "" "0000612789" "0" "10" "10" "91005008" "91005008" "subst" "0" "02330" "LIPA_000066" "g.91005008C>T" "" "" "" "LIPA(NM_000235.4):c.229+425G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89245251C>T" "" "benign" "" "0000612790" "0" "10" "10" "91005713" "91005713" "subst" "0" "02330" "LIPA_000068" "g.91005713G>C" "" "" "" "LIPA(NM_000235.4):c.112-163C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89245956G>C" "" "benign" "" "0000612791" "0" "10" "10" "91005854" "91005854" "subst" "0" "02330" "LIPA_000069" "g.91005854C>T" "" "" "" "LIPA(NM_000235.4):c.112-304G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89246097C>T" "" "benign" "" "0000612792" "0" "10" "10" "91005952" "91005952" "subst" "0" "02330" "LIPA_000070" "g.91005952G>A" "" "" "" "LIPA(NM_000235.4):c.112-402C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89246195G>A" "" "benign" "" "0000612793" "0" "10" "10" "91007159" "91007168" "del" "0" "02330" "LIPA_000071" "g.91007159_91007168del" "" "" "" "LIPA(NM_000235.4):c.111+149_111+158delTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89247402_89247411del" "" "benign" "" "0000612794" "0" "70" "10" "91007361" "91007361" "subst" "0" "02330" "LIPA_000072" "g.91007361C>T" "" "" "" "LIPA(NM_000235.4):c.45G>A (p.W15*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89247604C>T" "" "likely pathogenic" "" "0000612795" "0" "10" "10" "91007629" "91007640" "del" "0" "02330" "LIPA_000073" "g.91007629_91007640del" "" "" "" "LIPA(NM_000235.4):c.-1-209_-1-198delTAAATAAATAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89247872_89247883del" "" "benign" "" "0000612796" "0" "10" "10" "91007633" "91007640" "dup" "0" "02330" "LIPA_000074" "g.91007633_91007640dup" "" "" "" "LIPA(NM_000235.4):c.-1-209_-1-202dupTAAATAAA, LIPA(NM_001127605.3):c.-1-205_-1-198dupTAAATAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89247876_89247883dup" "" "benign" "" "0000622454" "0" "30" "10" "90976202" "90976203" "del" "0" "02330" "LIPA_000053" "g.90976202_90976203del" "" "" "" "LIPA(NM_000235.4):c.895-420_895-419delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89216445_89216446del" "" "likely benign" "" "0000622455" "0" "50" "10" "90986679" "90986679" "subst" "1.21845E-5" "02330" "LIPA_000060" "g.90986679C>A" "" "" "" "LIPA(NM_000235.4):c.511G>T (p.V171L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89226922C>A" "" "VUS" "" "0000622456" "0" "10" "10" "90987183" "90987183" "dup" "0" "02330" "LIPA_000062" "g.90987183dup" "" "" "" "LIPA(NM_000235.4):c.429-422dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89227426dup" "" "benign" "" "0000622457" "0" "10" "10" "90988250" "90988250" "subst" "0" "02330" "LIPA_000064" "g.90988250C>G" "" "" "" "LIPA(NM_001127605.3):c.230-95G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89228493C>G" "" "benign" "" "0000622458" "0" "50" "10" "91005486" "91005486" "subst" "0" "02330" "LIPA_000067" "g.91005486T>C" "" "" "" "LIPA(NM_000235.4):c.176A>G (p.Y59C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89245729T>C" "" "VUS" "" "0000622459" "0" "10" "10" "91007637" "91007640" "del" "0" "02330" "LIPA_000075" "g.91007637_91007640del" "" "" "" "LIPA(NM_000235.4):c.-1-201_-1-198delTAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89247880_89247883del" "" "benign" "" "0000622460" "0" "30" "10" "91007781" "91007781" "subst" "0" "02330" "LIPA_000076" "g.91007781C>G" "" "" "" "LIPA(NM_000235.4):c.-1-375G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89248024C>G" "" "likely benign" "" "0000656600" "0" "30" "10" "90974825" "90974825" "subst" "0" "02330" "LIPA_000077" "g.90974825T>C" "" "" "" "LIPA(NM_000235.4):c.967-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89215068T>C" "" "likely benign" "" "0000656601" "0" "50" "10" "90986662" "90986662" "subst" "1.21865E-5" "02330" "LIPA_000078" "g.90986662G>A" "" "" "" "LIPA(NM_000235.4):c.528C>T (p.G176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89226905G>A" "" "VUS" "" "0000656602" "0" "50" "10" "90988126" "90988126" "subst" "0" "02330" "LIPA_000079" "g.90988126C>T" "" "" "" "LIPA(NM_000235.4):c.259G>A (p.G87S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89228369C>T" "" "VUS" "" "0000678957" "0" "30" "10" "90983501" "90983501" "subst" "0" "02330" "LIPA_000080" "g.90983501C>G" "" "" "" "LIPA(NM_000235.4):c.762G>C (p.K254N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690827" "0" "10" "10" "90981876" "90981876" "subst" "0" "02330" "LIPA_000081" "g.90981876C>T" "" "" "" "LIPA(NM_000235.4):c.894+392G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690828" "0" "10" "10" "90981917" "90981917" "dup" "0" "02330" "LIPA_000082" "g.90981917dup" "" "" "" "LIPA(NM_000235.4):c.894+358dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690829" "0" "70" "10" "90982268" "90982268" "subst" "0.000914872" "01943" "LIPA_000008" "g.90982268C>T" "" "" "" "LIPA(NM_000235.3):c.894G>A (p.Q298=), LIPA(NM_000235.4):c.894G>A (p.Q298=, p.(Gln298=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690830" "0" "10" "10" "90984623" "90984623" "subst" "0" "02330" "LIPA_000083" "g.90984623A>G" "" "" "" "LIPA(NM_001127605.3):c.675+226T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690831" "0" "10" "10" "90985069" "90985081" "del" "0" "02330" "LIPA_000084" "g.90985069_90985081del" "" "" "" "LIPA(NM_001127605.3):c.539-95_539-83delTCCGCGAGAGGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690832" "0" "10" "10" "90987458" "90987458" "subst" "0" "02330" "LIPA_000085" "g.90987458C>T" "" "" "" "LIPA(NM_000235.4):c.428+499G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690833" "0" "10" "10" "90988410" "90988410" "subst" "0" "02330" "LIPA_000086" "g.90988410A>T" "" "" "" "LIPA(NM_000235.4):c.230-255T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690834" "0" "10" "10" "91007161" "91007168" "del" "0" "02330" "LIPA_000087" "g.91007161_91007168del" "" "" "" "LIPA(NM_000235.4):c.111+151_111+158delTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690835" "0" "10" "10" "91007637" "91007640" "dup" "0" "02330" "LIPA_000088" "g.91007637_91007640dup" "" "" "" "LIPA(NM_000235.4):c.-1-201_-1-198dupTAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000710898" "0" "90" "10" "90988045" "90988045" "subst" "0" "03696" "LIPA_000089" "g.90988045C>A" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.89228288C>A" "" "likely pathogenic (recessive)" "ACMG" "0000710899" "0" "90" "10" "90982268" "90982268" "subst" "0.000914872" "03696" "LIPA_000008" "g.90982268C>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.89222511C>T" "" "pathogenic (recessive)" "" "0000710901" "3" "90" "10" "90986762" "90986762" "subst" "0" "03696" "LIPA_000090" "g.90986762C>G" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89227005C>G" "" "pathogenic (recessive)" "ACMG" "0000712719" "0" "90" "10" "90988142" "90988153" "delins" "0" "03696" "LIPA_000091" "g.90988142_90988153delins[TGC;90988159_90988188]" "" "{PMID:Tebani 2021:33857477}" "" "232_243delinsGCTACTGCCTCCTAAACAATGAATGTTTTGCA" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000712722" "11" "70" "10" "90986651" "90986651" "subst" "0" "03696" "LIPA_000092" "g.90986651C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000712723" "0" "70" "10" "90986652" "90986652" "subst" "0" "03696" "LIPA_000093" "g.90986652C>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712724" "11" "70" "10" "90984923" "90984923" "subst" "0" "03696" "LIPA_000094" "g.90984923C>G" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712726" "11" "90" "10" "90984877" "90984877" "subst" "0" "03696" "LIPA_000095" "g.90984877A>C" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000723010" "0" "30" "10" "90974672" "90974672" "subst" "0.000730994" "02330" "LIPA_000096" "g.90974672T>C" "" "" "" "LIPA(NM_000235.3):c.1113A>G (p.E371=), LIPA(NM_000235.4):c.1113A>G (p.E371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723011" "0" "50" "10" "90974676" "90974676" "subst" "2.03069E-5" "02330" "LIPA_000097" "g.90974676G>A" "" "" "" "LIPA(NM_000235.4):c.1109C>T (p.P370L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723012" "0" "50" "10" "90974739" "90974739" "subst" "5.27962E-5" "02330" "LIPA_000098" "g.90974739T>C" "" "" "" "LIPA(NM_001127605.3):c.1046A>G (p.D349G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723013" "0" "90" "10" "90982268" "90982268" "subst" "0.000914872" "02329" "LIPA_000008" "g.90982268C>T" "" "" "" "LIPA(NM_000235.3):c.894G>A (p.Q298=), LIPA(NM_000235.4):c.894G>A (p.Q298=, p.(Gln298=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723014" "0" "30" "10" "90982295" "90982295" "subst" "0" "02330" "LIPA_000099" "g.90982295A>C" "" "" "" "LIPA(NM_000235.4):c.867T>G (p.S289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723015" "0" "30" "10" "90983507" "90983507" "subst" "0.000341789" "02330" "LIPA_000100" "g.90983507T>G" "" "" "" "LIPA(NM_000235.4):c.756A>C (p.I252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723016" "0" "50" "10" "90988006" "90988006" "subst" "4.46769E-5" "01943" "LIPA_000101" "g.90988006G>A" "" "" "" "LIPA(NM_000235.3):c.379C>T (p.R127W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723017" "0" "90" "10" "91007361" "91007361" "subst" "0" "02325" "LIPA_000072" "g.91007361C>T" "" "" "" "LIPA(NM_000235.4):c.45G>A (p.W15*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804622" "0" "30" "10" "90974672" "90974672" "subst" "0.000730994" "01943" "LIPA_000096" "g.90974672T>C" "" "" "" "LIPA(NM_000235.3):c.1113A>G (p.E371=), LIPA(NM_000235.4):c.1113A>G (p.E371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804623" "0" "30" "10" "90975207" "90975207" "subst" "0" "02330" "LIPA_000102" "g.90975207A>C" "" "" "" "LIPA(NM_000235.4):c.967-389T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804624" "0" "50" "10" "90984908" "90984908" "subst" "4.06164E-6" "02330" "LIPA_000103" "g.90984908C>T" "" "" "" "LIPA(NM_000235.4):c.616G>A (p.V206I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804625" "0" "50" "10" "90988066" "90988066" "subst" "0" "02330" "LIPA_000104" "g.90988066T>C" "" "" "" "LIPA(NM_000235.4):c.319A>G (p.I107V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804626" "0" "50" "10" "90988083" "90988083" "subst" "2.43744E-5" "02330" "LIPA_000105" "g.90988083T>C" "" "" "" "LIPA(NM_000235.4):c.302A>G (p.N101S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804627" "0" "50" "10" "90988128" "90988128" "subst" "0" "02330" "LIPA_000106" "g.90988128T>C" "" "" "" "LIPA(NM_001127605.3):c.257A>G (p.H86R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804628" "0" "30" "10" "91007160" "91007168" "del" "0" "02330" "LIPA_000107" "g.91007160_91007168del" "" "" "" "LIPA(NM_000235.4):c.111+150_111+158delTTTTTTTTT, LIPA(NM_001127605.3):c.111+150_111+158delTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804629" "0" "30" "10" "91007633" "91007640" "del" "0" "02330" "LIPA_000108" "g.91007633_91007640del" "" "" "" "LIPA(NM_000235.4):c.-1-205_-1-198delTAAATAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821925" "21" "90" "10" "90982268" "90982268" "subst" "0.000914872" "03696" "LIPA_000008" "g.90982268C>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000821926" "21" "90" "10" "90982268" "90982268" "subst" "0.000914872" "00006" "LIPA_000008" "g.90982268C>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000821927" "0" "90" "10" "90982268" "90982268" "subst" "0.000914872" "00006" "LIPA_000008" "g.90982268C>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000821928" "3" "90" "10" "90986762" "90986762" "subst" "0" "03696" "LIPA_000090" "g.90986762C>G" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89227005C>G" "" "pathogenic (recessive)" "ACMG" "0000821929" "0" "90" "10" "90982268" "90982268" "subst" "0.000914872" "00006" "LIPA_000008" "g.90982268C>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000821930" "21" "90" "10" "90982268" "90982268" "subst" "0.000914872" "00006" "LIPA_000008" "g.90982268C>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000821931" "3" "90" "10" "91005509" "91005509" "subst" "0" "00006" "LIPA_000114" "g.91005509G>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89245752G>T" "" "pathogenic (recessive)" "" "0000821932" "3" "70" "10" "90975695" "90975695" "subst" "4.06177E-6" "00006" "LIPA_000109" "g.90975695C>G" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89215938C>G" "" "likely pathogenic (recessive)" "" "0000821933" "3" "90" "10" "90983467" "90983467" "subst" "4.07734E-6" "00006" "LIPA_000110" "g.90983467C>A" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89223710C>A" "" "pathogenic (recessive)" "" "0000821934" "3" "90" "10" "90982268" "90982268" "subst" "0.000914872" "00006" "LIPA_000008" "g.90982268C>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89222511C>T" "" "pathogenic (recessive)" "" "0000821935" "1" "90" "10" "90987987" "90987987" "del" "2.03105E-5" "00006" "LIPA_000111" "g.90987987del" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89228230del" "" "pathogenic (recessive)" "" "0000821936" "3" "70" "10" "90988125" "90988125" "subst" "8.12605E-6" "00006" "LIPA_000112" "g.90988125C>A" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89228368C>A" "" "likely pathogenic (recessive)" "" "0000821937" "2" "90" "10" "90987987" "90987987" "del" "2.03105E-5" "00006" "LIPA_000111" "g.90987987del" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89228230del" "" "pathogenic (recessive)" "" "0000821938" "2" "90" "10" "91005469" "91005469" "subst" "2.03143E-5" "00006" "LIPA_000113" "g.91005469G>A" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89245712G>A" "" "pathogenic (recessive)" "" "0000821939" "2" "90" "10" "90987987" "90987987" "del" "2.03105E-5" "00006" "LIPA_000111" "g.90987987del" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89228230del" "" "pathogenic (recessive)" "" "0000821940" "2" "90" "10" "90982268" "90982268" "subst" "0.000914872" "00006" "LIPA_000008" "g.90982268C>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89222511C>T" "" "pathogenic (recessive)" "" "0000821941" "1" "90" "10" "90982268" "90982268" "subst" "0.000914872" "00006" "LIPA_000008" "g.90982268C>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89222511C>T" "" "pathogenic (recessive)" "" "0000821942" "1" "90" "10" "90982268" "90982268" "subst" "0.000914872" "00006" "LIPA_000008" "g.90982268C>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89222511C>T" "" "pathogenic (recessive)" "" "0000821943" "1" "90" "10" "90982268" "90982268" "subst" "0.000914872" "00006" "LIPA_000008" "g.90982268C>T" "" "{PMID:Tebani 2021:33857477}" "" "" "" "Germline" "" "" "0" "" "" "g.89222511C>T" "" "pathogenic (recessive)" "" "0000852626" "0" "50" "10" "90974652" "90974652" "subst" "4.06134E-6" "02330" "LIPA_000115" "g.90974652A>G" "" "" "" "LIPA(NM_000235.4):c.1133T>C (p.I378T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852627" "0" "30" "10" "90983519" "90983519" "subst" "2.44121E-5" "02330" "LIPA_000117" "g.90983519G>A" "" "" "" "LIPA(NM_000235.4):c.744C>T (p.C248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852628" "0" "50" "10" "90983550" "90983550" "subst" "8.13709E-6" "02330" "LIPA_000118" "g.90983550G>A" "" "" "" "LIPA(NM_001127605.3):c.713C>T (p.A238V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852629" "0" "30" "10" "90988013" "90988013" "subst" "4.4673E-5" "02330" "LIPA_000122" "g.90988013G>C" "" "" "" "LIPA(NM_000235.4):c.372C>G (p.T124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852630" "0" "30" "10" "91007394" "91007394" "subst" "2.03146E-5" "02330" "LIPA_000125" "g.91007394C>A" "" "" "" "LIPA(NM_000235.4):c.12G>T (p.R4=), LIPA(NM_001127605.3):c.12G>T (p.R4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852631" "0" "10" "10" "91007629" "91007640" "dup" "0" "02330" "LIPA_000126" "g.91007629_91007640dup" "" "" "" "LIPA(NM_000235.4):c.-1-209_-1-198dupTAAATAAATAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862072" "0" "30" "10" "90983414" "90983414" "dup" "0" "02330" "LIPA_000116" "g.90983414dup" "" "" "" "LIPA(NM_000235.4):c.822+37dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862073" "0" "30" "10" "90984867" "90984867" "subst" "4.46719E-5" "02330" "LIPA_000119" "g.90984867T>C" "" "" "" "LIPA(NM_000235.4):c.657A>G (p.L219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862074" "0" "50" "10" "90984872" "90984872" "subst" "8.12216E-6" "02330" "LIPA_000120" "g.90984872G>C" "" "" "" "LIPA(NM_000235.4):c.652C>G (p.R218G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862075" "0" "50" "10" "90986646" "90986646" "subst" "1.62516E-5" "02330" "LIPA_000121" "g.90986646A>G" "" "" "" "LIPA(NM_000235.4):c.538+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862076" "0" "30" "10" "91007158" "91007168" "del" "0" "02330" "LIPA_000123" "g.91007158_91007168del" "" "" "" "LIPA(NM_000235.4):c.111+148_111+158delTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862077" "0" "50" "10" "91007327" "91007327" "subst" "0" "02330" "LIPA_000124" "g.91007327T>C" "" "" "" "LIPA(NM_000235.4):c.79A>G (p.T27A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889313" "0" "50" "10" "90974619" "90974619" "subst" "0" "02330" "LIPA_000127" "g.90974619T>G" "" "" "" "LIPA(NM_001127605.3):c.1166A>C (p.N389T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889314" "0" "50" "10" "90974712" "90974712" "subst" "0" "02325" "LIPA_000128" "g.90974712G>C" "" "" "" "LIPA(NM_000235.4):c.1073C>G (p.T358S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889315" "0" "30" "10" "90982359" "90982359" "subst" "0" "02330" "LIPA_000129" "g.90982359A>G" "" "" "" "LIPA(NM_000235.4):c.823-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889316" "0" "50" "10" "90983456" "90983456" "subst" "2.04138E-5" "02330" "LIPA_000130" "g.90983456C>G" "" "" "" "LIPA(NM_000235.4):c.807G>C (p.E269D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889317" "0" "50" "10" "90983490" "90983490" "subst" "0" "02330" "LIPA_000131" "g.90983490C>T" "" "" "" "LIPA(NM_000235.4):c.773G>A (p.G258E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889318" "0" "50" "10" "90987991" "90987991" "subst" "8.12381E-6" "02330" "LIPA_000132" "g.90987991G>C" "" "" "" "LIPA(NM_000235.4):c.394C>G (p.L132V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889319" "0" "50" "10" "90988105" "90988105" "subst" "0" "02330" "LIPA_000133" "g.90988105T>A" "" "" "" "LIPA(NM_000235.4):c.280A>T (p.N94Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913370" "0" "70" "10" "90974715" "90974715" "subst" "4.06118E-5" "02330" "LIPA_000134" "g.90974715A>G" "" "" "" "LIPA(NM_000235.4):c.1070T>C (p.L357P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913371" "0" "50" "10" "90988005" "90988005" "subst" "0" "02330" "LIPA_000135" "g.90988005C>G" "" "" "" "LIPA(NM_001127605.3):c.380G>C (p.R127P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925222" "0" "50" "10" "90987974" "90987974" "subst" "0" "02330" "LIPA_000136" "g.90987974A>T" "" "" "" "LIPA(NM_001127605.3):c.411T>A (p.D137E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929725" "0" "90" "10" "90982268" "90982268" "subst" "0.000914872" "02327" "LIPA_000008" "g.90982268C>T" "" "" "" "LIPA(NM_000235.3):c.894G>A (p.Q298=), LIPA(NM_000235.4):c.894G>A (p.Q298=, p.(Gln298=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949470" "0" "50" "10" "90986750" "90986750" "subst" "4.06273E-6" "02330" "LIPA_000137" "g.90986750A>G" "" "" "" "LIPA(NM_001127605.3):c.440T>C (p.M147T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954275" "3" "70" "10" "90984906" "90984913" "del" "0" "00006" "LIPA_000138" "g.90984906_90984913del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.89225149_89225156del" "" "likely pathogenic" "ACMG" "0000979234" "0" "70" "10" "90982284" "90982285" "del" "0" "02330" "LIPA_000139" "g.90982284_90982285del" "" "" "" "LIPA(NM_001127605.3):c.877_878delAT (p.M293Vfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979235" "0" "30" "10" "90984991" "90984991" "subst" "0.000345658" "02330" "LIPA_000059" "g.90984991A>G" "" "" "" "LIPA(NM_000235.3):c.539-6T>C, LIPA(NM_001127605.3):c.539-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979236" "0" "50" "10" "90988039" "90988039" "subst" "0" "02330" "LIPA_000140" "g.90988039A>T" "" "" "" "LIPA(NM_001127605.3):c.346T>A (p.W116R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014691" "0" "50" "10" "90984977" "90984977" "subst" "4.06431E-6" "02330" "LIPA_000141" "g.90984977C>A" "" "" "" "LIPA(NM_001127605.3):c.547G>T (p.A183S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025798" "0" "30" "10" "90974729" "90974729" "subst" "0" "02330" "LIPA_000142" "g.90974729G>A" "" "" "" "LIPA(NM_001127605.3):c.1056C>T (p.D352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025799" "0" "30" "10" "90983427" "90983427" "subst" "1.23025E-5" "02330" "LIPA_000143" "g.90983427A>G" "" "" "" "LIPA(NM_001127605.3):c.822+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038096" "0" "30" "10" "90988109" "90988109" "subst" "0" "02330" "LIPA_000144" "g.90988109A>G" "" "" "" "LIPA(NM_001127605.3):c.276T>C (p.S92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046255" "0" "10" "10" "90985002" "90985002" "subst" "0.00138382" "02326" "LIPA_000013" "g.90985002C>T" "" "" "" "LIPA(NM_000235.4):c.539-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001053654" "0" "50" "10" "90974592" "90974592" "subst" "0" "01804" "LIPA_000145" "g.90974592T>C" "" "" "" "LIPA(NM_000235.4):c.1193A>G (p.(Tyr398Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058020" "21" "90" "10" "90982268" "90982268" "subst" "0.000914872" "00006" "LIPA_000008" "g.90982268C>T" "" "{PMID:Klima 1993:8254026}" "" "RNA 254-277del" "LAL activity in patient\'s fibroblasts 0.09" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0001058021" "11" "90" "10" "90983467" "90983467" "subst" "4.07734E-6" "00006" "LIPA_000110" "g.90983467C>A" "" "{PMID:Aslanidis 1996:8617513}" "" "Gly245*" "" "Germline" "" "" "0" "" "" "g.89223710C>A" "" "pathogenic (recessive)" "" "0001065314" "0" "90" "10" "90982268" "90982268" "subst" "0.000914872" "01804" "LIPA_000008" "g.90982268C>T" "" "" "" "LIPA(NM_000235.3):c.894G>A (p.Q298=), LIPA(NM_000235.4):c.894G>A (p.Q298=, p.(Gln298=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001065315" "0" "90" "10" "90982268" "90982268" "subst" "0.000914872" "02325" "LIPA_000008" "g.90982268C>T" "" "" "" "LIPA(NM_000235.3):c.894G>A (p.Q298=), LIPA(NM_000235.4):c.894G>A (p.Q298=, p.(Gln298=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 LIPA ## Count = 321 "{{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}}" "0000012865" "00025258" "00" "675" "62" "675" "62" "c.675+62A>C" "r.(=)" "p.(=)" "" "0000246956" "00025258" "90" "323" "0" "323" "0" "c.323T>A" "r.(?)" "p.(Leu108His)" "" "0000246956" "00026028" "90" "323" "0" "323" "0" "c.323T>A" "r.(?)" "p.(Leu108His)" "" "0000252473" "00025258" "90" "627" "0" "627" "0" "c.627T>A" "r.(?)" "p.(Cys209Ter)" "" "0000252473" "00026028" "90" "627" "0" "627" "0" "c.627T>A" "r.(?)" "p.(Cys209Ter)" "" "0000279093" "00025258" "50" "1009" "0" "1009" "0" "c.1009A>G" "r.(?)" "p.(Thr337Ala)" "" "0000279093" "00026028" "50" "1009" "0" "1009" "0" "c.1009A>G" "r.(?)" "p.(Thr337Ala)" "" "0000279094" "00025258" "10" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(Ser341=)" "" "0000279094" "00026028" "10" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(Ser341=)" "" "0000279095" "00025258" "30" "1108" "0" "1108" "0" "c.1108C>G" "r.(?)" "p.(Pro370Ala)" "" "0000279095" "00026028" "30" "1108" "0" "1108" "0" "c.1108C>G" "r.(?)" "p.(Pro370Ala)" "" "0000279096" "00025258" "30" "111" "20" "111" "20" "c.111+20G>A" "r.(=)" "p.(=)" "" "0000279096" "00026028" "30" "111" "20" "111" "20" "c.111+20G>A" "r.(=)" "p.(=)" "" "0000279097" "00025258" "10" "112" "-6" "112" "-6" "c.112-6C>T" "r.(=)" "p.(=)" "" "0000279097" "00026028" "10" "112" "-6" "112" "-6" "c.112-6C>T" "r.(=)" "p.(=)" "" "0000279098" "00025258" "30" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Ser38Asn)" "" "0000279098" "00026028" "30" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Ser38Asn)" "" "0000279099" "00025258" "10" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Lys76Arg)" "" "0000279099" "00026028" "10" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Lys76Arg)" "" "0000279100" "00025258" "70" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Gly105Ser)" "" "0000279100" "00026028" "70" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Gly105Ser)" "" "0000279101" "00025258" "50" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Gln)" "" "0000279101" "00026028" "50" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Gln)" "" "0000279102" "00025258" "10" "396" "0" "396" "0" "c.396C>G" "r.(?)" "p.(Leu132=)" "" "0000279102" "00026028" "10" "396" "0" "396" "0" "c.396C>G" "r.(?)" "p.(Leu132=)" "" "0000279103" "00025258" "30" "42" "0" "42" "0" "c.42C>G" "r.(?)" "p.(Leu14=)" "" "0000279103" "00026028" "30" "42" "0" "42" "0" "c.42C>G" "r.(?)" "p.(Leu14=)" "" "0000279104" "00025258" "10" "46" "0" "46" "0" "c.46A>C" "r.(?)" "p.(Thr16Pro)" "" "0000279104" "00026028" "10" "46" "0" "46" "0" "c.46A>C" "r.(?)" "p.(Thr16Pro)" "" "0000279105" "00025258" "10" "539" "-17" "539" "-17" "c.539-17G>A" "r.(=)" "p.(=)" "" "0000279105" "00026028" "10" "539" "-17" "539" "-17" "c.539-17G>A" "r.(=)" "p.(=)" "" "0000279106" "00025258" "10" "539" "-5" "539" "-5" "c.539-5C>T" "r.spl?" "p.?" "" "0000279106" "00026028" "10" "539" "-5" "539" "-5" "c.539-5C>T" "r.spl?" "p.?" "" "0000279107" "00025258" "30" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Asp221Gly)" "" "0000279107" "00026028" "30" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Asp221Gly)" "" "0000279108" "00025258" "10" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Gly23Arg)" "" "0000279108" "00026028" "10" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Gly23Arg)" "" "0000279109" "00025258" "10" "754" "0" "754" "0" "c.754A>T" "r.(?)" "p.(Ile252Leu)" "" "0000279109" "00026028" "10" "754" "0" "754" "0" "c.754A>T" "r.(?)" "p.(Ile252Leu)" "" "0000279110" "00025258" "10" "894" "7" "894" "7" "c.894+7A>G" "r.(=)" "p.(=)" "" "0000279110" "00026028" "10" "894" "7" "894" "7" "c.894+7A>G" "r.(=)" "p.(=)" "" "0000279111" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0000279111" "00026028" "90" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0000279112" "00025258" "50" "966" "3" "966" "3" "c.966+3A>T" "r.spl?" "p.?" "" "0000279112" "00026028" "50" "966" "3" "966" "3" "c.966+3A>T" "r.spl?" "p.?" "" "0000279113" "00025258" "70" "999" "0" "999" "0" "c.999G>A" "r.(?)" "p.(Met333Ile)" "" "0000279113" "00026028" "70" "999" "0" "999" "0" "c.999G>A" "r.(?)" "p.(Met333Ile)" "" "0000282218" "00025258" "10" "46" "0" "46" "0" "c.46A>C" "r.(?)" "p.(Thr16Pro)" "" "0000282218" "00026028" "10" "46" "0" "46" "0" "c.46A>C" "r.(?)" "p.(Thr16Pro)" "" "0000285984" "00025258" "70" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0000285984" "00026028" "70" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0000541500" "00025258" "90" "1155" "0" "1155" "0" "c.1155G>A" "r.(?)" "p.(Trp385Ter)" "" "0000541500" "00026028" "90" "1155" "0" "1155" "0" "c.1155G>A" "r.(?)" "p.(Trp385Ter)" "" "0000541501" "00025258" "30" "1089" "0" "1089" "0" "c.1089G>A" "r.(?)" "p.(Leu363=)" "" "0000541501" "00026028" "30" "1089" "0" "1089" "0" "c.1089G>A" "r.(?)" "p.(Leu363=)" "" "0000541502" "00025258" "50" "1033" "0" "1033" "0" "c.1033G>C" "r.(?)" "p.(Asp345His)" "" "0000541502" "00026028" "50" "1033" "0" "1033" "0" "c.1033G>C" "r.(?)" "p.(Asp345His)" "" "0000541503" "00025258" "30" "1008" "0" "1008" "0" "c.1008G>A" "r.(?)" "p.(Pro336=)" "" "0000541503" "00026028" "30" "1008" "0" "1008" "0" "c.1008G>A" "r.(?)" "p.(Pro336=)" "" "0000541504" "00025258" "10" "967" "-299" "967" "-299" "c.967-299G>C" "r.(=)" "p.(=)" "" "0000541504" "00026028" "10" "967" "-299" "967" "-299" "c.967-299G>C" "r.(=)" "p.(=)" "" "0000541505" "00025258" "10" "966" "46" "966" "46" "c.966+46C>T" "r.(=)" "p.(=)" "" "0000541505" "00026028" "10" "966" "46" "966" "46" "c.966+46C>T" "r.(=)" "p.(=)" "" "0000541506" "00025258" "50" "904" "0" "904" "0" "c.904T>G" "r.(?)" "p.(Phe302Val)" "" "0000541506" "00026028" "50" "904" "0" "904" "0" "c.904T>G" "r.(?)" "p.(Phe302Val)" "" "0000541507" "00025258" "50" "895" "-7" "895" "-7" "c.895-7T>C" "r.(=)" "p.(=)" "" "0000541507" "00026028" "50" "895" "-7" "895" "-7" "c.895-7T>C" "r.(=)" "p.(=)" "" "0000541508" "00025258" "10" "894" "187" "894" "187" "c.894+187T>C" "r.(=)" "p.(=)" "" "0000541508" "00026028" "10" "894" "187" "894" "187" "c.894+187T>C" "r.(=)" "p.(=)" "" "0000541509" "00025258" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Ser297=)" "" "0000541509" "00026028" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Ser297=)" "" "0000541510" "00025258" "30" "754" "0" "754" "0" "c.754A>T" "r.(?)" "p.(Ile252Leu)" "" "0000541510" "00026028" "30" "754" "0" "754" "0" "c.754A>T" "r.(?)" "p.(Ile252Leu)" "" "0000541511" "00025258" "30" "749" "0" "749" "0" "c.749A>C" "r.(?)" "p.(His250Pro)" "" "0000541511" "00026028" "30" "749" "0" "749" "0" "c.749A>C" "r.(?)" "p.(His250Pro)" "" "0000541512" "00025258" "30" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Gly244Ser)" "" "0000541512" "00026028" "30" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Gly244Ser)" "" "0000541513" "00025258" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Phe228Ser)" "" "0000541513" "00026028" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Phe228Ser)" "" "0000541514" "00025258" "50" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Phe228Ser)" "" "0000541514" "00026028" "50" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Phe228Ser)" "" "0000541515" "00025258" "30" "676" "-14" "676" "-14" "c.676-14T>C" "r.(=)" "p.(=)" "" "0000541515" "00026028" "30" "676" "-14" "676" "-14" "c.676-14T>C" "r.(=)" "p.(=)" "" "0000541516" "00025258" "30" "676" "-42" "676" "-42" "c.676-42G>A" "r.(=)" "p.(=)" "" "0000541516" "00026028" "30" "676" "-42" "676" "-42" "c.676-42G>A" "r.(=)" "p.(=)" "" "0000541517" "00025258" "30" "675" "62" "675" "62" "c.675+62A>C" "r.(=)" "p.(=)" "" "0000541517" "00026028" "30" "675" "62" "675" "62" "c.675+62A>C" "r.(=)" "p.(=)" "" "0000541518" "00025258" "30" "675" "11" "675" "11" "c.675+11C>A" "r.(=)" "p.(=)" "" "0000541518" "00026028" "30" "675" "11" "675" "11" "c.675+11C>A" "r.(=)" "p.(=)" "" "0000541519" "00025258" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Ser205=)" "" "0000541519" "00026028" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Ser205=)" "" "0000541520" "00025258" "70" "520" "0" "520" "0" "c.520T>C" "r.(?)" "p.(Ser174Pro)" "" "0000541520" "00026028" "70" "520" "0" "520" "0" "c.520T>C" "r.(?)" "p.(Ser174Pro)" "" "0000541521" "00025258" "30" "429" "-246" "429" "-246" "c.429-246A>G" "r.(=)" "p.(=)" "" "0000541521" "00026028" "30" "429" "-246" "429" "-246" "c.429-246A>G" "r.(=)" "p.(=)" "" "0000541522" "00025258" "30" "342" "0" "342" "0" "c.342C>T" "r.(?)" "p.(Asp114=)" "" "0000541522" "00026028" "30" "342" "0" "342" "0" "c.342C>T" "r.(?)" "p.(Asp114=)" "" "0000541523" "00025258" "50" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Trp44Leu)" "" "0000541523" "00026028" "50" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Trp44Leu)" "" "0000541524" "00025258" "70" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "" "0000541524" "00026028" "70" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Ile41Thr)" "" "0000541525" "00025258" "30" "112" "-9" "112" "-9" "c.112-9T>C" "r.(=)" "p.(=)" "" "0000541525" "00026028" "30" "112" "-9" "112" "-9" "c.112-9T>C" "r.(=)" "p.(=)" "" "0000541526" "00025258" "50" "30" "0" "30" "0" "c.30C>G" "r.(?)" "p.(Val10=)" "" "0000541526" "00026028" "50" "30" "0" "30" "0" "c.30C>G" "r.(?)" "p.(Val10=)" "" "0000541527" "00025258" "30" "-1" "-9" "-1" "-9" "c.-1-9A>G" "r.(=)" "p.(=)" "" "0000541527" "00026028" "30" "-1" "-9" "-1" "-9" "c.-1-9A>G" "r.(=)" "p.(=)" "" "0000541528" "00025258" "10" "-1" "-64" "-1" "-64" "c.-1-64G>T" "r.(=)" "p.(=)" "" "0000541528" "00026028" "10" "-1" "-64" "-1" "-64" "c.-1-64G>T" "r.(=)" "p.(=)" "" "0000612778" "00025258" "30" "966" "373" "966" "373" "c.966+373A>G" "r.(=)" "p.(=)" "" "0000612778" "00026028" "30" "966" "373" "966" "373" "c.966+373A>G" "r.(=)" "p.(=)" "" "0000612779" "00025258" "10" "895" "-403" "895" "-402" "c.895-403_895-402dup" "r.(=)" "p.(=)" "" "0000612779" "00026028" "10" "895" "-403" "895" "-402" "c.895-403_895-402dup" "r.(=)" "p.(=)" "" "0000612780" "00025258" "10" "894" "381" "894" "381" "c.894+381A>C" "r.(=)" "p.(=)" "" "0000612780" "00026028" "10" "894" "381" "894" "381" "c.894+381A>C" "r.(=)" "p.(=)" "" "0000612781" "00025258" "50" "889" "0" "889" "0" "c.889A>G" "r.(?)" "p.(Ser297Gly)" "" "0000612781" "00026028" "50" "889" "0" "889" "0" "c.889A>G" "r.(?)" "p.(Ser297Gly)" "" "0000612782" "00025258" "10" "822" "383" "822" "384" "c.822+383_822+384insAACTT" "r.(=)" "p.(=)" "" "0000612782" "00026028" "10" "822" "383" "822" "384" "c.822+383_822+384insAACTT" "r.(=)" "p.(=)" "" "0000612783" "00025258" "10" "822" "153" "822" "153" "c.822+153A>G" "r.(=)" "p.(=)" "" "0000612783" "00026028" "10" "822" "153" "822" "153" "c.822+153A>G" "r.(=)" "p.(=)" "" "0000612784" "00025258" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Ala238=)" "" "0000612784" "00026028" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Ala238=)" "" "0000612785" "00025258" "30" "539" "-6" "539" "-6" "c.539-6T>C" "r.(=)" "p.(=)" "" "0000612785" "00026028" "30" "539" "-6" "539" "-6" "c.539-6T>C" "r.(=)" "p.(=)" "" "0000612786" "00025258" "30" "429" "-97" "429" "-96" "c.429-97_429-96del" "r.(=)" "p.(=)" "" "0000612786" "00026028" "30" "429" "-97" "429" "-96" "c.429-97_429-96del" "r.(=)" "p.(=)" "" "0000612787" "00025258" "10" "428" "393" "428" "393" "c.428+393A>C" "r.(=)" "p.(=)" "" "0000612787" "00026028" "10" "428" "393" "428" "393" "c.428+393A>C" "r.(=)" "p.(=)" "" "0000612788" "00025258" "10" "230" "-375" "230" "-375" "c.230-375T>G" "r.(=)" "p.(=)" "" "0000612788" "00026028" "10" "230" "-375" "230" "-375" "c.230-375T>G" "r.(=)" "p.(=)" "" "0000612789" "00025258" "10" "229" "425" "229" "425" "c.229+425G>A" "r.(=)" "p.(=)" "" "0000612789" "00026028" "10" "229" "425" "229" "425" "c.229+425G>A" "r.(=)" "p.(=)" "" "0000612790" "00025258" "10" "112" "-163" "112" "-163" "c.112-163C>G" "r.(=)" "p.(=)" "" "0000612790" "00026028" "10" "112" "-163" "112" "-163" "c.112-163C>G" "r.(=)" "p.(=)" "" "0000612791" "00025258" "10" "112" "-304" "112" "-304" "c.112-304G>A" "r.(=)" "p.(=)" "" "0000612791" "00026028" "10" "112" "-304" "112" "-304" "c.112-304G>A" "r.(=)" "p.(=)" "" "0000612792" "00025258" "10" "112" "-402" "112" "-402" "c.112-402C>T" "r.(=)" "p.(=)" "" "0000612792" "00026028" "10" "112" "-402" "112" "-402" "c.112-402C>T" "r.(=)" "p.(=)" "" "0000612793" "00025258" "10" "111" "149" "111" "158" "c.111+149_111+158del" "r.(=)" "p.(=)" "" "0000612793" "00026028" "10" "111" "149" "111" "158" "c.111+149_111+158del" "r.(=)" "p.(=)" "" "0000612794" "00025258" "70" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15Ter)" "" "0000612794" "00026028" "70" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15Ter)" "" "0000612795" "00025258" "10" "-1" "-209" "-1" "-198" "c.-1-209_-1-198del" "r.(=)" "p.(=)" "" "0000612795" "00026028" "10" "-1" "-209" "-1" "-198" "c.-1-209_-1-198del" "r.(=)" "p.(=)" "" "0000612796" "00025258" "10" "-1" "-205" "-1" "-198" "c.-1-205_-1-198dup" "r.(=)" "p.(=)" "" "0000612796" "00026028" "10" "-1" "-205" "-1" "-198" "c.-1-205_-1-198dup" "r.(=)" "p.(=)" "" "0000622454" "00025258" "30" "895" "-420" "895" "-419" "c.895-420_895-419del" "r.(=)" "p.(=)" "" "0000622454" "00026028" "30" "895" "-420" "895" "-419" "c.895-420_895-419del" "r.(=)" "p.(=)" "" "0000622455" "00025258" "50" "511" "0" "511" "0" "c.511G>T" "r.(?)" "p.(Val171Leu)" "" "0000622455" "00026028" "50" "511" "0" "511" "0" "c.511G>T" "r.(?)" "p.(Val171Leu)" "" "0000622456" "00025258" "10" "429" "-422" "429" "-422" "c.429-422dup" "r.(=)" "p.(=)" "" "0000622456" "00026028" "10" "429" "-422" "429" "-422" "c.429-422dup" "r.(=)" "p.(=)" "" "0000622457" "00025258" "10" "230" "-95" "230" "-95" "c.230-95G>C" "r.(=)" "p.(=)" "" "0000622457" "00026028" "10" "230" "-95" "230" "-95" "c.230-95G>C" "r.(=)" "p.(=)" "" "0000622458" "00025258" "50" "176" "0" "176" "0" "c.176A>G" "r.(?)" "p.(Tyr59Cys)" "" "0000622458" "00026028" "50" "176" "0" "176" "0" "c.176A>G" "r.(?)" "p.(Tyr59Cys)" "" "0000622459" "00025258" "10" "-1" "-201" "-1" "-198" "c.-1-201_-1-198del" "r.(=)" "p.(=)" "" "0000622459" "00026028" "10" "-1" "-201" "-1" "-198" "c.-1-201_-1-198del" "r.(=)" "p.(=)" "" "0000622460" "00025258" "30" "-1" "-375" "-1" "-375" "c.-1-375G>C" "r.(=)" "p.(=)" "" "0000622460" "00026028" "30" "-1" "-375" "-1" "-375" "c.-1-375G>C" "r.(=)" "p.(=)" "" "0000656600" "00025258" "30" "967" "-7" "967" "-7" "c.967-7A>G" "r.(=)" "p.(=)" "" "0000656600" "00026028" "30" "967" "-7" "967" "-7" "c.967-7A>G" "r.(=)" "p.(=)" "" "0000656601" "00025258" "50" "528" "0" "528" "0" "c.528C>T" "r.(?)" "p.(Gly176=)" "" "0000656601" "00026028" "50" "528" "0" "528" "0" "c.528C>T" "r.(?)" "p.(Gly176=)" "" "0000656602" "00025258" "50" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Gly87Ser)" "" "0000656602" "00026028" "50" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Gly87Ser)" "" "0000678957" "00025258" "30" "762" "0" "762" "0" "c.762G>C" "r.(?)" "p.(Lys254Asn)" "" "0000678957" "00026028" "30" "762" "0" "762" "0" "c.762G>C" "r.(?)" "p.(Lys254Asn)" "" "0000690827" "00025258" "10" "894" "392" "894" "392" "c.894+392G>A" "r.(=)" "p.(=)" "" "0000690827" "00026028" "10" "894" "392" "894" "392" "c.894+392G>A" "r.(=)" "p.(=)" "" "0000690828" "00025258" "10" "894" "358" "894" "358" "c.894+358dup" "r.(=)" "p.(=)" "" "0000690828" "00026028" "10" "894" "358" "894" "358" "c.894+358dup" "r.(=)" "p.(=)" "" "0000690829" "00025258" "70" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0000690829" "00026028" "70" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0000690830" "00025258" "10" "675" "226" "675" "226" "c.675+226T>C" "r.(=)" "p.(=)" "" "0000690830" "00026028" "10" "675" "226" "675" "226" "c.675+226T>C" "r.(=)" "p.(=)" "" "0000690831" "00025258" "10" "539" "-95" "539" "-83" "c.539-95_539-83del" "r.(=)" "p.(=)" "" "0000690831" "00026028" "10" "539" "-95" "539" "-83" "c.539-95_539-83del" "r.(=)" "p.(=)" "" "0000690832" "00025258" "10" "428" "499" "428" "499" "c.428+499G>A" "r.(=)" "p.(=)" "" "0000690832" "00026028" "10" "428" "499" "428" "499" "c.428+499G>A" "r.(=)" "p.(=)" "" "0000690833" "00025258" "10" "230" "-255" "230" "-255" "c.230-255T>A" "r.(=)" "p.(=)" "" "0000690833" "00026028" "10" "230" "-255" "230" "-255" "c.230-255T>A" "r.(=)" "p.(=)" "" "0000690834" "00025258" "10" "111" "151" "111" "158" "c.111+151_111+158del" "r.(=)" "p.(=)" "" "0000690834" "00026028" "10" "111" "151" "111" "158" "c.111+151_111+158del" "r.(=)" "p.(=)" "" "0000690835" "00025258" "10" "-1" "-201" "-1" "-198" "c.-1-201_-1-198dup" "r.(=)" "p.(=)" "" "0000690835" "00026028" "10" "-1" "-201" "-1" "-198" "c.-1-201_-1-198dup" "r.(=)" "p.(=)" "" "0000710898" "00025258" "90" "340" "0" "340" "0" "c.340G>T" "r.(?)" "p.(Asp114Tyr)" "" "0000710899" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.spl" "p.?" "" "0000710901" "00025258" "90" "429" "-1" "429" "-1" "c.429-1G>C" "r.spl" "p.?" "" "0000712719" "00025258" "90" "232" "0" "243" "0" "c.232_243delins[230-33_230-4;GCA]" "r.(?)" "p.(Pro78Alafs*5)" "4" "0000712722" "00025258" "70" "538" "1" "538" "1" "c.538+1G>A" "r.spl" "p.?" "5i" "0000712723" "00025258" "70" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Ser)" "5" "0000712724" "00025258" "70" "601" "0" "601" "0" "c.601G>C" "r.(?)" "p.(Gly201Arg)" "6" "0000712726" "00025258" "90" "647" "0" "647" "0" "c.647T>G" "r.(?)" "p.(Leu216*)" "6" "0000723010" "00025258" "30" "1113" "0" "1113" "0" "c.1113A>G" "r.(?)" "p.(Glu371=)" "" "0000723010" "00026028" "30" "1113" "0" "1113" "0" "c.1113A>G" "r.(?)" "p.(Glu371=)" "" "0000723011" "00025258" "50" "1109" "0" "1109" "0" "c.1109C>T" "r.(?)" "p.(Pro370Leu)" "" "0000723011" "00026028" "50" "1109" "0" "1109" "0" "c.1109C>T" "r.(?)" "p.(Pro370Leu)" "" "0000723012" "00025258" "50" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Asp349Gly)" "" "0000723012" "00026028" "50" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Asp349Gly)" "" "0000723013" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0000723013" "00026028" "90" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0000723014" "00025258" "30" "867" "0" "867" "0" "c.867T>G" "r.(?)" "p.(Ser289=)" "" "0000723014" "00026028" "30" "867" "0" "867" "0" "c.867T>G" "r.(?)" "p.(Ser289=)" "" "0000723015" "00025258" "30" "756" "0" "756" "0" "c.756A>C" "r.(?)" "p.(Ile252=)" "" "0000723015" "00026028" "30" "756" "0" "756" "0" "c.756A>C" "r.(?)" "p.(Ile252=)" "" "0000723016" "00025258" "50" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000723016" "00026028" "50" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000723017" "00025258" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15Ter)" "" "0000723017" "00026028" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15Ter)" "" "0000804622" "00025258" "30" "1113" "0" "1113" "0" "c.1113A>G" "r.(?)" "p.(Glu371=)" "" "0000804622" "00026028" "30" "1113" "0" "1113" "0" "c.1113A>G" "r.(?)" "p.(Glu371=)" "" "0000804623" "00025258" "30" "967" "-389" "967" "-389" "c.967-389T>G" "r.(=)" "p.(=)" "" "0000804623" "00026028" "30" "967" "-389" "967" "-389" "c.967-389T>G" "r.(=)" "p.(=)" "" "0000804624" "00025258" "50" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Val206Ile)" "" "0000804624" "00026028" "50" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Val206Ile)" "" "0000804625" "00025258" "50" "319" "0" "319" "0" "c.319A>G" "r.(?)" "p.(Ile107Val)" "" "0000804625" "00026028" "50" "319" "0" "319" "0" "c.319A>G" "r.(?)" "p.(Ile107Val)" "" "0000804626" "00025258" "50" "302" "0" "302" "0" "c.302A>G" "r.(?)" "p.(Asn101Ser)" "" "0000804626" "00026028" "50" "302" "0" "302" "0" "c.302A>G" "r.(?)" "p.(Asn101Ser)" "" "0000804627" "00025258" "50" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(His86Arg)" "" "0000804627" "00026028" "50" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(His86Arg)" "" "0000804628" "00025258" "30" "111" "150" "111" "158" "c.111+150_111+158del" "r.(=)" "p.(=)" "" "0000804628" "00026028" "30" "111" "150" "111" "158" "c.111+150_111+158del" "r.(=)" "p.(=)" "" "0000804629" "00025258" "30" "-1" "-205" "-1" "-198" "c.-1-205_-1-198del" "r.(=)" "p.(=)" "" "0000804629" "00026028" "30" "-1" "-205" "-1" "-198" "c.-1-205_-1-198del" "r.(=)" "p.(=)" "" "0000821925" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.spl" "p.?" "" "0000821926" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.spl" "p.?" "" "0000821927" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.spl" "p.?" "" "0000821928" "00025258" "90" "429" "-1" "429" "-1" "c.429-1G>C" "r.spl" "p.?" "" "0000821929" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.spl" "p.?" "" "0000821930" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.spl" "p.?" "" "0000821931" "00025258" "90" "153" "0" "153" "0" "c.153C>A" "r.(?)" "p.(Tyr51*)" "" "0000821932" "00025258" "70" "966" "0" "966" "0" "c.966G>C" "r.(?)" "p.(Gln322His)" "" "0000821933" "00025258" "90" "796" "0" "796" "0" "c.796G>T" "r.(?)" "p.(Gly266*)" "" "0000821934" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.spl" "p.?" "" "0000821935" "00025258" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Ser133*)" "" "0000821936" "00025258" "70" "260" "0" "260" "0" "c.260G>T" "r.(?)" "p.(Gly87Val)" "" "0000821937" "00025258" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Ser133*)" "" "0000821938" "00025258" "90" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Arg65*)" "" "0000821939" "00025258" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Ser133*)" "" "0000821940" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.spl" "p.?" "" "0000821941" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.spl" "p.?" "" "0000821942" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.spl" "p.?" "" "0000821943" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.spl" "p.?" "" "0000852626" "00025258" "50" "1133" "0" "1133" "0" "c.1133T>C" "r.(?)" "p.(Ile378Thr)" "" "0000852626" "00026028" "50" "1133" "0" "1133" "0" "c.1133T>C" "r.(?)" "p.(Ile378Thr)" "" "0000852627" "00025258" "30" "744" "0" "744" "0" "c.744C>T" "r.(?)" "p.(Cys248=)" "" "0000852627" "00026028" "30" "744" "0" "744" "0" "c.744C>T" "r.(?)" "p.(Cys248=)" "" "0000852628" "00025258" "50" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Ala238Val)" "" "0000852628" "00026028" "50" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Ala238Val)" "" "0000852629" "00025258" "30" "372" "0" "372" "0" "c.372C>G" "r.(?)" "p.(Thr124=)" "" "0000852629" "00026028" "30" "372" "0" "372" "0" "c.372C>G" "r.(?)" "p.(Thr124=)" "" "0000852630" "00025258" "30" "12" "0" "12" "0" "c.12G>T" "r.(?)" "p.(Arg4=)" "" "0000852630" "00026028" "30" "12" "0" "12" "0" "c.12G>T" "r.(?)" "p.(Arg4=)" "" "0000852631" "00025258" "10" "-1" "-209" "-1" "-198" "c.-1-209_-1-198dup" "r.(=)" "p.(=)" "" "0000852631" "00026028" "10" "-1" "-209" "-1" "-198" "c.-1-209_-1-198dup" "r.(=)" "p.(=)" "" "0000862072" "00025258" "30" "822" "37" "822" "37" "c.822+37dup" "r.(=)" "p.(=)" "" "0000862072" "00026028" "30" "822" "37" "822" "37" "c.822+37dup" "r.(=)" "p.(=)" "" "0000862073" "00025258" "30" "657" "0" "657" "0" "c.657A>G" "r.(?)" "p.(Leu219=)" "" "0000862073" "00026028" "30" "657" "0" "657" "0" "c.657A>G" "r.(?)" "p.(Leu219=)" "" "0000862074" "00025258" "50" "652" "0" "652" "0" "c.652C>G" "r.(?)" "p.(Arg218Gly)" "" "0000862074" "00026028" "50" "652" "0" "652" "0" "c.652C>G" "r.(?)" "p.(Arg218Gly)" "" "0000862075" "00025258" "50" "538" "6" "538" "6" "c.538+6T>C" "r.(=)" "p.(=)" "" "0000862075" "00026028" "50" "538" "6" "538" "6" "c.538+6T>C" "r.(=)" "p.(=)" "" "0000862076" "00025258" "30" "111" "148" "111" "158" "c.111+148_111+158del" "r.(=)" "p.(=)" "" "0000862076" "00026028" "30" "111" "148" "111" "158" "c.111+148_111+158del" "r.(=)" "p.(=)" "" "0000862077" "00025258" "50" "79" "0" "79" "0" "c.79A>G" "r.(?)" "p.(Thr27Ala)" "" "0000862077" "00026028" "50" "79" "0" "79" "0" "c.79A>G" "r.(?)" "p.(Thr27Ala)" "" "0000889313" "00025258" "50" "1166" "0" "1166" "0" "c.1166A>C" "r.(?)" "p.(Asn389Thr)" "" "0000889313" "00026028" "50" "1166" "0" "1166" "0" "c.1166A>C" "r.(?)" "p.(Asn389Thr)" "" "0000889314" "00025258" "50" "1073" "0" "1073" "0" "c.1073C>G" "r.(?)" "p.(Thr358Ser)" "" "0000889314" "00026028" "50" "1073" "0" "1073" "0" "c.1073C>G" "r.(?)" "p.(Thr358Ser)" "" "0000889315" "00025258" "30" "823" "-20" "823" "-20" "c.823-20T>C" "r.(=)" "p.(=)" "" "0000889315" "00026028" "30" "823" "-20" "823" "-20" "c.823-20T>C" "r.(=)" "p.(=)" "" "0000889316" "00025258" "50" "807" "0" "807" "0" "c.807G>C" "r.(?)" "p.(Glu269Asp)" "" "0000889316" "00026028" "50" "807" "0" "807" "0" "c.807G>C" "r.(?)" "p.(Glu269Asp)" "" "0000889317" "00025258" "50" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Gly258Glu)" "" "0000889317" "00026028" "50" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Gly258Glu)" "" "0000889318" "00025258" "50" "394" "0" "394" "0" "c.394C>G" "r.(?)" "p.(Leu132Val)" "" "0000889318" "00026028" "50" "394" "0" "394" "0" "c.394C>G" "r.(?)" "p.(Leu132Val)" "" "0000889319" "00025258" "50" "280" "0" "280" "0" "c.280A>T" "r.(?)" "p.(Asn94Tyr)" "" "0000889319" "00026028" "50" "280" "0" "280" "0" "c.280A>T" "r.(?)" "p.(Asn94Tyr)" "" "0000913370" "00025258" "70" "1070" "0" "1070" "0" "c.1070T>C" "r.(?)" "p.(Leu357Pro)" "" "0000913370" "00026028" "70" "1070" "0" "1070" "0" "c.1070T>C" "r.(?)" "p.(Leu357Pro)" "" "0000913371" "00025258" "50" "380" "0" "380" "0" "c.380G>C" "r.(?)" "p.(Arg127Pro)" "" "0000913371" "00026028" "50" "380" "0" "380" "0" "c.380G>C" "r.(?)" "p.(Arg127Pro)" "" "0000925222" "00025258" "50" "411" "0" "411" "0" "c.411T>A" "r.(?)" "p.(Asp137Glu)" "" "0000925222" "00026028" "50" "411" "0" "411" "0" "c.411T>A" "r.(?)" "p.(Asp137Glu)" "" "0000929725" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0000929725" "00026028" "90" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0000949470" "00025258" "50" "440" "0" "440" "0" "c.440T>C" "r.(?)" "p.(Met147Thr)" "" "0000949470" "00026028" "50" "440" "0" "440" "0" "c.440T>C" "r.(?)" "p.(Met147Thr)" "" "0000954275" "00025258" "70" "611" "0" "618" "0" "c.611_618del" "r.(?)" "p.(Ala204GlyfsTer5)" "" "0000979234" "00025258" "70" "877" "0" "878" "0" "c.877_878del" "r.(?)" "p.(Met293Valfs*8)" "" "0000979234" "00026028" "70" "877" "0" "878" "0" "c.877_878del" "r.(?)" "p.(Met293Valfs*8)" "" "0000979235" "00025258" "30" "539" "-6" "539" "-6" "c.539-6T>C" "r.(=)" "p.(=)" "" "0000979235" "00026028" "30" "539" "-6" "539" "-6" "c.539-6T>C" "r.(=)" "p.(=)" "" "0000979236" "00025258" "50" "346" "0" "346" "0" "c.346T>A" "r.(?)" "p.(Trp116Arg)" "" "0000979236" "00026028" "50" "346" "0" "346" "0" "c.346T>A" "r.(?)" "p.(Trp116Arg)" "" "0001014691" "00025258" "50" "547" "0" "547" "0" "c.547G>T" "r.(?)" "p.(Ala183Ser)" "" "0001014691" "00026028" "50" "547" "0" "547" "0" "c.547G>T" "r.(?)" "p.(Ala183Ser)" "" "0001025798" "00025258" "30" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(=)" "" "0001025798" "00026028" "30" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(=)" "" "0001025799" "00025258" "30" "822" "14" "822" "14" "c.822+14T>C" "r.(=)" "p.(=)" "" "0001025799" "00026028" "30" "822" "14" "822" "14" "c.822+14T>C" "r.(=)" "p.(=)" "" "0001038096" "00025258" "30" "276" "0" "276" "0" "c.276T>C" "r.(?)" "p.(=)" "" "0001038096" "00026028" "30" "276" "0" "276" "0" "c.276T>C" "r.(?)" "p.(=)" "" "0001046255" "00025258" "10" "539" "-17" "539" "-17" "c.539-17G>A" "r.(=)" "p.(=)" "" "0001046255" "00026028" "10" "539" "-17" "539" "-17" "c.539-17G>A" "r.(=)" "p.(=)" "" "0001053654" "00025258" "50" "1193" "0" "1193" "0" "c.1193A>G" "r.(?)" "p.(Tyr398Cys)" "" "0001053654" "00026028" "50" "1193" "0" "1193" "0" "c.1193A>G" "r.(?)" "p.(Tyr398Cys)" "" "0001058020" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.823_894del" "p.Ser275_Gln298del" "" "0001058020" "00026028" "90" "894" "0" "894" "0" "c.894G>A" "r.823_894del" "p.Ser275_Gln298del" "" "0001058021" "00025258" "90" "796" "0" "796" "0" "c.796G>T" "r.796G>T" "p.Gly266Ter" "" "0001058021" "00026028" "90" "796" "0" "796" "0" "c.796G>T" "r.796G>T" "p.(Gly266Ter)" "" "0001065314" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0001065314" "00026028" "90" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0001065315" "00025258" "90" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" "0001065315" "00026028" "90" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Gln298=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012865" "0000327211" "0000710898" "0000327211" "0000710899" "0000327213" "0000710901" "0000328703" "0000712719" "0000328703" "0000821929" "0000328706" "0000712722" "0000328706" "0000821930" "0000328707" "0000712723" "0000328707" "0000821927" "0000328709" "0000712724" "0000328709" "0000821926" "0000328710" "0000712726" "0000328710" "0000821925" "0000391868" "0000821928" "0000391869" "0000821931" "0000391870" "0000821932" "0000391871" "0000821933" "0000391872" "0000821934" "0000391873" "0000821935" "0000391873" "0000821940" "0000391874" "0000821936" "0000391875" "0000821937" "0000391875" "0000821941" "0000391876" "0000821938" "0000391876" "0000821942" "0000391877" "0000821939" "0000391877" "0000821943" "0000446065" "0000954275" "0000469943" "0001058020" "0000469943" "0001058021"