### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LPL) # 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}}" "LPL" "lipoprotein lipase" "8" "p21.3" "unknown" "NC_000008.10" "UD_145628547927" "" "https://www.LOVD.nl/LPL" "" "1" "6677" "4023" "609708" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2023-05-02 16:40:15" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024762" "LPL" "lipoprotein lipase" "001" "NM_000237.2" "" "NP_000228.1" "" "" "" "-370" "3377" "1428" "19796582" "19824770" "00000" "2017-08-08 15:24:36" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00130" "PCTT" "pancreatitis" "AD" "167800" "" "" "" "00006" "2013-05-14 09:29:20" "00006" "2025-09-05 16:49:18" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01380" "FCHL3" "hyperlipidemia, combined, familial" "AD" "144250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-05-02 16:34:24" "01854" "HL1" "hyperlipoproteinemia, type I (lipoprotein lipase deficiency)" "AR" "238600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-05-02 16:37:37" "06989" "cleft" "cleft lip with/without cleft palate" "" "" "" "" "" "00006" "2022-12-23 13:40:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "LPL" "01380" "LPL" "01854" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00230580" "" "" "" "2" "" "02347" "" "" "M" "" "India" "" "0" "" "" "" "S-4409" "00230581" "" "" "" "1" "" "02347" "" "" "M" "" "India" "" "0" "" "" "" "S-6775" "00264097" "" "" "" "1" "" "03420" "" "" "F" "?" "China" "30y-40y" "0" "" "" "China" "" "00294609" "" "" "" "67" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294610" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294611" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294612" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294613" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296386" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00305189" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00408363" "" "" "" "1" "" "04297" "" "" "M" "yes" "Oman" "" "" "" "" "Arab" "AA1" "00408402" "" "" "" "1" "" "04297" "" "" "M" "yes" "Oman" "" "" "" "" "Arab" "CC1" "00408403" "" "" "" "1" "cc_by_4.0;1" "04297" "" "" "M" "yes" "Oman" "" "" "" "" "Arab" "EE2" "00408404" "" "" "" "1" "cc_by_4.0;1" "04297" "" "" "M" "yes" "Oman" "" "" "" "" "" "FF1" "00410309" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "0" "" "" "" "LPL_P1" "00410310" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "0" "" "" "" "LPL_P10" "00410311" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "0" "" "" "" "LPL_P12" "00410312" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "0" "" "" "" "LPL_P13" "00410313" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "0" "" "" "" "LPL_P14" "00410314" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "0" "" "" "" "LPL_P15" "00428171" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "LPL-Pat1" "00428172" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "LPL-Pat2" "00428173" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "LPL-Pat3" "00428174" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "LPL-Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00230580" "01854" "00230581" "01854" "00264097" "00130" "00294609" "00198" "00294610" "00198" "00294611" "00198" "00294612" "00198" "00294613" "00198" "00296386" "00198" "00305189" "00198" "00408363" "01854" "00408402" "01854" "00408403" "01854" "00408404" "01854" "00410309" "01854" "00410310" "01854" "00410311" "01854" "00410312" "01854" "00410313" "01854" "00410314" "01854" "00428171" "06989" "00428172" "06989" "00428173" "06989" "00428174" "06989" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00130, 00198, 01380, 01854, 06989 ## Count = 17 "{{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}}" "0000173139" "01854" "00230580" "02347" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "lipoprotein lipase deficiency" "" "0000173140" "01854" "00230581" "02347" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "lipoprotein lipase deficiency" "" "0000223800" "00198" "00296386" "01164" "Unknown" "" "Hypertriglyceridemia (HP:0002155); Recurrent pancreatitis (HP:0100027)" "" "" "" "" "" "" "" "" "" "" "" "0000300489" "01854" "00408363" "04297" "Familial, autosomal recessive" "" "recurrent pancreatitis" "" "" "" "" "" "" "" "" "" "" "" "0000300518" "01854" "00408402" "04297" "Familial, autosomal recessive" "" "recurrent pancreatitis\r\nSever Hypertriglyceridemia" "" "" "" "fahadz" "" "" "" "" "" "" "" "0000300519" "01854" "00408403" "04297" "Familial, autosomal recessive" "" "Severe hypetriglyceridemia\r\nrecurrent pancreatitis" "" "" "" "" "" "" "" "" "" "" "" "0000300520" "01854" "00408404" "04297" "Familial, autosomal recessive" "" "Severe hypertriglyceridemia\r\nrecurrent pancreatitis" "" "" "" "" "" "" "" "" "" "" "" "0000302414" "01854" "00410309" "01864" "Familial, autosomal recessive" "" "" "00y01m" "00y04m" "Hyperchylomicronemia(0012238)" "" "" "" "" "" "" "" "" "0000302415" "01854" "00410310" "01864" "Familial, autosomal recessive" "" "" "00y03m" "00y04m" "Hypertriglyceridemia(0002155)" "" "" "" "" "" "" "" "" "0000302416" "01854" "00410311" "01864" "Familial, autosomal recessive" "" "" "00y02m" "02y04m" "Hypertriglyceridemia(0002155)" "" "" "" "" "" "" "" "" "0000302417" "01854" "00410312" "01864" "Familial, autosomal recessive" "" "" "07y03m" "07y06m" "Hypertriglyceridemia(0002155)" "" "" "" "" "" "" "" "" "0000302418" "01854" "00410313" "01864" "Familial, autosomal recessive" "" "" "00y01m" "00y02m" "Hyperchylomicronemia(0012238)" "" "" "" "" "" "" "" "" "0000302419" "01854" "00410314" "01864" "Familial, autosomal recessive" "" "" "00y04m" "00y07m" "Hyperchylomicronemia(0012238)" "" "" "" "" "" "" "" "" "0000319089" "06989" "00428171" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "right-sided non-syndromic cleft lip" "" "0000319090" "06989" "00428172" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "right-sided non-syndromic cleft lip" "" "0000319091" "06989" "00428173" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bilateral non-syndromic cleft lip and palate" "" "0000319092" "06989" "00428174" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "right-sided non-syndromic cleft lip" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000231673" "00230580" "1" "02347" "02347" "2019-04-15 11:11:54" "" "" "SEQ-NG" "DNA" "" "" "0000231674" "00230581" "1" "02347" "02347" "2019-04-15 11:34:16" "" "" "SEQ-NG" "DNA" "" "" "0000265219" "00264097" "1" "03420" "03420" "2019-09-11 07:56:32" "" "" "?" "DNA" "blood" "" "0000295777" "00294609" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295778" "00294610" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295779" "00294611" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295780" "00294612" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295781" "00294613" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297497" "00296386" "1" "01164" "01164" "2020-04-06 09:47:51" "" "" "SEQ-NG-S" "DNA" "" "" "0000306318" "00305189" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000409620" "00408363" "1" "04297" "04297" "2022-04-20 18:46:28" "00006" "2022-04-25 16:14:54" "SEQ-NG-IT" "DNA" "" "" "0000409659" "00408402" "1" "04297" "04297" "2022-04-21 06:12:32" "00006" "2022-04-25 16:18:51" "SEQ-NG-I" "DNA" "" "" "0000409660" "00408403" "1" "04297" "04297" "2022-04-21 06:23:03" "00006" "2022-04-25 16:16:14" "SEQ-NG-IT" "DNA" "" "" "0000409661" "00408404" "1" "04297" "04297" "2022-04-21 06:30:43" "" "" "SEQ-NG-IT" "DNA" "" "" "0000411573" "00410309" "1" "01864" "01864" "2022-05-24 05:48:00" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000411574" "00410310" "1" "01864" "01864" "2022-05-24 06:30:31" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000411575" "00410311" "1" "01864" "01864" "2022-05-24 06:52:13" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000411576" "00410312" "1" "01864" "01864" "2022-05-24 06:56:32" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000411577" "00410313" "1" "01864" "01864" "2022-05-24 06:59:32" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000411578" "00410314" "1" "01864" "01864" "2022-05-24 07:54:15" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000429582" "00428171" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429583" "00428172" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429584" "00428173" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429585" "00428174" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000231673" "LPL" "0000231674" "LPL" "0000265219" "LPL" "0000409661" "LPL" "0000411573" "LPL" "0000411574" "LPL" "0000411575" "LPL" "0000411576" "LPL" "0000411577" "LPL" "0000411578" "LPL" ## 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 = 390 "{{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}}" "0000246693" "0" "10" "8" "19809375" "19809375" "subst" "0.000649783" "02330" "LPL_000020" "g.19809375A>C" "" "" "" "LPL(NM_000237.3):c.345A>C (p.S115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19951864A>C" "" "benign" "" "0000246694" "0" "10" "8" "19811767" "19811767" "subst" "0.00221729" "02330" "LPL_000053" "g.19811767A>G" "" "" "" "LPL(NM_000237.3):c.678A>G (p.P226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19954256A>G" "" "benign" "" "0000246748" "0" "30" "8" "19809479" "19809479" "subst" "0.00354616" "02330" "LPL_000040" "g.19809479A>C" "" "" "" "LPL(NM_000237.3):c.429+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19951968A>C" "" "likely benign" "" "0000246749" "0" "30" "8" "19811234" "19811234" "del" "0" "02330" "LPL_000047" "g.19811234del" "" "" "" "LPL(NM_000237.3):c.541+302delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19953723del" "" "likely benign" "" "0000246750" "0" "30" "8" "19813299" "19813299" "subst" "0" "02330" "LPL_000021" "g.19813299A>G" "" "" "" "LPL(NM_000237.3):c.776-53A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19955788A>G" "" "likely benign" "" "0000246751" "0" "30" "8" "19819737" "19819737" "subst" "0" "02330" "LPL_000035" "g.19819737A>C" "" "" "" "LPL(NM_000237.3):c.1427+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19962226A>C" "" "likely benign" "" "0000246767" "0" "30" "8" "19819714" "19819714" "subst" "0" "02330" "LPL_000066" "g.19819714A>C" "" "" "" "LPL(NM_000237.3):c.1411A>C (p.N471H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19962203A>C" "" "likely benign" "" "0000246769" "0" "30" "8" "19816887" "19816887" "subst" "0.000756257" "02330" "LPL_000022" "g.19816887A>G" "" "" "" "LPL(NM_000237.3):c.1135A>G (p.T379A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19959376A>G" "" "likely benign" "" "0000279403" "0" "10" "8" "19796845" "19796845" "subst" "0" "02330" "LPL_000003" "g.19796845G>A" "" "" "" "LPL(NM_000237.3):c.-107G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19939334G>A" "" "benign" "" "0000279404" "0" "30" "8" "19796938" "19796938" "subst" "0" "02330" "LPL_000004" "g.19796938G>A" "" "" "" "LPL(NM_000237.3):c.-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19939427G>A" "" "likely benign" "" "0000279406" "0" "30" "8" "19796671" "19796671" "subst" "0" "02330" "LPL_000001" "g.19796671T>G" "" "" "" "LPL(NM_000237.3):c.-281T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19939160T>G" "" "likely benign" "" "0000279407" "0" "30" "8" "19822810" "19822810" "subst" "0.0952412" "02330" "LPL_000037" "g.19822810C>T" "" "" "" "LPL(NM_000237.3):c.1428-11C>T, LPL(NM_000237.3):c.1428-11_1428-10delCTinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19965299C>T" "" "likely benign" "" "0000279408" "0" "30" "8" "19822805" "19822816" "del" "0" "02330" "LPL_000036" "g.19822805_19822816del" "" "" "" "LPL(NM_000237.3):c.1428-16_1428-5delCTGTGCTTTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19965294_19965305del" "" "likely benign" "" "0000279409" "0" "10" "8" "19822830" "19822830" "subst" "0.145869" "02330" "LPL_000038" "g.19822830G>A" "" "" "" "LPL(NM_000237.3):c.*9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19965319G>A" "" "benign" "" "0000279410" "0" "10" "8" "19813610" "19813610" "subst" "0.00327957" "02330" "LPL_000059" "g.19813610T>C" "" "" "" "LPL(NM_000237.3):c.1018+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19956099T>C" "" "benign" "" "0000279411" "0" "30" "8" "19813667" "19813667" "subst" "0" "02330" "LPL_000060" "g.19813667T>G" "" "" "" "LPL(NM_000237.3):c.1018+73T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19956156T>G" "" "likely benign" "" "0000279412" "0" "30" "8" "19813676" "19813676" "subst" "0" "02330" "LPL_000061" "g.19813676C>A" "" "" "" "LPL(NM_000237.3):c.1018+82C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19956165C>A" "" "likely benign" "" "0000279413" "0" "70" "8" "19816785" "19816785" "subst" "2.0316E-5" "02330" "LPL_000062" "g.19816785G>A" "" "" "" "LPL(NM_000237.3):c.1033G>A (p.V345I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19959274G>A" "" "likely pathogenic" "" "0000279415" "0" "10" "8" "19816880" "19816880" "subst" "0.00035775" "02330" "LPL_000063" "g.19816880C>T" "" "" "" "LPL(NM_000237.3):c.1128C>T (p.I376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19959369C>T" "" "benign" "" "0000279416" "0" "50" "8" "19805714" "19805714" "subst" "0.000284245" "02330" "LPL_000012" "g.19805714G>A" "" "" "" "LPL(NM_000237.3):c.112G>A (p.E38K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19948203G>A" "" "VUS" "" "0000279417" "0" "50" "8" "19816888" "19816888" "subst" "0.00176467" "02330" "LPL_000064" "g.19816888C>T" "" "" "" "LPL(NM_000237.3):c.1136C>T (p.T379I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19959377C>T" "" "VUS" "" "0000279418" "0" "10" "8" "19816907" "19816907" "subst" "0" "02330" "LPL_000065" "g.19816907G>C" "" "" "" "LPL(NM_000237.3):c.1139+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19959396G>C" "" "benign" "" "0000279419" "0" "10" "8" "19816910" "19816910" "subst" "2.85246E-5" "02330" "LPL_000023" "g.19816910C>T" "" "" "" "LPL(NM_000237.3):c.1139+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19959399C>T" "" "benign" "" "0000279420" "0" "10" "8" "19818436" "19818436" "subst" "0.134484" "02330" "LPL_000024" "g.19818436C>A" "" "" "" "LPL(NM_000237.3):c.1164C>A (p.T388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19960925C>A" "" "benign" "" "0000279421" "0" "90" "8" "19818439" "19818439" "subst" "0" "02330" "LPL_000025" "g.19818439C>A" "" "" "" "LPL(NM_000237.3):c.1167C>A (p.Y389*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19960928C>A" "" "pathogenic" "" "0000279422" "0" "10" "8" "19818550" "19818550" "subst" "1.21946E-5" "02330" "LPL_000026" "g.19818550C>T" "" "" "" "LPL(NM_000237.3):c.1278C>T (p.F426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19961039C>T" "" "benign" "" "0000279423" "0" "30" "8" "19818551" "19818551" "subst" "0.00309771" "02330" "LPL_000027" "g.19818551G>A" "" "" "" "LPL(NM_000237.3):c.1279G>A (p.A427T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19961040G>A" "" "likely benign" "" "0000279424" "0" "10" "8" "19818610" "19818610" "subst" "4.10263E-6" "02330" "LPL_000028" "g.19818610T>C" "" "" "" "LPL(NM_000237.3):c.1322+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19961099T>C" "" "benign" "" "0000279425" "0" "10" "8" "19818771" "19818772" "del" "0" "02330" "LPL_000029" "g.19818771_19818772del" "" "" "" "LPL(NM_000237.3):c.1322+177_1322+178delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19961260_19961261del" "" "benign" "" "0000279426" "0" "50" "8" "19819628" "19819628" "subst" "0.000426805" "02330" "LPL_000030" "g.19819628T>G" "" "" "" "LPL(NM_000237.3):c.1325T>G (p.V442G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19962117T>G" "" "VUS" "" "0000279427" "0" "30" "8" "19805736" "19805736" "subst" "6.90299E-5" "02330" "LPL_000013" "g.19805736C>A" "" "" "" "LPL(NM_000237.3):c.134C>A (p.T45N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19948225C>A" "" "likely benign" "" "0000279428" "0" "30" "8" "19819659" "19819659" "subst" "8.12863E-6" "02330" "LPL_000031" "g.19819659T>A" "" "" "" "LPL(NM_000237.3):c.1356T>A (p.H452Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19962148T>A" "" "likely benign" "" "0000279429" "0" "10" "8" "19819685" "19819685" "subst" "4.06471E-6" "02330" "LPL_000032" "g.19819685T>C" "" "" "" "LPL(NM_000237.3):c.1382T>C (p.V461A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19962174T>C" "" "benign" "" "0000279430" "0" "90" "8" "19819697" "19819697" "subst" "0" "02330" "LPL_000033" "g.19819697G>A" "" "" "" "LPL(NM_000237.3):c.1394G>A (p.C465Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19962186G>A" "" "pathogenic" "" "0000279431" "0" "10" "8" "19819724" "19819724" "subst" "0.0919042" "02330" "LPL_000034" "g.19819724C>G" "" "" "" "LPL(NM_000237.3):c.1421C>G (p.S474*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19962213C>G" "" "benign" "" "0000279432" "0" "10" "8" "19805776" "19805776" "subst" "3.65467E-5" "02330" "LPL_000014" "g.19805776C>T" "" "" "" "LPL(NM_000237.3):c.174C>T (p.P58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19948265C>T" "" "benign" "" "0000279433" "0" "10" "8" "19805815" "19805815" "subst" "0.000125899" "02330" "LPL_000015" "g.19805815C>T" "" "" "" "LPL(NM_000237.3):c.213C>T (p.H71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19948304C>T" "" "benign" "" "0000279434" "0" "10" "8" "19809263" "19809263" "del" "0" "02330" "LPL_000016" "g.19809263del" "" "" "" "LPL(NM_000237.3):c.250-17delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19951752del" "" "benign" "" "0000279435" "0" "90" "8" "19809279" "19809279" "subst" "0" "02330" "LPL_000017" "g.19809279G>C" "" "" "" "LPL(NM_000237.3):c.250-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19951768G>C" "" "pathogenic" "" "0000279436" "0" "90" "8" "19809316" "19809316" "subst" "0.000109645" "02330" "LPL_000018" "g.19809316G>C" "" "" "" "LPL(NM_000237.3):c.286G>C (p.V96L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19951805G>C" "" "pathogenic" "" "0000279437" "0" "90" "8" "19796953" "19796953" "subst" "0" "02330" "LPL_000005" "g.19796953T>C" "" "" "" "LPL(NM_000237.3):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19939442T>C" "" "pathogenic" "" "0000279438" "0" "90" "8" "19809367" "19809367" "subst" "0" "02330" "LPL_000019" "g.19809367T>C" "" "" "" "LPL(NM_000237.3):c.337T>C (p.W113R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19951856T>C" "" "pathogenic" "" "0000279439" "0" "10" "8" "19796986" "19796986" "subst" "0" "02330" "LPL_000006" "g.19796986C>T" "" "" "" "LPL(NM_000237.3):c.35C>T (p.A12V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19939475C>T" "" "benign" "" "0000279440" "0" "30" "8" "19810815" "19810815" "subst" "0.00786666" "02330" "LPL_000041" "g.19810815C>T" "" "" "" "LPL(NM_000237.3):c.430-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19953304C>T" "" "likely benign" "" "0000279441" "0" "10" "8" "19810826" "19810826" "subst" "0.049744" "02330" "LPL_000042" "g.19810826G>A" "" "" "" "LPL(NM_000237.3):c.435G>A (p.E145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19953315G>A" "" "benign" "" "0000279442" "0" "10" "8" "19810847" "19810847" "subst" "0.000682488" "02330" "LPL_000043" "g.19810847T>C" "" "" "" "LPL(NM_000237.3):c.456T>C (p.N152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19953336T>C" "" "benign" "" "0000279443" "0" "10" "8" "19810886" "19810886" "subst" "0" "02330" "LPL_000044" "g.19810886T>C" "" "" "" "LPL(NM_000237.3):c.495T>C (p.A165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19953375T>C" "" "benign" "" "0000279444" "0" "10" "8" "19810919" "19810919" "subst" "9.34997E-5" "02330" "LPL_000045" "g.19810919C>G" "" "" "" "LPL(NM_000237.3):c.528C>G (p.V176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19953408C>G" "" "benign" "" "0000279445" "0" "30" "8" "19811160" "19811160" "subst" "0" "02330" "LPL_000046" "g.19811160T>C" "" "" "" "LPL(NM_000237.3):c.541+228T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19953649T>C" "" "likely benign" "" "0000279446" "0" "10" "8" "19811417" "19811417" "subst" "0" "02330" "LPL_000048" "g.19811417C>T" "" "" "" "LPL(NM_000237.3):c.542-214C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19953906C>T" "" "benign" "" "0000279447" "0" "30" "8" "19811623" "19811623" "subst" "0.000166618" "02330" "LPL_000049" "g.19811623C>T" "" "" "" "LPL(NM_000237.3):c.542-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19954112C>T" "" "likely benign" "" "0000279448" "0" "10" "8" "19811692" "19811692" "subst" "0" "02330" "LPL_000050" "g.19811692T>C" "" "" "" "LPL(NM_000237.3):c.603T>C (p.D201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19954181T>C" "" "benign" "" "0000279449" "0" "70" "8" "19811706" "19811706" "subst" "0" "02330" "LPL_000051" "g.19811706T>C" "" "" "" "LPL(NM_000237.3):c.617T>C (p.V206A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19954195T>C" "" "likely pathogenic" "" "0000279450" "0" "90" "8" "19811715" "19811715" "subst" "0" "02330" "LPL_000052" "g.19811715T>G" "" "" "" "LPL(NM_000237.3):c.626T>G (p.L209*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19954204T>G" "" "pathogenic" "" "0000279451" "0" "30" "8" "19797014" "19797014" "subst" "0" "02330" "LPL_000007" "g.19797014C>T" "" "" "" "LPL(NM_000237.3):c.63C>T (p.S21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19939503C>T" "" "likely benign" "" "0000279452" "0" "90" "8" "19811733" "19811733" "subst" "0.000190883" "02330" "LPL_000039" "g.19811733G>A" "" "" "" "LPL(NM_000237.3):c.644G>A (p.G215E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19954222G>A" "" "pathogenic" "" "0000279453" "0" "10" "8" "19811776" "19811776" "subst" "0.000268025" "02330" "LPL_000054" "g.19811776T>C" "" "" "" "LPL(NM_000237.3):c.687T>C (p.H229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19954265T>C" "" "benign" "" "0000279454" "0" "30" "8" "19811897" "19811897" "subst" "0.166529" "02330" "LPL_000055" "g.19811897C>G" "" "" "" "LPL(NM_000237.3):c.775+33C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19954386C>G" "" "likely benign" "" "0000279455" "0" "30" "8" "19811901" "19811901" "subst" "0.16635" "02330" "LPL_000056" "g.19811901T>C" "" "" "" "LPL(NM_000237.3):c.775+37T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19954390T>C" "" "likely benign" "" "0000279456" "0" "10" "8" "19813362" "19813362" "subst" "0.000760255" "02330" "LPL_000057" "g.19813362G>A" "" "" "" "LPL(NM_000237.3):c.786G>A (p.Q262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19955851G>A" "" "benign" "" "0000279457" "0" "10" "8" "19805681" "19805681" "subst" "8.12163E-6" "02330" "LPL_000010" "g.19805681T>C" "" "" "" "LPL(NM_000237.3):c.89-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19948170T>C" "" "benign" "" "0000279458" "0" "30" "8" "19805681" "19805681" "del" "0" "02330" "LPL_000009" "g.19805681del" "" "" "" "LPL(NM_000237.3):c.89-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19948170del" "" "likely benign" "" "0000279459" "0" "30" "8" "19805495" "19805495" "subst" "0" "02330" "LPL_000008" "g.19805495T>G" "" "" "" "LPL(NM_000237.3):c.89-196T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19947984T>G" "" "likely benign" "" "0000279460" "0" "50" "8" "19813487" "19813487" "subst" "4.06326E-6" "02330" "LPL_000058" "g.19813487G>C" "" "" "" "LPL(NM_000237.3):c.911G>C (p.S304T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19955976G>C" "" "VUS" "" "0000345868" "0" "70" "8" "19811733" "19811733" "subst" "0.000190883" "02327" "LPL_000039" "g.19811733G>A" "" "" "" "LPL(NM_000237.3):c.644G>A (p.G215E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19954222G>A" "" "likely pathogenic" "" "0000349525" "0" "50" "8" "19805736" "19805736" "subst" "6.90299E-5" "02327" "LPL_000013" "g.19805736C>A" "" "" "" "LPL(NM_000237.3):c.134C>A (p.T45N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19948225C>A" "" "VUS" "" "0000473747" "3" "70" "8" "19819676" "19819676" "del" "0" "02347" "LPL_000067" "g.19819676del" "" "" "" "delC" "" "Germline" "" "" "0" "" "" "g.19962165del" "" "likely pathogenic" "" "0000473748" "1" "50" "8" "19813380" "19813380" "subst" "0" "02347" "LPL_000068" "g.19813380C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.19955869C>A" "" "VUS" "" "0000473839" "2" "70" "8" "19819676" "19819676" "del" "0" "02347" "LPL_000067" "g.19819676del" "" "" "" "delC" "" "Germline" "" "" "0" "" "" "g.19962165del" "" "likely pathogenic" "" "0000534448" "0" "30" "8" "19796669" "19796669" "subst" "0" "02330" "LPL_000069" "g.19796669G>T" "" "" "" "LPL(NM_000237.3):c.-283G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939158G>T" "" "likely benign" "" "0000534449" "0" "10" "8" "19796780" "19796781" "dup" "0" "02330" "LPL_000070" "g.19796780_19796781dup" "" "" "" "LPL(NM_000237.3):c.-172_-171dupCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939269_19939270dup" "" "benign" "" "0000534450" "0" "30" "8" "19796855" "19796855" "subst" "0" "02330" "LPL_000071" "g.19796855G>A" "" "" "" "LPL(NM_000237.3):c.-97G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939344G>A" "" "likely benign" "" "0000534451" "0" "50" "8" "19796863" "19796863" "subst" "0" "02330" "LPL_000072" "g.19796863C>T" "" "" "" "LPL(NM_000237.3):c.-89C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939352C>T" "" "VUS" "" "0000534452" "0" "50" "8" "19796881" "19796881" "subst" "0" "02330" "LPL_000073" "g.19796881C>G" "" "" "" "LPL(NM_000237.3):c.-71C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939370C>G" "" "VUS" "" "0000534453" "0" "90" "8" "19796899" "19796899" "subst" "0" "02330" "LPL_000074" "g.19796899G>C" "" "" "" "LPL(NM_000237.3):c.-53G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939388G>C" "" "pathogenic" "" "0000534454" "0" "50" "8" "19796918" "19796918" "subst" "3.71676E-5" "02330" "LPL_000075" "g.19796918G>C" "" "" "" "LPL(NM_000237.3):c.-34G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939407G>C" "" "VUS" "" "0000534455" "0" "30" "8" "19797049" "19797049" "subst" "1.34802E-5" "02330" "LPL_000076" "g.19797049G>A" "" "" "" "LPL(NM_000237.3):c.88+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939538G>A" "" "likely benign" "" "0000534457" "0" "50" "8" "19805775" "19805775" "subst" "0" "02330" "LPL_000077" "g.19805775C>G" "" "" "" "LPL(NM_000237.3):c.173C>G (p.P58R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19948264C>G" "" "VUS" "" "0000534458" "0" "70" "8" "19805850" "19805850" "subst" "2.43946E-5" "02330" "LPL_000078" "g.19805850C>T" "" "" "" "LPL(NM_000237.3):c.248C>T (p.T83M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19948339C>T" "" "likely pathogenic" "" "0000534459" "0" "30" "8" "19809220" "19809220" "subst" "0" "02330" "LPL_000079" "g.19809220G>A" "" "" "" "LPL(NM_000237.3):c.250-60G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951709G>A" "" "likely benign" "" "0000534460" "0" "30" "8" "19809261" "19809261" "subst" "4.46824E-5" "02330" "LPL_000080" "g.19809261C>T" "" "" "" "LPL(NM_000237.3):c.250-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951750C>T" "" "likely benign" "" "0000534461" "0" "90" "8" "19809316" "19809316" "subst" "0.000109645" "02325" "LPL_000018" "g.19809316G>C" "" "" "" "LPL(NM_000237.3):c.286G>C (p.V96L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951805G>C" "" "pathogenic" "" "0000534462" "0" "70" "8" "19809377" "19809377" "subst" "2.03052E-5" "02330" "LPL_000081" "g.19809377G>A" "" "" "" "LPL(NM_000237.3):c.347G>A (p.R116Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951866G>A" "" "likely pathogenic" "" "0000534463" "0" "30" "8" "19809378" "19809378" "subst" "0" "02330" "LPL_000082" "g.19809378G>A" "" "" "" "LPL(NM_000237.3):c.348G>A (p.R116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951867G>A" "" "likely benign" "" "0000534464" "0" "30" "8" "19809393" "19809393" "subst" "0" "02330" "LPL_000083" "g.19809393C>T" "" "" "" "LPL(NM_000237.3):c.363C>T (p.Y121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951882C>T" "" "likely benign" "" "0000534465" "0" "50" "8" "19809403" "19809403" "subst" "4.46784E-5" "02330" "LPL_000084" "g.19809403G>A" "" "" "" "LPL(NM_000237.3):c.373G>A (p.A125T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951892G>A" "" "VUS" "" "0000534466" "0" "10" "8" "19809435" "19809435" "subst" "0.0331481" "02330" "LPL_000085" "g.19809435G>A" "" "" "" "LPL(NM_000237.3):c.405G>A (p.V135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951924G>A" "" "benign" "" "0000534467" "0" "30" "8" "19809447" "19809447" "subst" "4.062E-6" "02330" "LPL_000086" "g.19809447C>T" "" "" "" "LPL(NM_000237.3):c.417C>T (p.I139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951936C>T" "" "likely benign" "" "0000534468" "0" "10" "8" "19809695" "19809695" "subst" "0" "02330" "LPL_000087" "g.19809695T>C" "" "" "" "LPL(NM_000237.3):c.429+236T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19952184T>C" "" "benign" "" "0000534469" "0" "30" "8" "19810787" "19810787" "subst" "0.0981195" "02330" "LPL_000088" "g.19810787C>A" "" "" "" "LPL(NM_000237.3):c.430-34C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19953276C>A" "" "likely benign" "" "0000534470" "0" "30" "8" "19810835" "19810835" "subst" "4.06246E-6" "02330" "LPL_000089" "g.19810835C>T" "" "" "" "LPL(NM_000237.3):c.444C>T (p.Y148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19953324C>T" "" "likely benign" "" "0000534471" "0" "70" "8" "19810851" "19810851" "subst" "0" "02330" "LPL_000090" "g.19810851C>A" "" "" "" "LPL(NM_000237.3):c.460C>A (p.H154N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19953340C>A" "" "likely pathogenic" "" "0000534472" "0" "30" "8" "19810853" "19810853" "subst" "1.21874E-5" "02330" "LPL_000091" "g.19810853T>C" "" "" "" "LPL(NM_000237.3):c.462T>C (p.H154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19953342T>C" "" "likely benign" "" "0000534473" "0" "10" "8" "19811006" "19811006" "subst" "0" "02330" "LPL_000092" "g.19811006T>C" "" "" "" "LPL(NM_000237.3):c.541+74T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19953495T>C" "" "benign" "" "0000534474" "0" "30" "8" "19811028" "19811029" "dup" "0" "02330" "LPL_000093" "g.19811028_19811029dup" "" "" "" "LPL(NM_000237.3):c.541+96_541+97dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19953517_19953518dup" "" "likely benign" "" "0000534475" "0" "30" "8" "19811614" "19811614" "subst" "0" "02330" "LPL_000094" "g.19811614C>T" "" "" "" "LPL(NM_000237.3):c.542-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954103C>T" "" "likely benign" "" "0000534476" "0" "90" "8" "19811637" "19811637" "subst" "0" "02330" "LPL_000095" "g.19811637A>G" "" "" "" "LPL(NM_000237.3):c.548A>G (p.D183G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954126A>G" "" "pathogenic" "" "0000534477" "0" "70" "8" "19811730" "19811730" "subst" "0" "02330" "LPL_000096" "g.19811730G>T" "" "" "" "LPL(NM_000237.3):c.641G>T (p.R214I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954219G>T" "" "likely pathogenic" "" "0000534478" "0" "30" "8" "19811840" "19811840" "subst" "1.6253E-5" "02330" "LPL_000097" "g.19811840G>A" "" "" "" "LPL(NM_000237.3):c.751G>A (p.V251M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954329G>A" "" "likely benign" "" "0000534479" "0" "30" "8" "19811883" "19811883" "subst" "4.08277E-5" "02330" "LPL_000098" "g.19811883C>A" "" "" "" "LPL(NM_000237.3):c.775+19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954372C>A" "" "likely benign" "" "0000534480" "0" "10" "8" "19811967" "19811967" "subst" "0" "02330" "LPL_000099" "g.19811967C>T" "" "" "" "LPL(NM_000237.3):c.775+103C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954456C>T" "" "benign" "" "0000534481" "0" "30" "8" "19812074" "19812074" "subst" "0" "02330" "LPL_000100" "g.19812074C>T" "" "" "" "LPL(NM_000237.3):c.775+210C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954563C>T" "" "likely benign" "" "0000534482" "0" "10" "8" "19812252" "19812252" "subst" "0" "02330" "LPL_000101" "g.19812252G>C" "" "" "" "LPL(NM_000237.3):c.775+388G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954741G>C" "" "benign" "" "0000534483" "0" "10" "8" "19813180" "19813180" "subst" "0" "02330" "LPL_000102" "g.19813180G>A" "" "" "" "LPL(NM_000237.3):c.776-172G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19955669G>A" "" "benign" "" "0000534484" "0" "90" "8" "19813385" "19813385" "subst" "4.06458E-6" "02330" "LPL_000103" "g.19813385G>A" "" "" "" "LPL(NM_000237.3):c.809G>A (p.R270H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19955874G>A" "" "pathogenic" "" "0000534485" "0" "30" "8" "19813419" "19813419" "subst" "0" "02330" "LPL_000104" "g.19813419T>C" "" "" "" "LPL(NM_000237.3):c.843T>C (p.N281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19955908T>C" "" "likely benign" "" "0000534486" "0" "70" "8" "19813434" "19813437" "del" "0" "02330" "LPL_000105" "g.19813434_19813437del" "" "" "" "LPL(NM_000237.3):c.858_861delTAAG (p.S286Rfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19955923_19955926del" "" "likely pathogenic" "" "0000534487" "0" "30" "8" "19813446" "19813446" "subst" "8.12665E-6" "02330" "LPL_000106" "g.19813446G>A" "" "" "" "LPL(NM_000237.3):c.870G>A (p.R290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19955935G>A" "" "likely benign" "" "0000534488" "0" "50" "8" "19813529" "19813529" "subst" "0.0128896" "02330" "LPL_000107" "g.19813529A>G" "" "" "" "LPL(NM_000237.2):c.953A>G (p.(Asn318Ser)), LPL(NM_000237.3):c.953A>G (p.N318S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19956018A>G" "" "VUS" "" "0000534489" "0" "10" "8" "19813529" "19813529" "subst" "0.0128896" "02325" "LPL_000107" "g.19813529A>G" "" "" "" "LPL(NM_000237.2):c.953A>G (p.(Asn318Ser)), LPL(NM_000237.3):c.953A>G (p.N318S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19956018A>G" "" "benign" "" "0000534490" "0" "50" "8" "19813531" "19813531" "subst" "0" "02330" "LPL_000108" "g.19813531A>C" "" "" "" "LPL(NM_000237.3):c.955A>C (p.K319Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19956020A>C" "" "VUS" "" "0000534491" "0" "70" "8" "19813567" "19813567" "subst" "0" "02330" "LPL_000109" "g.19813567A>G" "" "" "" "LPL(NM_000237.3):c.991A>G (p.K331E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19956056A>G" "" "likely pathogenic" "" "0000534492" "0" "30" "8" "19813628" "19813628" "subst" "0.00366233" "02330" "LPL_000110" "g.19813628A>G" "" "" "" "LPL(NM_000237.3):c.1018+34A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19956117A>G" "" "likely benign" "" "0000534493" "0" "10" "8" "19813702" "19813702" "subst" "0" "02330" "LPL_000111" "g.19813702G>A" "" "" "" "LPL(NM_000237.3):c.1018+108G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19956191G>A" "" "benign" "" "0000534494" "0" "10" "8" "19813976" "19813976" "dup" "0" "02330" "LPL_000112" "g.19813976dup" "" "" "" "LPL(NM_000237.3):c.1018+382dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19956465dup" "" "benign" "" "0000534495" "0" "10" "8" "19816371" "19816371" "subst" "0" "02330" "LPL_000113" "g.19816371T>C" "" "" "" "LPL(NM_000237.3):c.1019-400T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19958860T>C" "" "benign" "" "0000534496" "0" "70" "8" "19816891" "19816891" "subst" "3.25291E-5" "02330" "LPL_000114" "g.19816891T>C" "" "" "" "LPL(NM_000237.3):c.1139T>C (p.L380P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19959380T>C" "" "likely pathogenic" "" "0000534497" "0" "30" "8" "19816906" "19816906" "subst" "3.25576E-5" "02330" "LPL_000115" "g.19816906G>A" "" "" "" "LPL(NM_000237.3):c.1139+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19959395G>A" "" "likely benign" "" "0000534498" "0" "30" "8" "19816911" "19816911" "subst" "4.07528E-5" "02330" "LPL_000116" "g.19816911G>A" "" "" "" "LPL(NM_000237.3):c.1139+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19959400G>A" "" "likely benign" "" "0000534499" "0" "10" "8" "19816934" "19816934" "subst" "0.243609" "02330" "LPL_000117" "g.19816934T>C" "" "" "" "LPL(NM_000237.3):c.1139+43T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19959423T>C" "" "benign" "" "0000534500" "0" "30" "8" "19817260" "19817260" "subst" "0" "02330" "LPL_000118" "g.19817260G>A" "" "" "" "LPL(NM_000237.3):c.1139+369G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19959749G>A" "" "likely benign" "" "0000534501" "0" "10" "8" "19817279" "19817279" "subst" "0" "02330" "LPL_000119" "g.19817279G>C" "" "" "" "LPL(NM_000237.3):c.1139+388G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19959768G>C" "" "benign" "" "0000534502" "0" "10" "8" "19818042" "19818042" "subst" "0" "02330" "LPL_000120" "g.19818042G>A" "" "" "" "LPL(NM_000237.3):c.1140-370G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19960531G>A" "" "benign" "" "0000534503" "0" "50" "8" "19818545" "19818545" "subst" "2.43871E-5" "02330" "LPL_000121" "g.19818545G>A" "" "" "" "LPL(NM_000237.3):c.1273G>A (p.G425S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961034G>A" "" "VUS" "" "0000534504" "0" "10" "8" "19818745" "19818747" "del" "0" "02330" "LPL_000122" "g.19818745_19818747del" "" "" "" "LPL(NM_000237.3):c.1322+151_1322+153delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961234_19961236del" "" "benign" "" "0000534505" "0" "30" "8" "19818780" "19818780" "del" "0" "02330" "LPL_000123" "g.19818780del" "" "" "" "LPL(NM_000237.3):c.1322+186delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961269del" "" "likely benign" "" "0000534506" "0" "10" "8" "19818969" "19818969" "subst" "0" "02330" "LPL_000124" "g.19818969C>G" "" "" "" "LPL(NM_000237.3):c.1322+375C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961458C>G" "" "benign" "" "0000534507" "0" "30" "8" "19818976" "19818976" "subst" "0" "02330" "LPL_000125" "g.19818976A>C" "" "" "" "LPL(NM_000237.3):c.1322+382A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961465A>C" "" "likely benign" "" "0000534508" "0" "10" "8" "19819077" "19819077" "subst" "0" "02330" "LPL_000126" "g.19819077T>G" "" "" "" "LPL(NM_000237.3):c.1322+483T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961566T>G" "" "benign" "" "0000534509" "0" "10" "8" "19819154" "19819154" "subst" "0" "02330" "LPL_000127" "g.19819154T>C" "" "" "" "LPL(NM_000237.3):c.1323-472T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961643T>C" "" "benign" "" "0000534510" "0" "10" "8" "19819217" "19819217" "subst" "0" "02330" "LPL_000128" "g.19819217A>C" "" "" "" "LPL(NM_000237.3):c.1323-409A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961706A>C" "" "benign" "" "0000534511" "0" "30" "8" "19819224" "19819224" "dup" "0" "02330" "LPL_000129" "g.19819224dup" "" "" "" "LPL(NM_000237.3):c.1323-402dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961713dup" "" "likely benign" "" "0000534512" "0" "10" "8" "19819439" "19819439" "subst" "0" "02330" "LPL_000130" "g.19819439A>G" "" "" "" "LPL(NM_000237.3):c.1323-187A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961928A>G" "" "benign" "" "0000534513" "0" "10" "8" "19819536" "19819536" "subst" "0" "02330" "LPL_000131" "g.19819536T>G" "" "" "" "LPL(NM_000237.3):c.1323-90T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19962025T>G" "" "benign" "" "0000534514" "0" "50" "8" "19819628" "19819628" "subst" "0.000426805" "01943" "LPL_000030" "g.19819628T>G" "" "" "" "LPL(NM_000237.3):c.1325T>G (p.V442G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19962117T>G" "" "VUS" "" "0000534515" "0" "50" "8" "19819645" "19819645" "subst" "5.69041E-5" "02330" "LPL_000132" "g.19819645G>A" "" "" "" "LPL(NM_000237.3):c.1342G>A (p.E448K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19962134G>A" "" "VUS" "" "0000534516" "0" "50" "8" "19819669" "19819669" "subst" "0" "02330" "LPL_000133" "g.19819669G>A" "" "" "" "LPL(NM_000237.3):c.1366G>A (p.G456R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19962158G>A" "" "VUS" "" "0000534517" "0" "30" "8" "19819682" "19819682" "subst" "6.9104E-5" "02330" "LPL_000134" "g.19819682C>T" "" "" "" "LPL(NM_000237.3):c.1379C>T (p.A460V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19962171C>T" "" "likely benign" "" "0000534518" "0" "50" "8" "19819735" "19819735" "subst" "0" "02330" "LPL_000135" "g.19819735G>C" "" "" "" "LPL(NM_000237.3):c.1427+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19962224G>C" "" "VUS" "" "0000534519" "0" "10" "8" "19820086" "19820086" "subst" "0" "02330" "LPL_000136" "g.19820086A>G" "" "" "" "LPL(NM_000237.3):c.1427+356A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19962575A>G" "" "benign" "" "0000534520" "0" "10" "8" "19822581" "19822581" "subst" "0" "02330" "LPL_000137" "g.19822581C>T" "" "" "" "LPL(NM_000237.3):c.1428-240C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19965070C>T" "" "benign" "" "0000534522" "0" "50" "8" "19822821" "19822821" "subst" "0" "02330" "LPL_000139" "g.19822821A>G" "" "" "" "LPL(NM_000237.3):c.1428A>G (p.*476Wext*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19965310A>G" "" "VUS" "" "0000595805" "1" "90" "8" "19811718" "19811718" "subst" "0" "03420" "LPL_000140" "g.19811718A>T" "" "" "" "" "variant pathogenic (dominant) with reduced risk" "De novo" "" "" "0" "" "" "g.19954207A>T" "" "pathogenic (!)" "" "0000611559" "0" "50" "8" "19796579" "19796579" "subst" "0" "02330" "LPL_000141" "g.19796579A>C" "" "" "" "LPL(NM_000237.3):c.-373A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939068A>C" "" "VUS" "" "0000611560" "0" "50" "8" "19796585" "19796585" "subst" "0" "02330" "LPL_000142" "g.19796585T>A" "" "" "" "LPL(NM_000237.3):c.-367T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939074T>A" "" "VUS" "" "0000611561" "0" "30" "8" "19796592" "19796592" "subst" "0" "02330" "LPL_000143" "g.19796592G>T" "" "" "" "LPL(NM_000237.3):c.-360G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939081G>T" "" "likely benign" "" "0000611562" "0" "30" "8" "19796711" "19796711" "subst" "0" "02330" "LPL_000145" "g.19796711G>C" "" "" "" "LPL(NM_000237.3):c.-241G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939200G>C" "" "likely benign" "" "0000611563" "0" "30" "8" "19796959" "19796959" "subst" "9.8205E-5" "02330" "LPL_000148" "g.19796959G>A" "" "" "" "LPL(NM_000237.3):c.8G>A (p.S3N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939448G>A" "" "likely benign" "" "0000611564" "0" "30" "8" "19797052" "19797052" "subst" "0" "02330" "LPL_000149" "g.19797052C>G" "" "" "" "LPL(NM_000237.3):c.88+13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939541C>G" "" "likely benign" "" "0000611565" "0" "30" "8" "19805277" "19805277" "subst" "0" "02330" "LPL_000150" "g.19805277G>T" "" "" "" "LPL(NM_000237.3):c.89-414G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19947766G>T" "" "likely benign" "" "0000611566" "0" "30" "8" "19805791" "19805791" "subst" "0.00019897" "02330" "LPL_000152" "g.19805791C>T" "" "" "" "LPL(NM_000237.3):c.189C>T (p.S63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19948280C>T" "" "likely benign" "" "0000611567" "0" "30" "8" "19805796" "19805796" "subst" "0" "01943" "LPL_000153" "g.19805796C>T" "" "" "" "LPL(NM_000237.3):c.194C>T (p.A65V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19948285C>T" "" "likely benign" "" "0000611568" "0" "10" "8" "19805956" "19805956" "subst" "0" "02330" "LPL_000155" "g.19805956C>T" "" "" "" "LPL(NM_000237.3):c.249+105C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19948445C>T" "" "benign" "" "0000611569" "0" "30" "8" "19809306" "19809306" "subst" "0.000357387" "02330" "LPL_000156" "g.19809306G>A" "" "" "" "LPL(NM_000237.3):c.276G>A (p.V92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951795G>A" "" "likely benign" "" "0000611570" "0" "50" "8" "19809320" "19809320" "subst" "0.000320828" "02330" "LPL_000157" "g.19809320C>T" "" "" "" "LPL(NM_000237.3):c.290C>T (p.A97V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951809C>T" "" "VUS" "" "0000611571" "0" "50" "8" "19811837" "19811837" "subst" "2.03155E-5" "02330" "LPL_000161" "g.19811837C>T" "" "" "" "LPL(NM_000237.3):c.748C>T (p.R250C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954326C>T" "" "VUS" "" "0000611572" "0" "70" "8" "19813549" "19813550" "del" "0" "02330" "LPL_000164" "g.19813549_19813550del" "" "" "" "LPL(NM_000237.3):c.973_974delAG (p.S325Qfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19956038_19956039del" "" "likely pathogenic" "" "0000611573" "0" "30" "8" "19816477" "19816477" "subst" "0" "02330" "LPL_000165" "g.19816477A>G" "" "" "" "LPL(NM_000237.3):c.1019-294A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19958966A>G" "" "likely benign" "" "0000611574" "0" "10" "8" "19817997" "19817997" "subst" "0" "02330" "LPL_000169" "g.19817997G>C" "" "" "" "LPL(NM_000237.3):c.1140-415G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19960486G>C" "" "benign" "" "0000611575" "0" "30" "8" "19818770" "19818771" "del" "0" "02330" "LPL_000170" "g.19818770_19818771del" "" "" "" "LPL(NM_000237.3):c.1322+176_1322+177delCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961259_19961260del" "" "likely benign" "" "0000611576" "0" "30" "8" "19818771" "19818771" "subst" "0" "02330" "LPL_000171" "g.19818771A>G" "" "" "" "LPL(NM_000237.3):c.1322+177A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961260A>G" "" "likely benign" "" "0000611577" "0" "10" "8" "19818773" "19818773" "subst" "0" "02330" "LPL_000172" "g.19818773G>T" "" "" "" "LPL(NM_000237.3):c.1322+179G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961262G>T" "" "benign" "" "0000611578" "0" "30" "8" "19818777" "19818780" "dup" "0" "02330" "LPL_000174" "g.19818777_19818780dup" "" "" "" "LPL(NM_000237.3):c.1322+183_1322+186dupGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961266_19961269dup" "" "likely benign" "" "0000611579" "0" "10" "8" "19819328" "19819328" "subst" "0" "02330" "LPL_000175" "g.19819328T>C" "" "" "" "LPL(NM_000237.3):c.1323-298T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961817T>C" "" "benign" "" "0000611580" "0" "50" "8" "19819627" "19819627" "subst" "0" "02330" "LPL_000176" "g.19819627G>T" "" "" "" "LPL(NM_000237.3):c.1324G>T (p.V442L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19962116G>T" "" "VUS" "" "0000611581" "0" "30" "8" "19823192" "19823192" "subst" "0" "02330" "LPL_000179" "g.19823192T>C" "" "" "" "LPL(NM_000237.3):c.*371T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19965681T>C" "" "likely benign" "" "0000622036" "0" "50" "8" "19796688" "19796688" "subst" "0" "02330" "LPL_000144" "g.19796688T>A" "" "" "" "LPL(NM_000237.3):c.-264T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939177T>A" "" "VUS" "" "0000622037" "0" "30" "8" "19796714" "19796714" "subst" "0" "02330" "LPL_000146" "g.19796714G>T" "" "" "" "LPL(NM_000237.3):c.-238G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939203G>T" "" "likely benign" "" "0000622038" "0" "50" "8" "19796730" "19796730" "subst" "0" "02330" "LPL_000147" "g.19796730C>G" "" "" "" "LPL(NM_000237.3):c.-222C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939219C>G" "" "VUS" "" "0000622039" "0" "30" "8" "19805745" "19805745" "subst" "0.000158363" "02330" "LPL_000151" "g.19805745A>T" "" "" "" "LPL(NM_000237.3):c.143A>T (p.D48V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19948234A>T" "" "likely benign" "" "0000622040" "0" "50" "8" "19805815" "19805815" "subst" "0.000824432" "02330" "LPL_000154" "g.19805815C>G" "" "" "" "LPL(NM_000237.3):c.213C>G (p.H71Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19948304C>G" "" "VUS" "" "0000622041" "0" "30" "8" "19809440" "19809440" "subst" "0.0001178" "02330" "LPL_000158" "g.19809440G>A" "" "" "" "LPL(NM_000237.3):c.410G>A (p.R137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951929G>A" "" "likely benign" "" "0000622042" "0" "30" "8" "19811722" "19811722" "subst" "0" "02330" "LPL_000159" "g.19811722A>G" "" "" "" "LPL(NM_000237.3):c.633A>G (p.T211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954211A>G" "" "likely benign" "" "0000622043" "0" "90" "8" "19811732" "19811732" "subst" "0" "02330" "LPL_000160" "g.19811732G>A" "" "" "" "LPL(NM_000237.3):c.643G>A (p.G215R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954221G>A" "" "pathogenic" "" "0000622044" "0" "50" "8" "19811838" "19811838" "subst" "2.03173E-5" "02330" "LPL_000162" "g.19811838G>A" "" "" "" "LPL(NM_000237.3):c.749G>A (p.R250H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954327G>A" "" "VUS" "" "0000622045" "0" "90" "8" "19813384" "19813384" "subst" "8.12949E-6" "02325" "LPL_000163" "g.19813384C>T" "" "" "" "LPL(NM_000237.3):c.808C>T (p.R270C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19955873C>T" "" "pathogenic" "" "0000622046" "0" "10" "8" "19816610" "19816610" "subst" "0" "02330" "LPL_000166" "g.19816610G>A" "" "" "" "LPL(NM_000237.3):c.1019-161G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19959099G>A" "" "benign" "" "0000622047" "0" "30" "8" "19816808" "19816808" "subst" "0" "02330" "LPL_000167" "g.19816808T>C" "" "" "" "LPL(NM_000237.3):c.1056T>C (p.T352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19959297T>C" "" "likely benign" "" "0000622048" "0" "10" "8" "19817625" "19817628" "del" "0" "02330" "LPL_000168" "g.19817625_19817628del" "" "" "" "LPL(NM_000237.3):c.1139+734_1139+737delTAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19960114_19960117del" "" "benign" "" "0000622049" "0" "30" "8" "19818776" "19818780" "dup" "0" "02330" "LPL_000173" "g.19818776_19818780dup" "" "" "" "LPL(NM_000237.3):c.1322+182_1322+186dupGGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961265_19961269dup" "" "likely benign" "" "0000622050" "0" "50" "8" "19819704" "19819704" "subst" "1.21947E-5" "02330" "LPL_000177" "g.19819704C>A" "" "" "" "LPL(NM_000237.3):c.1401C>A (p.D467E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19962193C>A" "" "VUS" "" "0000622051" "0" "30" "8" "19819744" "19819744" "subst" "1.2206E-5" "02330" "LPL_000178" "g.19819744G>A" "" "" "" "LPL(NM_000237.3):c.1427+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19962233G>A" "" "likely benign" "" "0000652466" "1" "30" "8" "19805708" "19805708" "subst" "0.0140498" "03575" "LPL_000011" "g.19805708G>A" "67/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "67 heterozygous; {DB:CLININrs1801177}" "Germline" "" "rs1801177" "0" "" "" "g.19948197G>A" "" "likely benign" "" "0000652467" "1" "90" "8" "19811751" "19811751" "subst" "1.62446E-5" "03575" "LPL_000180" "g.19811751T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs118204061}" "Germline" "" "rs118204061" "0" "" "" "g.19954240T>C" "" "pathogenic" "" "0000652468" "1" "90" "8" "19811844" "19811844" "subst" "2.03153E-5" "03575" "LPL_000181" "g.19811844T>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs118204080}" "Germline" "" "rs118204080" "0" "" "" "g.19954333T>C" "" "pathogenic" "" "0000652469" "1" "90" "8" "19813384" "19813384" "subst" "8.12949E-6" "03575" "LPL_000163" "g.19813384C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs118204077}" "Germline" "" "rs118204077" "0" "" "" "g.19955873C>T" "" "pathogenic" "" "0000652470" "1" "90" "8" "19813529" "19813529" "subst" "0.0128896" "03575" "LPL_000107" "g.19813529A>G" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs268}" "Germline" "" "rs268" "0" "" "" "g.19956018A>G" "" "pathogenic" "" "0000656061" "0" "30" "8" "19796570" "19796570" "subst" "0" "02330" "LPL_000182" "g.19796570G>A" "" "" "" "LPL(NM_000237.3):c.-382G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939059G>A" "" "likely benign" "" "0000656062" "0" "50" "8" "19796624" "19796624" "subst" "0" "02330" "LPL_000183" "g.19796624G>A" "" "" "" "LPL(NM_000237.3):c.-328G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939113G>A" "" "VUS" "" "0000656063" "0" "50" "8" "19796681" "19796681" "dup" "0" "02330" "LPL_000184" "g.19796681dup" "" "" "" "LPL(NM_000237.3):c.-271dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939170dup" "" "VUS" "" "0000656064" "0" "30" "8" "19796745" "19796745" "subst" "0" "02330" "LPL_000185" "g.19796745G>A" "" "" "" "LPL(NM_000237.3):c.-207G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939234G>A" "" "likely benign" "" "0000656065" "0" "50" "8" "19796947" "19796948" "del" "0" "02330" "LPL_000186" "g.19796947_19796948del" "" "" "" "LPL(NM_000237.3):c.-5_-4delCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19939436_19939437del" "" "VUS" "" "0000656067" "0" "30" "8" "19809372" "19809372" "subst" "0" "02330" "LPL_000187" "g.19809372G>A" "" "" "" "LPL(NM_000237.3):c.342G>A (p.L114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19951861G>A" "" "likely benign" "" "0000656068" "0" "10" "8" "19812144" "19812144" "subst" "0" "02330" "LPL_000188" "g.19812144T>A" "" "" "" "LPL(NM_000237.3):c.775+280T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19954633T>A" "" "benign" "" "0000656069" "0" "90" "8" "19813438" "19813438" "subst" "6.09493E-5" "02330" "LPL_000189" "g.19813438G>A" "" "" "" "LPL(NM_000237.3):c.862G>A (p.A288T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19955927G>A" "" "pathogenic" "" "0000656070" "0" "50" "8" "19818482" "19818482" "subst" "4.06316E-6" "02330" "LPL_000190" "g.19818482A>G" "" "" "" "LPL(NM_000237.3):c.1210A>G (p.M404V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19960971A>G" "" "VUS" "" "0000656071" "0" "30" "8" "19818780" "19818780" "dup" "0" "02330" "LPL_000191" "g.19818780dup" "" "" "" "LPL(NM_000237.3):c.1322+186dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19961269dup" "" "likely benign" "" "0000660099" "3" "50" "8" "19813474" "19813474" "subst" "0" "01164" "LPL_000192" "g.19813474G>C" "" "" "" "" "ACMG grading: PM1,PM2,PP3; parents consanguineous, 3 sibblings affected, no segregation performed so far" "Germline" "" "" "0" "" "" "g.19955963G>C" "" "VUS" "ACMG" "0000670006" "3" "30" "8" "19805708" "19805708" "subst" "0.0140498" "03575" "LPL_000011" "g.19805708G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs1801177}" "Germline" "" "rs1801177" "0" "" "" "g.19948197G>A" "" "likely benign" "" "0000678350" "0" "30" "8" "19796538" "19796538" "subst" "0" "02330" "LPL_000193" "g.19796538A>G" "" "" "" "LPL(NM_000237.3):c.-414A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678351" "0" "10" "8" "19805419" "19805419" "subst" "0" "02330" "LPL_000194" "g.19805419T>A" "" "" "" "LPL(NM_000237.3):c.89-272T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678352" "0" "50" "8" "19809292" "19809292" "subst" "0" "02330" "LPL_000195" "g.19809292T>C" "" "" "" "LPL(NM_000237.3):c.262T>C (p.Y88H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678353" "0" "30" "8" "19810928" "19810928" "subst" "4.06607E-6" "02330" "LPL_000196" "g.19810928T>A" "" "" "" "LPL(NM_000237.3):c.537T>A (p.I179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678354" "0" "50" "8" "19811711" "19811711" "subst" "4.06187E-6" "02330" "LPL_000197" "g.19811711G>A" "" "" "" "LPL(NM_000237.3):c.622G>A (p.V208I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678355" "0" "30" "8" "19812121" "19812121" "subst" "0" "02330" "LPL_000198" "g.19812121C>T" "" "" "" "LPL(NM_000237.3):c.775+257C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678356" "0" "50" "8" "19813396" "19813396" "subst" "0" "02330" "LPL_000199" "g.19813396C>T" "" "" "" "LPL(NM_000237.3):c.820C>T (p.L274F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678357" "0" "50" "8" "19816774" "19816774" "subst" "0" "02330" "LPL_000200" "g.19816774T>C" "" "" "" "LPL(NM_000237.3):c.1022T>C (p.F341S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678358" "0" "30" "8" "19816911" "19816911" "subst" "2.44517E-5" "02330" "LPL_000201" "g.19816911G>T" "" "" "" "LPL(NM_000237.3):c.1139+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678359" "0" "30" "8" "19819267" "19819267" "subst" "0" "02330" "LPL_000202" "g.19819267T>C" "" "" "" "LPL(NM_000237.3):c.1323-359T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678360" "0" "30" "8" "19819739" "19819739" "subst" "0" "02330" "LPL_000203" "g.19819739T>A" "" "" "" "LPL(NM_000237.3):c.1427+9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678361" "0" "30" "8" "19819748" "19819748" "subst" "4.06894E-6" "02330" "LPL_000204" "g.19819748A>C" "" "" "" "LPL(NM_000237.3):c.1427+18A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678362" "0" "30" "8" "19822815" "19822815" "del" "0" "02330" "LPL_000205" "g.19822815del" "" "" "" "LPL(NM_000237.3):c.1428-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690224" "0" "30" "8" "19805929" "19805929" "subst" "0" "02330" "LPL_000206" "g.19805929A>G" "" "" "" "LPL(NM_000237.3):c.249+78A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690225" "0" "30" "8" "19809794" "19809794" "subst" "0" "02330" "LPL_000207" "g.19809794C>A" "" "" "" "LPL(NM_000237.3):c.429+335C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690226" "0" "30" "8" "19810791" "19810791" "subst" "0.00577159" "02330" "LPL_000208" "g.19810791A>C" "" "" "" "LPL(NM_000237.3):c.430-30A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690227" "0" "70" "8" "19810888" "19810888" "subst" "0" "02330" "LPL_000209" "g.19810888G>T" "" "" "" "LPL(NM_000237.3):c.497G>T (p.G166V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690228" "0" "70" "8" "19811844" "19811844" "subst" "0" "02330" "LPL_000210" "g.19811844T>A" "" "" "" "LPL(NM_000237.3):c.755T>A (p.I252N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690229" "0" "10" "8" "19812812" "19812812" "subst" "0" "02330" "LPL_000211" "g.19812812C>T" "" "" "" "LPL(NM_000237.3):c.776-540C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690230" "0" "90" "8" "19813384" "19813384" "subst" "8.12949E-6" "02330" "LPL_000163" "g.19813384C>T" "" "" "" "LPL(NM_000237.3):c.808C>T (p.R270C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690231" "0" "90" "8" "19813385" "19813385" "subst" "4.06458E-6" "02325" "LPL_000103" "g.19813385G>A" "" "" "" "LPL(NM_000237.3):c.809G>A (p.R270H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690232" "0" "30" "8" "19813928" "19813928" "subst" "0" "02330" "LPL_000212" "g.19813928C>G" "" "" "" "LPL(NM_000237.3):c.1018+334C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690233" "0" "30" "8" "19818026" "19818026" "subst" "0" "02330" "LPL_000213" "g.19818026A>G" "" "" "" "LPL(NM_000237.3):c.1140-386A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690234" "0" "30" "8" "19818095" "19818095" "subst" "0" "02330" "LPL_000214" "g.19818095T>C" "" "" "" "LPL(NM_000237.3):c.1140-317T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690235" "0" "30" "8" "19818427" "19818427" "subst" "0" "02330" "LPL_000215" "g.19818427A>T" "" "" "" "LPL(NM_000237.3):c.1155A>T (p.T385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690236" "0" "30" "8" "19819224" "19819224" "del" "0" "02330" "LPL_000216" "g.19819224del" "" "" "" "LPL(NM_000237.3):c.1323-402delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690237" "0" "30" "8" "19822460" "19822460" "dup" "0" "02330" "LPL_000217" "g.19822460dup" "" "" "" "LPL(NM_000237.3):c.1428-361dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690238" "0" "30" "8" "19822614" "19822614" "del" "0" "02330" "LPL_000218" "g.19822614del" "" "" "" "LPL(NM_000237.3):c.1428-207delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690239" "0" "30" "8" "19822694" "19822694" "subst" "0" "02330" "LPL_000219" "g.19822694T>C" "" "" "" "LPL(NM_000237.3):c.1428-127T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721906" "0" "30" "8" "19796767" "19796767" "subst" "0" "02330" "LPL_000220" "g.19796767A>T" "" "" "" "LPL(NM_000237.3):c.-185A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721907" "0" "30" "8" "19796787" "19796787" "subst" "0" "02330" "LPL_000221" "g.19796787C>T" "" "" "" "LPL(NM_000237.3):c.-165C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721908" "0" "50" "8" "19796793" "19796793" "subst" "0" "02330" "LPL_000222" "g.19796793C>T" "" "" "" "LPL(NM_000237.3):c.-159C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721909" "0" "30" "8" "19797064" "19797064" "subst" "0.000149711" "02330" "LPL_000223" "g.19797064T>A" "" "" "" "LPL(NM_000237.3):c.88+25T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721910" "0" "30" "8" "19797066" "19797066" "subst" "0" "02330" "LPL_000224" "g.19797066C>G" "" "" "" "LPL(NM_000237.3):c.88+27C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721911" "0" "30" "8" "19805713" "19805713" "subst" "3.2486E-5" "02330" "LPL_000225" "g.19805713C>T" "" "" "" "LPL(NM_000237.3):c.111C>T (p.I37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721912" "0" "50" "8" "19810851" "19810851" "subst" "0" "02325" "LPL_000090" "g.19810851C>A" "" "" "" "LPL(NM_000237.3):c.460C>A (p.H154N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721913" "0" "30" "8" "19810882" "19810882" "subst" "0" "02330" "LPL_000226" "g.19810882C>T" "" "" "" "LPL(NM_000237.3):c.491C>T (p.A164V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721914" "0" "30" "8" "19810949" "19810949" "subst" "8.55564E-5" "02330" "LPL_000227" "g.19810949G>A" "" "" "" "LPL(NM_000237.3):c.541+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721915" "0" "30" "8" "19810951" "19810951" "subst" "0" "02330" "LPL_000228" "g.19810951T>G" "" "" "" "LPL(NM_000237.3):c.541+19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721916" "0" "30" "8" "19811674" "19811674" "subst" "2.84349E-5" "02330" "LPL_000229" "g.19811674G>A" "" "" "" "LPL(NM_000237.3):c.585G>A (p.P195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721917" "0" "30" "8" "19813269" "19813269" "subst" "0" "02330" "LPL_000230" "g.19813269C>G" "" "" "" "LPL(NM_000237.3):c.776-83C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721918" "0" "30" "8" "19813318" "19813318" "subst" "0.000191666" "02330" "LPL_000231" "g.19813318C>T" "" "" "" "LPL(NM_000237.3):c.776-34C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721919" "0" "90" "8" "19813560" "19813560" "subst" "0" "02330" "LPL_000232" "g.19813560G>A" "" "" "" "LPL(NM_000237.3):c.984G>A (p.M328I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721920" "0" "70" "8" "19813573" "19813573" "subst" "8.12817E-6" "02330" "LPL_000233" "g.19813573C>T" "" "" "" "LPL(NM_000237.3):c.997C>T (p.R333C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721921" "0" "30" "8" "19813878" "19813878" "subst" "0" "02330" "LPL_000234" "g.19813878A>C" "" "" "" "LPL(NM_000237.3):c.1018+284A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721922" "0" "30" "8" "19813889" "19813889" "subst" "0" "02330" "LPL_000235" "g.19813889C>A" "" "" "" "LPL(NM_000237.3):c.1018+295C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721923" "0" "10" "8" "19816238" "19816238" "subst" "0" "02330" "LPL_000236" "g.19816238A>C" "" "" "" "LPL(NM_000237.3):c.1019-533A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721924" "0" "30" "8" "19816826" "19816826" "subst" "1.21894E-5" "02330" "LPL_000237" "g.19816826C>T" "" "" "" "LPL(NM_000237.3):c.1074C>T (p.T358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721925" "0" "50" "8" "19816860" "19816860" "subst" "3.65782E-5" "02330" "LPL_000238" "g.19816860G>A" "" "" "" "LPL(NM_000237.3):c.1108G>A (p.V370M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721926" "0" "10" "8" "19817361" "19817361" "subst" "0" "02330" "LPL_000239" "g.19817361T>G" "" "" "" "LPL(NM_000237.3):c.1139+470T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721927" "0" "10" "8" "19817401" "19817401" "subst" "0" "02330" "LPL_000240" "g.19817401A>G" "" "" "" "LPL(NM_000237.3):c.1139+510A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721928" "0" "30" "8" "19818771" "19818771" "subst" "0" "02330" "LPL_000241" "g.19818771A>T" "" "" "" "LPL(NM_000237.3):c.1322+177A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721929" "0" "30" "8" "19818771" "19818771" "del" "0" "02330" "LPL_000242" "g.19818771del" "" "" "" "LPL(NM_000237.3):c.1322+177delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721930" "0" "30" "8" "19819221" "19819221" "subst" "0" "02330" "LPL_000243" "g.19819221A>C" "" "" "" "LPL(NM_000237.3):c.1323-405A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721931" "0" "50" "8" "19819693" "19819693" "subst" "0" "02330" "LPL_000244" "g.19819693A>G" "" "" "" "LPL(NM_000237.3):c.1390A>G (p.K464E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721932" "0" "30" "8" "19822484" "19822484" "del" "0" "02330" "LPL_000245" "g.19822484del" "" "" "" "LPL(NM_000237.3):c.1428-337delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721933" "0" "30" "8" "19822524" "19822524" "subst" "0" "02330" "LPL_000246" "g.19822524C>T" "" "" "" "LPL(NM_000237.3):c.1428-297C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721934" "0" "10" "8" "19822741" "19822741" "subst" "0" "02330" "LPL_000138" "g.19822741T>A" "" "" "" "LPL(NM_000237.3):c.1428-80T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721935" "0" "30" "8" "19823042" "19823042" "subst" "0" "02330" "LPL_000247" "g.19823042C>T" "" "" "" "LPL(NM_000237.3):c.*221C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803578" "0" "50" "8" "19796946" "19796946" "subst" "0" "02330" "LPL_000248" "g.19796946C>T" "" "" "" "LPL(NM_000237.3):c.-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803579" "0" "90" "8" "19809294" "19809294" "subst" "4.06108E-6" "02330" "LPL_000249" "g.19809294T>A" "" "" "" "LPL(NM_000237.3):c.264T>A (p.Y88*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803580" "0" "50" "8" "19809322" "19809322" "subst" "0.000162446" "02330" "LPL_000250" "g.19809322G>A" "" "" "" "LPL(NM_000237.3):c.292G>A (p.A98T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803581" "0" "30" "8" "19810847" "19810847" "subst" "0.000682488" "01943" "LPL_000043" "g.19810847T>C" "" "" "" "LPL(NM_000237.3):c.456T>C (p.N152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803582" "0" "50" "8" "19810916" "19810916" "subst" "2.03226E-5" "02330" "LPL_000251" "g.19810916A>G" "" "" "" "LPL(NM_000237.3):c.525A>G (p.K175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803583" "0" "50" "8" "19811323" "19811323" "subst" "0" "02330" "LPL_000252" "g.19811323C>T" "" "" "" "LPL(NM_000237.3):c.542-308C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803584" "0" "70" "8" "19811679" "19811679" "subst" "6.90507E-5" "02330" "LPL_000253" "g.19811679G>A" "" "" "" "LPL(NM_000237.3):c.590G>A (p.R197H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803585" "0" "30" "8" "19816905" "19816905" "subst" "2.44206E-5" "02330" "LPL_000254" "g.19816905G>T" "" "" "" "LPL(NM_000237.3):c.1139+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803586" "0" "10" "8" "19822493" "19822493" "subst" "0" "02330" "LPL_000255" "g.19822493T>C" "" "" "" "LPL(NM_000237.3):c.1428-328T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000846822" "3" "90" "8" "19813559" "19813559" "subst" "4.06326E-6" "04297" "LPL_000258" "g.19813559T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.19956048T>C" "" "pathogenic (recessive)" "ACMG" "0000846856" "11" "90" "8" "19818609" "19818609" "subst" "0" "04297" "LPL_000259" "g.19818609T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.19961098T>G" "" "pathogenic (recessive)" "ACMG" "0000846857" "11" "90" "8" "19811775" "19811775" "subst" "0" "04297" "LPL_000256" "g.19811775A>T" "" "" "" "" "double heterozygous with APOA5 variant" "Germline" "yes" "" "0" "" "" "g.19954264A>T" "" "likely pathogenic (recessive)" "ACMG" "0000846858" "11" "90" "8" "19813432" "19813432" "subst" "0" "04297" "LPL_000257" "g.19813432A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.19955921A>G" "" "pathogenic" "ACMG" "0000851883" "0" "50" "8" "19796942" "19796942" "subst" "3.57516E-5" "02330" "LPL_000264" "g.19796942G>A" "" "" "" "LPL(NM_000237.3):c.-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851884" "0" "50" "8" "19805768" "19805768" "subst" "0" "02330" "LPL_000269" "g.19805768C>A" "" "" "" "LPL(NM_000237.3):c.166C>A (p.L56I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851885" "0" "30" "8" "19813374" "19813374" "subst" "0.00015446" "02330" "LPL_000272" "g.19813374C>T" "" "" "" "LPL(NM_000237.3):c.798C>T (p.C266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851886" "0" "90" "8" "19813405" "19813405" "subst" "1.62558E-5" "02330" "LPL_000273" "g.19813405G>A" "" "" "" "LPL(NM_000237.3):c.829G>A (p.D277N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851887" "0" "30" "8" "19816638" "19816638" "dup" "0" "02330" "LPL_000274" "g.19816638dup" "" "" "" "LPL(NM_000237.3):c.1019-133dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851888" "0" "50" "8" "19818774" "19818774" "subst" "0" "02330" "LPL_000276" "g.19818774G>T" "" "" "" "LPL(NM_000237.3):c.1322+180G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851889" "0" "30" "8" "19819647" "19819647" "subst" "1.21935E-5" "02330" "LPL_000278" "g.19819647G>A" "" "" "" "LPL(NM_000237.3):c.1344G>A (p.E448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861162" "0" "50" "8" "19796609" "19796609" "subst" "0" "02330" "LPL_000260" "g.19796609C>G" "" "" "" "LPL(NM_000237.3):c.-343C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861163" "0" "50" "8" "19796670" "19796670" "subst" "0" "02330" "LPL_000261" "g.19796670G>T" "" "" "" "LPL(NM_000237.3):c.-282G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861164" "0" "50" "8" "19796773" "19796773" "subst" "0" "02330" "LPL_000262" "g.19796773G>T" "" "" "" "LPL(NM_000237.3):c.-179G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861165" "0" "50" "8" "19796829" "19796829" "subst" "0" "02330" "LPL_000263" "g.19796829A>G" "" "" "" "LPL(NM_000237.3):c.-123A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861166" "0" "50" "8" "19797010" "19797010" "subst" "0.000364116" "02330" "LPL_000265" "g.19797010C>T" "" "" "" "LPL(NM_000237.3):c.59C>T (p.A20V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861167" "0" "30" "8" "19797233" "19797233" "subst" "0" "02330" "LPL_000266" "g.19797233C>A" "" "" "" "LPL(NM_000237.3):c.88+194C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861168" "0" "50" "8" "19805699" "19805699" "subst" "0" "02330" "LPL_000267" "g.19805699G>C" "" "" "" "LPL(NM_000237.3):c.97G>C (p.D33H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861170" "0" "70" "8" "19805719" "19805719" "subst" "0" "02330" "LPL_000268" "g.19805719T>G" "" "" "" "LPL(NM_000237.3):c.117T>G (p.S39R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861171" "0" "50" "8" "19809421" "19809421" "subst" "0" "02330" "LPL_000270" "g.19809421G>T" "" "" "" "LPL(NM_000237.3):c.391G>T (p.V131L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861172" "0" "50" "8" "19810830" "19810830" "subst" "1.21875E-5" "02330" "LPL_000271" "g.19810830A>C" "" "" "" "LPL(NM_000237.3):c.439A>C (p.N147H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861173" "0" "50" "8" "19813529" "19813529" "subst" "0.0128896" "01804" "LPL_000107" "g.19813529A>G" "" "" "" "LPL(NM_000237.2):c.953A>G (p.(Asn318Ser)), LPL(NM_000237.3):c.953A>G (p.N318S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861174" "0" "30" "8" "19816663" "19816663" "subst" "0" "02330" "LPL_000275" "g.19816663G>A" "" "" "" "LPL(NM_000237.3):c.1019-108G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861175" "0" "30" "8" "19819220" "19819224" "del" "0" "02330" "LPL_000277" "g.19819220_19819224del" "" "" "" "LPL(NM_000237.3):c.1323-406_1323-402delAAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861176" "0" "50" "8" "19820166" "19820166" "subst" "0" "02330" "LPL_000279" "g.19820166A>C" "" "" "" "LPL(NM_000237.3):c.1427+436A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861177" "0" "10" "8" "19822810" "19822810" "subst" "0.0952412" "01943" "LPL_000037" "g.19822810C>T" "" "" "" "LPL(NM_000237.3):c.1428-11C>T, LPL(NM_000237.3):c.1428-11_1428-10delCTinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000868744" "21" "90" "8" "19813500" "19813501" "ins" "0" "01864" "LPL_000285" "g.19813500_19813501insG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.19955989_19955990insG" "" "pathogenic (recessive)" "ACMG" "0000868745" "11" "70" "8" "19809323" "19809323" "subst" "4.06118E-6" "01864" "LPL_000280" "g.19809323C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000868746" "21" "70" "8" "19813586" "19813586" "subst" "0" "01864" "LPL_000286" "g.19813586C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000868747" "0" "70" "8" "19810929" "19810929" "subst" "0" "01864" "LPL_000281" "g.19810929A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000868748" "21" "90" "8" "19813475" "19813493" "dup" "0" "01864" "LPL_000283" "g.19813475_19813493dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.19955964_19955982dup" "" "pathogenic (recessive)" "ACMG" "0000868749" "21" "90" "8" "19813475" "19813497" "dup" "0" "01864" "LPL_000284" "g.19813475_19813497dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.19955964_19955986dup" "" "pathogenic (recessive)" "ACMG" "0000868750" "11" "90" "8" "19811865" "19811865" "subst" "0" "01864" "LPL_000282" "g.19811865G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000888270" "0" "50" "8" "19796652" "19796652" "subst" "0" "02330" "LPL_000287" "g.19796652G>A" "" "" "" "LPL(NM_000237.3):c.-300G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888271" "0" "50" "8" "19796688" "19796688" "subst" "0" "02330" "LPL_000288" "g.19796688T>C" "" "" "" "LPL(NM_000237.3):c.-264T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888272" "0" "50" "8" "19796859" "19796859" "subst" "0" "02330" "LPL_000289" "g.19796859C>T" "" "" "" "LPL(NM_000237.3):c.-93C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888273" "0" "30" "8" "19797337" "19797337" "subst" "0" "02330" "LPL_000290" "g.19797337G>A" "" "" "" "LPL(NM_000237.3):c.88+298G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888274" "0" "70" "8" "19805692" "19805693" "ins" "0" "02330" "LPL_000291" "g.19805692_19805693insG" "" "" "" "LPL(NM_000237.3):c.90_91insG (p.R31Efs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888275" "0" "30" "8" "19809264" "19809264" "subst" "0.000109671" "02330" "LPL_000292" "g.19809264G>T" "" "" "" "LPL(NM_000237.3):c.250-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888276" "0" "90" "8" "19809316" "19809316" "subst" "0.000109645" "02329" "LPL_000018" "g.19809316G>C" "" "" "" "LPL(NM_000237.3):c.286G>C (p.V96L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888277" "0" "30" "8" "19810889" "19810889" "subst" "8.12638E-6" "02330" "LPL_000293" "g.19810889C>T" "" "" "" "LPL(NM_000237.3):c.498C>T (p.G166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888278" "0" "30" "8" "19810931" "19810931" "subst" "8.13299E-6" "02330" "LPL_000294" "g.19810931T>C" "" "" "" "LPL(NM_000237.3):c.540T>C (p.T180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888279" "0" "50" "8" "19810932" "19810932" "subst" "0" "02325" "LPL_000295" "g.19810932G>A" "" "" "" "LPL(NM_000237.3):c.541G>A (p.G181S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888280" "0" "90" "8" "19811636" "19811636" "subst" "4.06246E-6" "02330" "LPL_000296" "g.19811636G>C" "" "" "" "LPL(NM_000237.3):c.547G>C (p.D183H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888281" "0" "50" "8" "19811661" "19811661" "subst" "5.28022E-5" "02330" "LPL_000297" "g.19811661A>T" "" "" "" "LPL(NM_000237.3):c.572A>T (p.Y191F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888282" "0" "50" "8" "19811768" "19811768" "subst" "0" "02330" "LPL_000298" "g.19811768G>C" "" "" "" "LPL(NM_000237.3):c.679G>C (p.V227L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888283" "0" "50" "8" "19811841" "19811841" "subst" "0" "02330" "LPL_000299" "g.19811841T>A" "" "" "" "LPL(NM_000237.3):c.752T>A (p.V251E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888284" "0" "90" "8" "19811854" "19811855" "del" "0" "02330" "LPL_000300" "g.19811854_19811855del" "" "" "" "LPL(NM_000237.3):c.765_766delAG (p.G256Tfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888285" "0" "30" "8" "19811878" "19811878" "subst" "4.07564E-6" "02330" "LPL_000301" "g.19811878A>C" "" "" "" "LPL(NM_000237.3):c.775+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888286" "0" "30" "8" "19811883" "19811883" "subst" "1.63311E-5" "02330" "LPL_000302" "g.19811883C>T" "" "" "" "LPL(NM_000237.3):c.775+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888287" "0" "90" "8" "19813467" "19813467" "dup" "0" "02330" "LPL_000303" "g.19813467dup" "" "" "" "LPL(NM_000237.3):c.891dupT (p.E298*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888288" "0" "30" "8" "19813479" "19813479" "subst" "4.06312E-6" "02330" "LPL_000304" "g.19813479C>G" "" "" "" "LPL(NM_000237.3):c.903C>G (p.L301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888289" "0" "50" "8" "19813569" "19813569" "subst" "0" "02330" "LPL_000305" "g.19813569G>C" "" "" "" "LPL(NM_000237.3):c.993G>C (p.K331N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888290" "0" "50" "8" "19816812" "19816812" "subst" "0" "02330" "LPL_000306" "g.19816812A>T" "" "" "" "LPL(NM_000237.3):c.1060A>T (p.S354C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888291" "0" "30" "8" "19816865" "19816865" "subst" "2.845E-5" "02330" "LPL_000307" "g.19816865C>T" "" "" "" "LPL(NM_000237.3):c.1113C>T (p.A371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888292" "0" "50" "8" "19816871" "19816871" "subst" "0" "02330" "LPL_000308" "g.19816871T>G" "" "" "" "LPL(NM_000237.3):c.1119T>G (p.S373R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888293" "0" "50" "8" "19818416" "19818416" "subst" "0" "02330" "LPL_000309" "g.19818416G>A" "" "" "" "LPL(NM_000237.3):c.1144G>A (p.E382K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888294" "0" "50" "8" "19818447" "19818447" "subst" "0" "02330" "LPL_000310" "g.19818447T>C" "" "" "" "LPL(NM_000237.3):c.1175T>C (p.L392P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888295" "0" "30" "8" "19818460" "19818460" "subst" "0" "02330" "LPL_000311" "g.19818460G>A" "" "" "" "LPL(NM_000237.3):c.1188G>A (p.E396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888296" "0" "30" "8" "19818609" "19818609" "subst" "6.56367E-5" "02330" "LPL_000312" "g.19818609T>A" "" "" "" "LPL(NM_000237.3):c.1322+15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888297" "0" "30" "8" "19819221" "19819224" "del" "0" "02330" "LPL_000313" "g.19819221_19819224del" "" "" "" "LPL(NM_000237.3):c.1323-405_1323-402delAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888298" "0" "30" "8" "19819737" "19819737" "subst" "0" "02330" "LPL_000314" "g.19819737A>G" "" "" "" "LPL(NM_000237.3):c.1427+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888299" "0" "30" "8" "19823276" "19823276" "subst" "0" "02330" "LPL_000315" "g.19823276C>T" "" "" "" "LPL(NM_000237.3):c.*455C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909164" "0" "70" "8" "19650000" "199650000" "del" "0" "00006" "LPL_000316" "g.(?_19650000)_(199650000_?)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure, includes INST10 and LPL; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000909165" "0" "70" "8" "19650000" "199650000" "del" "0" "00006" "LPL_000316" "g.(?_19650000)_(199650000_?)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure, includes INST10 and LPL; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000909166" "0" "70" "8" "19650000" "199650000" "del" "0" "00006" "LPL_000316" "g.(?_19650000)_(199650000_?)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure, includes INST10 and LPL; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000909167" "0" "70" "8" "19650000" "199650000" "del" "0" "00006" "LPL_000316" "g.(?_19650000)_(199650000_?)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure, includes INST10 and LPL; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000912931" "0" "50" "8" "19796793" "19796795" "dup" "0" "02330" "LPL_000317" "g.19796793_19796795dup" "" "" "" "LPL(NM_000237.3):c.-161_-159dupTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912932" "0" "50" "8" "19809439" "19809439" "subst" "1.21853E-5" "02330" "LPL_000318" "g.19809439C>T" "" "" "" "LPL(NM_000237.3):c.409C>T (p.R137W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912933" "0" "70" "8" "19811751" "19811751" "subst" "1.62446E-5" "02330" "LPL_000180" "g.19811751T>C" "" "" "" "LPL(NM_000237.3):c.662T>C (p.I221T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912934" "0" "30" "8" "19813102" "19813107" "del" "0" "02330" "LPL_000319" "g.19813102_19813107del" "" "" "" "LPL(NM_000237.3):c.776-250_776-245delCTCATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924855" "0" "50" "8" "19796761" "19796761" "subst" "0" "02330" "LPL_000320" "g.19796761A>T" "" "" "" "LPL(NM_000237.3):c.-191A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924856" "0" "50" "8" "19809329" "19809329" "subst" "0" "02330" "LPL_000321" "g.19809329A>G" "" "" "" "LPL(NM_000237.3):c.299A>G (p.Y100C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924857" "0" "50" "8" "19809377" "19809377" "subst" "0" "02330" "LPL_000322" "g.19809377G>C" "" "" "" "LPL(NM_000237.3):c.347G>C (p.R116P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924858" "0" "50" "8" "19809404" "19809404" "subst" "1.21847E-5" "02330" "LPL_000323" "g.19809404C>T" "" "" "" "LPL(NM_000237.3):c.374C>T (p.A125V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924859" "0" "90" "8" "19813411" "19813411" "subst" "0.000109718" "02330" "LPL_000324" "g.19813411C>G" "" "" "" "LPL(NM_000237.3):c.835C>G (p.L279V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929434" "0" "50" "8" "19796607" "19796607" "subst" "0" "02330" "LPL_000325" "g.19796607C>G" "" "" "" "LPL(NM_000237.3):c.-345C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929435" "0" "70" "8" "19796997" "19796998" "del" "4.25275E-6" "02330" "LPL_000326" "g.19796997_19796998del" "" "" "" "LPL(NM_000237.3):c.46_47delCA (p.Q16Efs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929436" "0" "50" "8" "19811744" "19811744" "subst" "0" "02330" "LPL_000327" "g.19811744C>G" "" "" "" "LPL(NM_000237.3):c.655C>G (p.R219G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000934960" "0" "90" "8" "19811733" "19811733" "subst" "0.000190883" "03779" "LPL_000039" "g.19811733G>A" "" "" "" "" "" "Unknown" "" "rs118204057" "0" "" "" "" "" "pathogenic" "" "0000934961" "0" "90" "8" "19805844" "19805844" "subst" "4.06451E-6" "03779" "LPL_000328" "g.19805844G>A" "" "" "" "" "" "Unknown" "" "rs762007406" "0" "" "" "" "" "pathogenic" "" "0000934963" "0" "70" "8" "19813432" "19813432" "subst" "0" "03779" "LPL_000329" "g.19813432A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000949056" "0" "50" "8" "19796983" "19796983" "subst" "0" "02330" "LPL_000330" "g.19796983T>C" "" "" "" "LPL(NM_000237.3):c.32T>C (p.L11P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949057" "0" "30" "8" "19809321" "19809321" "subst" "0" "02330" "LPL_000331" "g.19809321C>T" "" "" "" "LPL(NM_000237.3):c.291C>T (p.A97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949058" "0" "30" "8" "19811635" "19811635" "subst" "8.12434E-6" "02330" "LPL_000332" "g.19811635C>T" "" "" "" "LPL(NM_000237.3):c.546C>T (p.L182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949059" "0" "90" "8" "19811636" "19811636" "subst" "0" "02330" "LPL_000333" "g.19811636G>A" "" "" "" "LPL(NM_000237.3):c.547G>A (p.D183N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949060" "0" "30" "8" "19812076" "19812076" "subst" "0" "02330" "LPL_000334" "g.19812076G>A" "" "" "" "LPL(NM_000237.3):c.775+212G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964944" "0" "50" "8" "19796592" "19796592" "subst" "0" "02330" "LPL_000335" "g.19796592G>A" "" "" "" "LPL(NM_000237.3):c.-360G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964945" "0" "50" "8" "19796777" "19796777" "subst" "0" "02330" "LPL_000336" "g.19796777C>T" "" "" "" "LPL(NM_000237.3):c.-175C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964946" "0" "10" "8" "19797079" "19797079" "subst" "0.00270477" "02330" "LPL_000337" "g.19797079G>A" "" "" "" "LPL(NM_000237.3):c.88+40G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964947" "0" "50" "8" "19805677" "19805677" "subst" "0" "02330" "LPL_000338" "g.19805677T>A" "" "" "" "LPL(NM_000237.3):c.89-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964948" "0" "50" "8" "19805750" "19805750" "subst" "0" "02330" "LPL_000339" "g.19805750G>C" "" "" "" "LPL(NM_000237.3):c.148G>C (p.A50P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964949" "0" "10" "8" "19806180" "19806180" "subst" "0" "02330" "LPL_000340" "g.19806180G>A" "" "" "" "LPL(NM_000237.3):c.249+329G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964950" "0" "50" "8" "19809290" "19809290" "subst" "0" "02330" "LPL_000341" "g.19809290T>A" "" "" "" "LPL(NM_000237.3):c.260T>A (p.M87K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964951" "0" "50" "8" "19809440" "19809440" "subst" "4.06207E-6" "02330" "LPL_000342" "g.19809440G>T" "" "" "" "LPL(NM_000237.3):c.410G>T (p.R137L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964952" "0" "30" "8" "19809478" "19809478" "subst" "0" "02330" "LPL_000343" "g.19809478G>A" "" "" "" "LPL(NM_000237.3):c.429+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964953" "0" "70" "8" "19811679" "19811679" "subst" "6.90507E-5" "02327" "LPL_000253" "g.19811679G>A" "" "" "" "LPL(NM_000237.3):c.590G>A (p.R197H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000964954" "0" "30" "8" "19812228" "19812228" "subst" "0" "02330" "LPL_000344" "g.19812228A>C" "" "" "" "LPL(NM_000237.3):c.775+364A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964955" "0" "70" "8" "19813385" "19813385" "subst" "4.06458E-6" "02327" "LPL_000103" "g.19813385G>A" "" "" "" "LPL(NM_000237.3):c.809G>A (p.R270H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000964956" "0" "10" "8" "19816584" "19816584" "subst" "0" "02330" "LPL_000345" "g.19816584C>T" "" "" "" "LPL(NM_000237.3):c.1019-187C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964957" "0" "30" "8" "19816706" "19816709" "del" "0" "02330" "LPL_000346" "g.19816706_19816709del" "" "" "" "LPL(NM_000237.3):c.1019-65_1019-62delGACT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964958" "0" "50" "8" "19818572" "19818572" "subst" "0" "02330" "LPL_000347" "g.19818572A>C" "" "" "" "LPL(NM_000237.3):c.1300A>C (p.K434Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964959" "0" "10" "8" "19818771" "19818773" "del" "0" "02330" "LPL_000348" "g.19818771_19818773del" "" "" "" "LPL(NM_000237.3):c.1322+177_1322+179delAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978154" "0" "30" "8" "19796553" "19796553" "subst" "0" "02330" "LPL_000349" "g.19796553A>C" "" "" "" "LPL(NM_000237.3):c.-399A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978155" "0" "50" "8" "19796845" "19796845" "subst" "0" "02330" "LPL_000350" "g.19796845G>C" "" "" "" "LPL(NM_000237.3):c.-107G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978156" "0" "50" "8" "19805751" "19805751" "subst" "0.00014212" "02330" "LPL_000351" "g.19805751C>G" "" "" "" "LPL(NM_000237.3):c.149C>G (p.A50G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978157" "0" "50" "8" "19805777" "19805777" "subst" "2.84259E-5" "02330" "LPL_000352" "g.19805777G>A" "" "" "" "LPL(NM_000237.3):c.175G>A (p.G59R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978158" "0" "70" "8" "19811816" "19811816" "subst" "0" "02330" "LPL_000353" "g.19811816T>A" "" "" "" "LPL(NM_000237.3):c.727T>A (p.C243S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978159" "0" "30" "8" "19816752" "19816752" "subst" "8.12869E-6" "02330" "LPL_000354" "g.19816752C>T" "" "" "" "LPL(NM_000237.3):c.1019-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978160" "0" "30" "8" "19819683" "19819683" "subst" "1.21945E-5" "02330" "LPL_000355" "g.19819683G>A" "" "" "" "LPL(NM_000237.3):c.1380G>A (p.A460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997087" "0" "50" "8" "19796668" "19796668" "subst" "0" "02330" "LPL_000356" "g.19796668A>T" "" "" "" "LPL(NM_000237.3):c.-284A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997088" "0" "50" "8" "19796914" "19796914" "subst" "0" "02330" "LPL_000357" "g.19796914C>G" "" "" "" "LPL(NM_000237.3):c.-38C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997089" "0" "50" "8" "19805759" "19805759" "subst" "8.1213E-6" "02330" "LPL_000358" "g.19805759A>G" "" "" "" "LPL(NM_000237.3):c.157A>G (p.T53A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997090" "0" "50" "8" "19805851" "19805851" "subst" "0.000105736" "02330" "LPL_000359" "g.19805851G>A" "" "" "" "LPL(NM_000237.3):c.249G>A (p.T83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997091" "0" "30" "8" "19810948" "19810948" "subst" "4.07299E-6" "02330" "LPL_000360" "g.19810948C>T" "" "" "" "LPL(NM_000237.3):c.541+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014433" "0" "30" "8" "19808999" "19808999" "subst" "0" "02330" "LPL_000361" "g.19808999A>C" "" "" "" "LPL(NM_000237.3):c.250-281A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014434" "0" "50" "8" "19818458" "19818458" "subst" "0" "02330" "LPL_000362" "g.19818458G>A" "" "" "" "LPL(NM_000237.3):c.1186G>A (p.E396K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025507" "0" "50" "8" "19809453" "19809453" "subst" "0" "02330" "LPL_000363" "g.19809453G>C" "" "" "" "LPL(NM_000237.3):c.423G>C (p.W141C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025508" "0" "30" "8" "19813598" "19813598" "subst" "1.21996E-5" "02330" "LPL_000364" "g.19813598G>C" "" "" "" "LPL(NM_000237.3):c.1018+4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036903" "0" "50" "8" "19796606" "19796606" "subst" "0" "02330" "LPL_000365" "g.19796606C>T" "" "" "" "LPL(NM_000237.3):c.-346C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036904" "0" "30" "8" "19809272" "19809274" "del" "0" "02330" "LPL_000366" "g.19809272_19809274del" "" "" "" "LPL(NM_000237.3):c.250-8_250-6delATC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036905" "0" "50" "8" "19811678" "19811678" "subst" "4.06161E-5" "02330" "LPL_000367" "g.19811678C>T" "" "" "" "LPL(NM_000237.3):c.589C>T (p.R197C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036906" "0" "70" "8" "19811790" "19811790" "subst" "4.06144E-5" "02325" "LPL_000368" "g.19811790C>T" "" "" "" "LPL(NM_000237.3):c.701C>T (p.P234L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes LPL ## Count = 390 "{{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}}" "0000246693" "00024762" "10" "345" "0" "345" "0" "c.345A>C" "r.(?)" "p.(Ser115=)" "" "0000246694" "00024762" "10" "678" "0" "678" "0" "c.678A>G" "r.(?)" "p.(Pro226=)" "" "0000246748" "00024762" "30" "429" "20" "429" "20" "c.429+20A>C" "r.(=)" "p.(=)" "" "0000246749" "00024762" "30" "541" "302" "541" "302" "c.541+302del" "r.(=)" "p.(=)" "" "0000246750" "00024762" "30" "776" "-53" "776" "-53" "c.776-53A>G" "r.(=)" "p.(=)" "" "0000246751" "00024762" "30" "1427" "7" "1427" "7" "c.1427+7A>C" "r.(=)" "p.(=)" "" "0000246767" "00024762" "30" "1411" "0" "1411" "0" "c.1411A>C" "r.(?)" "p.(Asn471His)" "" "0000246769" "00024762" "30" "1135" "0" "1135" "0" "c.1135A>G" "r.(?)" "p.(Thr379Ala)" "" "0000279403" "00024762" "10" "-107" "0" "-107" "0" "c.-107G>A" "r.(?)" "p.(=)" "" "0000279404" "00024762" "30" "-14" "0" "-14" "0" "c.-14G>A" "r.(?)" "p.(=)" "" "0000279406" "00024762" "30" "-281" "0" "-281" "0" "c.-281T>G" "r.(?)" "p.(=)" "" "0000279407" "00024762" "30" "1428" "-11" "1428" "-11" "c.1428-11C>T" "r.(=)" "p.(=)" "" "0000279408" "00024762" "30" "1428" "-16" "1428" "-5" "c.1428-16_1428-5del" "r.spl?" "p.?" "" "0000279409" "00024762" "10" "1437" "0" "1437" "0" "c.*9G>A" "r.(=)" "p.(=)" "" "0000279410" "00024762" "10" "1018" "16" "1018" "16" "c.1018+16T>C" "r.(=)" "p.(=)" "" "0000279411" "00024762" "30" "1018" "73" "1018" "73" "c.1018+73T>G" "r.(=)" "p.(=)" "" "0000279412" "00024762" "30" "1018" "82" "1018" "82" "c.1018+82C>A" "r.(=)" "p.(=)" "" "0000279413" "00024762" "70" "1033" "0" "1033" "0" "c.1033G>A" "r.(?)" "p.(Val345Ile)" "" "0000279415" "00024762" "10" "1128" "0" "1128" "0" "c.1128C>T" "r.(?)" "p.(Ile376=)" "" "0000279416" "00024762" "50" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Glu38Lys)" "" "0000279417" "00024762" "50" "1136" "0" "1136" "0" "c.1136C>T" "r.(?)" "p.(Thr379Ile)" "" "0000279418" "00024762" "10" "1139" "16" "1139" "16" "c.1139+16G>C" "r.(=)" "p.(=)" "" "0000279419" "00024762" "10" "1139" "19" "1139" "19" "c.1139+19C>T" "r.(=)" "p.(=)" "" "0000279420" "00024762" "10" "1164" "0" "1164" "0" "c.1164C>A" "r.(?)" "p.(Thr388=)" "" "0000279421" "00024762" "90" "1167" "0" "1167" "0" "c.1167C>A" "r.(?)" "p.(Tyr389Ter)" "" "0000279422" "00024762" "10" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Phe426=)" "" "0000279423" "00024762" "30" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.(Ala427Thr)" "" "0000279424" "00024762" "10" "1322" "16" "1322" "16" "c.1322+16T>C" "r.(=)" "p.(=)" "" "0000279425" "00024762" "10" "1322" "177" "1322" "178" "c.1322+177_1322+178del" "r.(=)" "p.(=)" "" "0000279426" "00024762" "50" "1325" "0" "1325" "0" "c.1325T>G" "r.(?)" "p.(Val442Gly)" "" "0000279427" "00024762" "30" "134" "0" "134" "0" "c.134C>A" "r.(?)" "p.(Thr45Asn)" "" "0000279428" "00024762" "30" "1356" "0" "1356" "0" "c.1356T>A" "r.(?)" "p.(His452Gln)" "" "0000279429" "00024762" "10" "1382" "0" "1382" "0" "c.1382T>C" "r.(?)" "p.(Val461Ala)" "" "0000279430" "00024762" "90" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Cys465Tyr)" "" "0000279431" "00024762" "10" "1421" "0" "1421" "0" "c.1421C>G" "r.(?)" "p.(Ser474Ter)" "" "0000279432" "00024762" "10" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(Pro58=)" "" "0000279433" "00024762" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(His71=)" "" "0000279434" "00024762" "10" "250" "-17" "250" "-17" "c.250-17del" "r.(=)" "p.(=)" "" "0000279435" "00024762" "90" "250" "-1" "250" "-1" "c.250-1G>C" "r.spl?" "p.?" "" "0000279436" "00024762" "90" "286" "0" "286" "0" "c.286G>C" "r.(?)" "p.(Val96Leu)" "" "0000279437" "00024762" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000279438" "00024762" "90" "337" "0" "337" "0" "c.337T>C" "r.(?)" "p.(Trp113Arg)" "" "0000279439" "00024762" "10" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Ala12Val)" "" "0000279440" "00024762" "30" "430" "-6" "430" "-6" "c.430-6C>T" "r.(=)" "p.(=)" "" "0000279441" "00024762" "10" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Glu145=)" "" "0000279442" "00024762" "10" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(Asn152=)" "" "0000279443" "00024762" "10" "495" "0" "495" "0" "c.495T>C" "r.(?)" "p.(Ala165=)" "" "0000279444" "00024762" "10" "528" "0" "528" "0" "c.528C>G" "r.(?)" "p.(Val176=)" "" "0000279445" "00024762" "30" "541" "228" "541" "228" "c.541+228T>C" "r.(=)" "p.(=)" "" "0000279446" "00024762" "10" "542" "-214" "542" "-214" "c.542-214C>T" "r.(=)" "p.(=)" "" "0000279447" "00024762" "30" "542" "-8" "542" "-8" "c.542-8C>T" "r.(=)" "p.(=)" "" "0000279448" "00024762" "10" "603" "0" "603" "0" "c.603T>C" "r.(?)" "p.(Asp201=)" "" "0000279449" "00024762" "70" "617" "0" "617" "0" "c.617T>C" "r.(?)" "p.(Val206Ala)" "" "0000279450" "00024762" "90" "626" "0" "626" "0" "c.626T>G" "r.(?)" "p.(Leu209Ter)" "" "0000279451" "00024762" "30" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.(Ser21=)" "" "0000279452" "00024762" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Gly215Glu)" "" "0000279453" "00024762" "10" "687" "0" "687" "0" "c.687T>C" "r.(?)" "p.(His229=)" "" "0000279454" "00024762" "30" "775" "33" "775" "33" "c.775+33C>G" "r.(=)" "p.(=)" "" "0000279455" "00024762" "30" "775" "37" "775" "37" "c.775+37T>C" "r.(=)" "p.(=)" "" "0000279456" "00024762" "10" "786" "0" "786" "0" "c.786G>A" "r.(?)" "p.(Gln262=)" "" "0000279457" "00024762" "10" "89" "-10" "89" "-10" "c.89-10T>C" "r.(=)" "p.(=)" "" "0000279458" "00024762" "30" "89" "-10" "89" "-10" "c.89-10del" "r.(=)" "p.(=)" "" "0000279459" "00024762" "30" "89" "-196" "89" "-196" "c.89-196T>G" "r.(=)" "p.(=)" "" "0000279460" "00024762" "50" "911" "0" "911" "0" "c.911G>C" "r.(?)" "p.(Ser304Thr)" "" "0000345868" "00024762" "70" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Gly215Glu)" "" "0000349525" "00024762" "50" "134" "0" "134" "0" "c.134C>A" "r.(?)" "p.(Thr45Asn)" "" "0000473747" "00024762" "70" "1373" "0" "1373" "0" "c.1373del" "r.(?)" "p.(Ala458Aspfs*6)" "9" "0000473748" "00024762" "50" "804" "0" "804" "0" "c.804C>A" "r.(?)" "p.(His268Gln)" "6" "0000473839" "00024762" "70" "1373" "0" "1373" "0" "c.1373del" "r.(?)" "p.(Ala458Aspfs*6)" "9" "0000534448" "00024762" "30" "-283" "0" "-283" "0" "c.-283G>T" "r.(?)" "p.(=)" "" "0000534449" "00024762" "10" "-172" "0" "-171" "0" "c.-172_-171dup" "r.(?)" "p.(=)" "" "0000534450" "00024762" "30" "-97" "0" "-97" "0" "c.-97G>A" "r.(?)" "p.(=)" "" "0000534451" "00024762" "50" "-89" "0" "-89" "0" "c.-89C>T" "r.(?)" "p.(=)" "" "0000534452" "00024762" "50" "-71" "0" "-71" "0" "c.-71C>G" "r.(?)" "p.(=)" "" "0000534453" "00024762" "90" "-53" "0" "-53" "0" "c.-53G>C" "r.(?)" "p.(=)" "" "0000534454" "00024762" "50" "-34" "0" "-34" "0" "c.-34G>C" "r.(?)" "p.(=)" "" "0000534455" "00024762" "30" "88" "10" "88" "10" "c.88+10G>A" "r.(=)" "p.(=)" "" "0000534457" "00024762" "50" "173" "0" "173" "0" "c.173C>G" "r.(?)" "p.(Pro58Arg)" "" "0000534458" "00024762" "70" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Thr83Met)" "" "0000534459" "00024762" "30" "250" "-60" "250" "-60" "c.250-60G>A" "r.(=)" "p.(=)" "" "0000534460" "00024762" "30" "250" "-19" "250" "-19" "c.250-19C>T" "r.(=)" "p.(=)" "" "0000534461" "00024762" "90" "286" "0" "286" "0" "c.286G>C" "r.(?)" "p.(Val96Leu)" "" "0000534462" "00024762" "70" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116Gln)" "" "0000534463" "00024762" "30" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Arg116=)" "" "0000534464" "00024762" "30" "363" "0" "363" "0" "c.363C>T" "r.(?)" "p.(Tyr121=)" "" "0000534465" "00024762" "50" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Ala125Thr)" "" "0000534466" "00024762" "10" "405" "0" "405" "0" "c.405G>A" "r.(?)" "p.(Val135=)" "" "0000534467" "00024762" "30" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(Ile139=)" "" "0000534468" "00024762" "10" "429" "236" "429" "236" "c.429+236T>C" "r.(=)" "p.(=)" "" "0000534469" "00024762" "30" "430" "-34" "430" "-34" "c.430-34C>A" "r.(=)" "p.(=)" "" "0000534470" "00024762" "30" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Tyr148=)" "" "0000534471" "00024762" "70" "460" "0" "460" "0" "c.460C>A" "r.(?)" "p.(His154Asn)" "" "0000534472" "00024762" "30" "462" "0" "462" "0" "c.462T>C" "r.(?)" "p.(His154=)" "" "0000534473" "00024762" "10" "541" "74" "541" "74" "c.541+74T>C" "r.(=)" "p.(=)" "" "0000534474" "00024762" "30" "541" "96" "541" "97" "c.541+96_541+97dup" "r.(=)" "p.(=)" "" "0000534475" "00024762" "30" "542" "-17" "542" "-17" "c.542-17C>T" "r.(=)" "p.(=)" "" "0000534476" "00024762" "90" "548" "0" "548" "0" "c.548A>G" "r.(?)" "p.(Asp183Gly)" "" "0000534477" "00024762" "70" "641" "0" "641" "0" "c.641G>T" "r.(?)" "p.(Arg214Ile)" "" "0000534478" "00024762" "30" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Val251Met)" "" "0000534479" "00024762" "30" "775" "19" "775" "19" "c.775+19C>A" "r.(=)" "p.(=)" "" "0000534480" "00024762" "10" "775" "103" "775" "103" "c.775+103C>T" "r.(=)" "p.(=)" "" "0000534481" "00024762" "30" "775" "210" "775" "210" "c.775+210C>T" "r.(=)" "p.(=)" "" "0000534482" "00024762" "10" "775" "388" "775" "388" "c.775+388G>C" "r.(=)" "p.(=)" "" "0000534483" "00024762" "10" "776" "-172" "776" "-172" "c.776-172G>A" "r.(=)" "p.(=)" "" "0000534484" "00024762" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "" "0000534485" "00024762" "30" "843" "0" "843" "0" "c.843T>C" "r.(?)" "p.(Asn281=)" "" "0000534486" "00024762" "70" "858" "0" "861" "0" "c.858_861del" "r.(?)" "p.(Ser286ArgfsTer17)" "" "0000534487" "00024762" "30" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Arg290=)" "" "0000534488" "00024762" "50" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.(Asn318Ser)" "" "0000534489" "00024762" "10" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.(Asn318Ser)" "" "0000534490" "00024762" "50" "955" "0" "955" "0" "c.955A>C" "r.(?)" "p.(Lys319Gln)" "" "0000534491" "00024762" "70" "991" "0" "991" "0" "c.991A>G" "r.(?)" "p.(Lys331Glu)" "" "0000534492" "00024762" "30" "1018" "34" "1018" "34" "c.1018+34A>G" "r.(=)" "p.(=)" "" "0000534493" "00024762" "10" "1018" "108" "1018" "108" "c.1018+108G>A" "r.(=)" "p.(=)" "" "0000534494" "00024762" "10" "1018" "382" "1018" "382" "c.1018+382dup" "r.(=)" "p.(=)" "" "0000534495" "00024762" "10" "1019" "-400" "1019" "-400" "c.1019-400T>C" "r.(=)" "p.(=)" "" "0000534496" "00024762" "70" "1139" "0" "1139" "0" "c.1139T>C" "r.(?)" "p.(Leu380Pro)" "" "0000534497" "00024762" "30" "1139" "15" "1139" "15" "c.1139+15G>A" "r.(=)" "p.(=)" "" "0000534498" "00024762" "30" "1139" "20" "1139" "20" "c.1139+20G>A" "r.(=)" "p.(=)" "" "0000534499" "00024762" "10" "1139" "43" "1139" "43" "c.1139+43T>C" "r.(=)" "p.(=)" "" "0000534500" "00024762" "30" "1139" "369" "1139" "369" "c.1139+369G>A" "r.(=)" "p.(=)" "" "0000534501" "00024762" "10" "1139" "388" "1139" "388" "c.1139+388G>C" "r.(=)" "p.(=)" "" "0000534502" "00024762" "10" "1140" "-370" "1140" "-370" "c.1140-370G>A" "r.(=)" "p.(=)" "" "0000534503" "00024762" "50" "1273" "0" "1273" "0" "c.1273G>A" "r.(?)" "p.(Gly425Ser)" "" "0000534504" "00024762" "10" "1322" "151" "1322" "153" "c.1322+151_1322+153del" "r.(=)" "p.(=)" "" "0000534505" "00024762" "30" "1322" "186" "1322" "186" "c.1322+186del" "r.(=)" "p.(=)" "" "0000534506" "00024762" "10" "1322" "375" "1322" "375" "c.1322+375C>G" "r.(=)" "p.(=)" "" "0000534507" "00024762" "30" "1322" "382" "1322" "382" "c.1322+382A>C" "r.(=)" "p.(=)" "" "0000534508" "00024762" "10" "1322" "483" "1322" "483" "c.1322+483T>G" "r.(=)" "p.(=)" "" "0000534509" "00024762" "10" "1323" "-472" "1323" "-472" "c.1323-472T>C" "r.(=)" "p.(=)" "" "0000534510" "00024762" "10" "1323" "-409" "1323" "-409" "c.1323-409A>C" "r.(=)" "p.(=)" "" "0000534511" "00024762" "30" "1323" "-402" "1323" "-402" "c.1323-402dup" "r.(=)" "p.(=)" "" "0000534512" "00024762" "10" "1323" "-187" "1323" "-187" "c.1323-187A>G" "r.(=)" "p.(=)" "" "0000534513" "00024762" "10" "1323" "-90" "1323" "-90" "c.1323-90T>G" "r.(=)" "p.(=)" "" "0000534514" "00024762" "50" "1325" "0" "1325" "0" "c.1325T>G" "r.(?)" "p.(Val442Gly)" "" "0000534515" "00024762" "50" "1342" "0" "1342" "0" "c.1342G>A" "r.(?)" "p.(Glu448Lys)" "" "0000534516" "00024762" "50" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Gly456Arg)" "" "0000534517" "00024762" "30" "1379" "0" "1379" "0" "c.1379C>T" "r.(?)" "p.(Ala460Val)" "" "0000534518" "00024762" "50" "1427" "5" "1427" "5" "c.1427+5G>C" "r.spl?" "p.?" "" "0000534519" "00024762" "10" "1427" "356" "1427" "356" "c.1427+356A>G" "r.(=)" "p.(=)" "" "0000534520" "00024762" "10" "1428" "-240" "1428" "-240" "c.1428-240C>T" "r.(=)" "p.(=)" "" "0000534522" "00024762" "50" "1428" "0" "1428" "0" "c.1428A>G" "r.(?)" "p.(Ter476TrpextTer40)" "" "0000595805" "00024762" "90" "629" "0" "629" "0" "c.629A>T" "r.(629a>u)" "p.(His210Leu)" "5" "0000611559" "00024762" "50" "-373" "0" "-373" "0" "c.-373A>C" "r.(?)" "p.(=)" "" "0000611560" "00024762" "50" "-367" "0" "-367" "0" "c.-367T>A" "r.(?)" "p.(=)" "" "0000611561" "00024762" "30" "-360" "0" "-360" "0" "c.-360G>T" "r.(?)" "p.(=)" "" "0000611562" "00024762" "30" "-241" "0" "-241" "0" "c.-241G>C" "r.(?)" "p.(=)" "" "0000611563" "00024762" "30" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Ser3Asn)" "" "0000611564" "00024762" "30" "88" "13" "88" "13" "c.88+13C>G" "r.(=)" "p.(=)" "" "0000611565" "00024762" "30" "89" "-414" "89" "-414" "c.89-414G>T" "r.(=)" "p.(=)" "" "0000611566" "00024762" "30" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Ser63=)" "" "0000611567" "00024762" "30" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Ala65Val)" "" "0000611568" "00024762" "10" "249" "105" "249" "105" "c.249+105C>T" "r.(=)" "p.(=)" "" "0000611569" "00024762" "30" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Val92=)" "" "0000611570" "00024762" "50" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" "" "0000611571" "00024762" "50" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Cys)" "" "0000611572" "00024762" "70" "973" "0" "974" "0" "c.973_974del" "r.(?)" "p.(Ser325GlnfsTer28)" "" "0000611573" "00024762" "30" "1019" "-294" "1019" "-294" "c.1019-294A>G" "r.(=)" "p.(=)" "" "0000611574" "00024762" "10" "1140" "-415" "1140" "-415" "c.1140-415G>C" "r.(=)" "p.(=)" "" "0000611575" "00024762" "30" "1322" "176" "1322" "177" "c.1322+176_1322+177del" "r.(=)" "p.(=)" "" "0000611576" "00024762" "30" "1322" "177" "1322" "177" "c.1322+177A>G" "r.(=)" "p.(=)" "" "0000611577" "00024762" "10" "1322" "179" "1322" "179" "c.1322+179G>T" "r.(=)" "p.(=)" "" "0000611578" "00024762" "30" "1322" "183" "1322" "186" "c.1322+183_1322+186dup" "r.(=)" "p.(=)" "" "0000611579" "00024762" "10" "1323" "-298" "1323" "-298" "c.1323-298T>C" "r.(=)" "p.(=)" "" "0000611580" "00024762" "50" "1324" "0" "1324" "0" "c.1324G>T" "r.(?)" "p.(Val442Leu)" "" "0000611581" "00024762" "30" "1799" "0" "1799" "0" "c.*371T>C" "r.(=)" "p.(=)" "" "0000622036" "00024762" "50" "-264" "0" "-264" "0" "c.-264T>A" "r.(?)" "p.(=)" "" "0000622037" "00024762" "30" "-238" "0" "-238" "0" "c.-238G>T" "r.(?)" "p.(=)" "" "0000622038" "00024762" "50" "-222" "0" "-222" "0" "c.-222C>G" "r.(?)" "p.(=)" "" "0000622039" "00024762" "30" "143" "0" "143" "0" "c.143A>T" "r.(?)" "p.(Asp48Val)" "" "0000622040" "00024762" "50" "213" "0" "213" "0" "c.213C>G" "r.(?)" "p.(His71Gln)" "" "0000622041" "00024762" "30" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Arg137Gln)" "" "0000622042" "00024762" "30" "633" "0" "633" "0" "c.633A>G" "r.(?)" "p.(Thr211=)" "" "0000622043" "00024762" "90" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Gly215Arg)" "" "0000622044" "00024762" "50" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250His)" "" "0000622045" "00024762" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "" "0000622046" "00024762" "10" "1019" "-161" "1019" "-161" "c.1019-161G>A" "r.(=)" "p.(=)" "" "0000622047" "00024762" "30" "1056" "0" "1056" "0" "c.1056T>C" "r.(?)" "p.(Thr352=)" "" "0000622048" "00024762" "10" "1139" "734" "1139" "737" "c.1139+734_1139+737del" "r.(=)" "p.(=)" "" "0000622049" "00024762" "30" "1322" "182" "1322" "186" "c.1322+182_1322+186dup" "r.(=)" "p.(=)" "" "0000622050" "00024762" "50" "1401" "0" "1401" "0" "c.1401C>A" "r.(?)" "p.(Asp467Glu)" "" "0000622051" "00024762" "30" "1427" "14" "1427" "14" "c.1427+14G>A" "r.(=)" "p.(=)" "" "0000652466" "00024762" "30" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Asp36Asn)" "" "0000652467" "00024762" "90" "662" "0" "662" "0" "c.662T>C" "r.(?)" "p.(Ile221Thr)" "" "0000652468" "00024762" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Ile252Thr)" "" "0000652469" "00024762" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "" "0000652470" "00024762" "90" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.(Asn318Ser)" "" "0000656061" "00024762" "30" "-382" "0" "-382" "0" "c.-382G>A" "r.(?)" "p.(=)" "" "0000656062" "00024762" "50" "-328" "0" "-328" "0" "c.-328G>A" "r.(?)" "p.(=)" "" "0000656063" "00024762" "50" "-271" "0" "-271" "0" "c.-271dup" "r.(?)" "p.(=)" "" "0000656064" "00024762" "30" "-207" "0" "-207" "0" "c.-207G>A" "r.(?)" "p.(=)" "" "0000656065" "00024762" "50" "-5" "0" "-4" "0" "c.-5_-4del" "r.(?)" "p.(=)" "" "0000656067" "00024762" "30" "342" "0" "342" "0" "c.342G>A" "r.(?)" "p.(Leu114=)" "" "0000656068" "00024762" "10" "775" "280" "775" "280" "c.775+280T>A" "r.(=)" "p.(=)" "" "0000656069" "00024762" "90" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Ala288Thr)" "" "0000656070" "00024762" "50" "1210" "0" "1210" "0" "c.1210A>G" "r.(?)" "p.(Met404Val)" "" "0000656071" "00024762" "30" "1322" "186" "1322" "186" "c.1322+186dup" "r.(=)" "p.(=)" "" "0000660099" "00024762" "50" "898" "0" "898" "0" "c.898G>C" "r.(?)" "p.(Gly300Arg)" "" "0000670006" "00024762" "30" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Asp36Asn)" "" "0000678350" "00024762" "30" "-414" "0" "-414" "0" "c.-414A>G" "r.(?)" "p.(=)" "" "0000678351" "00024762" "10" "89" "-272" "89" "-272" "c.89-272T>A" "r.(=)" "p.(=)" "" "0000678352" "00024762" "50" "262" "0" "262" "0" "c.262T>C" "r.(?)" "p.(Tyr88His)" "" "0000678353" "00024762" "30" "537" "0" "537" "0" "c.537T>A" "r.(?)" "p.(Ile179=)" "" "0000678354" "00024762" "50" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Val208Ile)" "" "0000678355" "00024762" "30" "775" "257" "775" "257" "c.775+257C>T" "r.(=)" "p.(=)" "" "0000678356" "00024762" "50" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Leu274Phe)" "" "0000678357" "00024762" "50" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Phe341Ser)" "" "0000678358" "00024762" "30" "1139" "20" "1139" "20" "c.1139+20G>T" "r.(=)" "p.(=)" "" "0000678359" "00024762" "30" "1323" "-359" "1323" "-359" "c.1323-359T>C" "r.(=)" "p.(=)" "" "0000678360" "00024762" "30" "1427" "9" "1427" "9" "c.1427+9T>A" "r.(=)" "p.(=)" "" "0000678361" "00024762" "30" "1427" "18" "1427" "18" "c.1427+18A>C" "r.(=)" "p.(=)" "" "0000678362" "00024762" "30" "1428" "-6" "1428" "-6" "c.1428-6del" "r.(=)" "p.(=)" "" "0000690224" "00024762" "30" "249" "78" "249" "78" "c.249+78A>G" "r.(=)" "p.(=)" "" "0000690225" "00024762" "30" "429" "335" "429" "335" "c.429+335C>A" "r.(=)" "p.(=)" "" "0000690226" "00024762" "30" "430" "-30" "430" "-30" "c.430-30A>C" "r.(=)" "p.(=)" "" "0000690227" "00024762" "70" "497" "0" "497" "0" "c.497G>T" "r.(?)" "p.(Gly166Val)" "" "0000690228" "00024762" "70" "755" "0" "755" "0" "c.755T>A" "r.(?)" "p.(Ile252Asn)" "" "0000690229" "00024762" "10" "776" "-540" "776" "-540" "c.776-540C>T" "r.(=)" "p.(=)" "" "0000690230" "00024762" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "" "0000690231" "00024762" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "" "0000690232" "00024762" "30" "1018" "334" "1018" "334" "c.1018+334C>G" "r.(=)" "p.(=)" "" "0000690233" "00024762" "30" "1140" "-386" "1140" "-386" "c.1140-386A>G" "r.(=)" "p.(=)" "" "0000690234" "00024762" "30" "1140" "-317" "1140" "-317" "c.1140-317T>C" "r.(=)" "p.(=)" "" "0000690235" "00024762" "30" "1155" "0" "1155" "0" "c.1155A>T" "r.(?)" "p.(Thr385=)" "" "0000690236" "00024762" "30" "1323" "-402" "1323" "-402" "c.1323-402del" "r.(=)" "p.(=)" "" "0000690237" "00024762" "30" "1428" "-361" "1428" "-361" "c.1428-361dup" "r.(=)" "p.(=)" "" "0000690238" "00024762" "30" "1428" "-207" "1428" "-207" "c.1428-207del" "r.(=)" "p.(=)" "" "0000690239" "00024762" "30" "1428" "-127" "1428" "-127" "c.1428-127T>C" "r.(=)" "p.(=)" "" "0000721906" "00024762" "30" "-185" "0" "-185" "0" "c.-185A>T" "r.(?)" "p.(=)" "" "0000721907" "00024762" "30" "-165" "0" "-165" "0" "c.-165C>T" "r.(?)" "p.(=)" "" "0000721908" "00024762" "50" "-159" "0" "-159" "0" "c.-159C>T" "r.(?)" "p.(=)" "" "0000721909" "00024762" "30" "88" "25" "88" "25" "c.88+25T>A" "r.(=)" "p.(=)" "" "0000721910" "00024762" "30" "88" "27" "88" "27" "c.88+27C>G" "r.(=)" "p.(=)" "" "0000721911" "00024762" "30" "111" "0" "111" "0" "c.111C>T" "r.(?)" "p.(Ile37=)" "" "0000721912" "00024762" "50" "460" "0" "460" "0" "c.460C>A" "r.(?)" "p.(His154Asn)" "" "0000721913" "00024762" "30" "491" "0" "491" "0" "c.491C>T" "r.(?)" "p.(Ala164Val)" "" "0000721914" "00024762" "30" "541" "17" "541" "17" "c.541+17G>A" "r.(=)" "p.(=)" "" "0000721915" "00024762" "30" "541" "19" "541" "19" "c.541+19T>G" "r.(=)" "p.(=)" "" "0000721916" "00024762" "30" "585" "0" "585" "0" "c.585G>A" "r.(?)" "p.(Pro195=)" "" "0000721917" "00024762" "30" "776" "-83" "776" "-83" "c.776-83C>G" "r.(=)" "p.(=)" "" "0000721918" "00024762" "30" "776" "-34" "776" "-34" "c.776-34C>T" "r.(=)" "p.(=)" "" "0000721919" "00024762" "90" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Met328Ile)" "" "0000721920" "00024762" "70" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333Cys)" "" "0000721921" "00024762" "30" "1018" "284" "1018" "284" "c.1018+284A>C" "r.(=)" "p.(=)" "" "0000721922" "00024762" "30" "1018" "295" "1018" "295" "c.1018+295C>A" "r.(=)" "p.(=)" "" "0000721923" "00024762" "10" "1019" "-533" "1019" "-533" "c.1019-533A>C" "r.(=)" "p.(=)" "" "0000721924" "00024762" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Thr358=)" "" "0000721925" "00024762" "50" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Val370Met)" "" "0000721926" "00024762" "10" "1139" "470" "1139" "470" "c.1139+470T>G" "r.(=)" "p.(=)" "" "0000721927" "00024762" "10" "1139" "510" "1139" "510" "c.1139+510A>G" "r.(=)" "p.(=)" "" "0000721928" "00024762" "30" "1322" "177" "1322" "177" "c.1322+177A>T" "r.(=)" "p.(=)" "" "0000721929" "00024762" "30" "1322" "177" "1322" "177" "c.1322+177del" "r.(=)" "p.(=)" "" "0000721930" "00024762" "30" "1323" "-405" "1323" "-405" "c.1323-405A>C" "r.(=)" "p.(=)" "" "0000721931" "00024762" "50" "1390" "0" "1390" "0" "c.1390A>G" "r.(?)" "p.(Lys464Glu)" "" "0000721932" "00024762" "30" "1428" "-337" "1428" "-337" "c.1428-337del" "r.(=)" "p.(=)" "" "0000721933" "00024762" "30" "1428" "-297" "1428" "-297" "c.1428-297C>T" "r.(=)" "p.(=)" "" "0000721934" "00024762" "10" "1428" "-80" "1428" "-80" "c.1428-80T>A" "r.(=)" "p.(=)" "" "0000721935" "00024762" "30" "1649" "0" "1649" "0" "c.*221C>T" "r.(=)" "p.(=)" "" "0000803578" "00024762" "50" "-6" "0" "-6" "0" "c.-6C>T" "r.(?)" "p.(=)" "" "0000803579" "00024762" "90" "264" "0" "264" "0" "c.264T>A" "r.(?)" "p.(Tyr88*)" "" "0000803580" "00024762" "50" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Ala98Thr)" "" "0000803581" "00024762" "30" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(Asn152=)" "" "0000803582" "00024762" "50" "525" "0" "525" "0" "c.525A>G" "r.(?)" "p.(Lys175=)" "" "0000803583" "00024762" "50" "542" "-308" "542" "-308" "c.542-308C>T" "r.(=)" "p.(=)" "" "0000803584" "00024762" "70" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Arg197His)" "" "0000803585" "00024762" "30" "1139" "14" "1139" "14" "c.1139+14G>T" "r.(=)" "p.(=)" "" "0000803586" "00024762" "10" "1428" "-328" "1428" "-328" "c.1428-328T>C" "r.(=)" "p.(=)" "" "0000846822" "00024762" "90" "983" "0" "983" "0" "c.983T>C" "r.(983u>c)" "p.(Met328Thr)" "6" "0000846856" "00024762" "90" "1322" "15" "1322" "15" "c.1322+15T>G" "r.spl?" "p.?" "8" "0000846857" "00024762" "90" "686" "0" "686" "0" "c.686A>T" "r.(686a>u)" "p.(His229Leu)" "5" "0000846858" "00024762" "90" "856" "0" "856" "0" "c.856A>G" "r.(856a>g)" "p.(Ser286Gly)" "6" "0000851883" "00024762" "50" "-10" "0" "-10" "0" "c.-10G>A" "r.(?)" "p.(=)" "" "0000851884" "00024762" "50" "166" "0" "166" "0" "c.166C>A" "r.(?)" "p.(Leu56Ile)" "" "0000851885" "00024762" "30" "798" "0" "798" "0" "c.798C>T" "r.(?)" "p.(Cys266=)" "" "0000851886" "00024762" "90" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Asp277Asn)" "" "0000851887" "00024762" "30" "1019" "-133" "1019" "-133" "c.1019-133dup" "r.(=)" "p.(=)" "" "0000851888" "00024762" "50" "1322" "180" "1322" "180" "c.1322+180G>T" "r.(=)" "p.(=)" "" "0000851889" "00024762" "30" "1344" "0" "1344" "0" "c.1344G>A" "r.(?)" "p.(Glu448=)" "" "0000861162" "00024762" "50" "-343" "0" "-343" "0" "c.-343C>G" "r.(?)" "p.(=)" "" "0000861163" "00024762" "50" "-282" "0" "-282" "0" "c.-282G>T" "r.(?)" "p.(=)" "" "0000861164" "00024762" "50" "-179" "0" "-179" "0" "c.-179G>T" "r.(?)" "p.(=)" "" "0000861165" "00024762" "50" "-123" "0" "-123" "0" "c.-123A>G" "r.(?)" "p.(=)" "" "0000861166" "00024762" "50" "59" "0" "59" "0" "c.59C>T" "r.(?)" "p.(Ala20Val)" "" "0000861167" "00024762" "30" "88" "194" "88" "194" "c.88+194C>A" "r.(=)" "p.(=)" "" "0000861168" "00024762" "50" "97" "0" "97" "0" "c.97G>C" "r.(?)" "p.(Asp33His)" "" "0000861170" "00024762" "70" "117" "0" "117" "0" "c.117T>G" "r.(?)" "p.(Ser39Arg)" "" "0000861171" "00024762" "50" "391" "0" "391" "0" "c.391G>T" "r.(?)" "p.(Val131Leu)" "" "0000861172" "00024762" "50" "439" "0" "439" "0" "c.439A>C" "r.(?)" "p.(Asn147His)" "" "0000861173" "00024762" "50" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.(Asn318Ser)" "" "0000861174" "00024762" "30" "1019" "-108" "1019" "-108" "c.1019-108G>A" "r.(=)" "p.(=)" "" "0000861175" "00024762" "30" "1323" "-406" "1323" "-402" "c.1323-406_1323-402del" "r.(=)" "p.(=)" "" "0000861176" "00024762" "50" "1427" "436" "1427" "436" "c.1427+436A>C" "r.(=)" "p.(=)" "" "0000861177" "00024762" "10" "1428" "-11" "1428" "-11" "c.1428-11C>T" "r.(=)" "p.(=)" "" "0000868744" "00024762" "90" "924" "0" "925" "0" "c.924_925insG" "r.(?)" "p.(Arg309Alafs*8)" "" "0000868745" "00024762" "70" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ala98Val)" "" "0000868746" "00024762" "70" "1010" "0" "1010" "0" "c.1010C>G" "r.(?)" "p.(Pro337Arg)" "" "0000868747" "00024762" "70" "538" "0" "538" "0" "c.538A>G" "r.(?)" "p.(Thr180Ala)" "" "0000868748" "00024762" "90" "899" "0" "917" "0" "c.899_917dup" "r.(?)" "p.(Lys307Alafs*6)" "" "0000868749" "00024762" "90" "899" "0" "921" "0" "c.899_921dup" "r.(?)" "p.(Asn308Glyfs*4)" "" "0000868750" "00024762" "90" "775" "1" "775" "1" "c.775+1G>A" "r.spl" "p.?" "" "0000888270" "00024762" "50" "-300" "0" "-300" "0" "c.-300G>A" "r.(?)" "p.(=)" "" "0000888271" "00024762" "50" "-264" "0" "-264" "0" "c.-264T>C" "r.(?)" "p.(=)" "" "0000888272" "00024762" "50" "-93" "0" "-93" "0" "c.-93C>T" "r.(?)" "p.(=)" "" "0000888273" "00024762" "30" "88" "298" "88" "298" "c.88+298G>A" "r.(=)" "p.(=)" "" "0000888274" "00024762" "70" "90" "0" "91" "0" "c.90_91insG" "r.(?)" "p.(Arg31Glufs*10)" "" "0000888275" "00024762" "30" "250" "-16" "250" "-16" "c.250-16G>T" "r.(=)" "p.(=)" "" "0000888276" "00024762" "90" "286" "0" "286" "0" "c.286G>C" "r.(?)" "p.(Val96Leu)" "" "0000888277" "00024762" "30" "498" "0" "498" "0" "c.498C>T" "r.(?)" "p.(Gly166=)" "" "0000888278" "00024762" "30" "540" "0" "540" "0" "c.540T>C" "r.(?)" "p.(Thr180=)" "" "0000888279" "00024762" "50" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Gly181Ser)" "" "0000888280" "00024762" "90" "547" "0" "547" "0" "c.547G>C" "r.(?)" "p.(Asp183His)" "" "0000888281" "00024762" "50" "572" "0" "572" "0" "c.572A>T" "r.(?)" "p.(Tyr191Phe)" "" "0000888282" "00024762" "50" "679" "0" "679" "0" "c.679G>C" "r.(?)" "p.(Val227Leu)" "" "0000888283" "00024762" "50" "752" "0" "752" "0" "c.752T>A" "r.(?)" "p.(Val251Glu)" "" "0000888284" "00024762" "90" "765" "0" "766" "0" "c.765_766del" "r.(?)" "p.(Gly256Thrfs*26)" "" "0000888285" "00024762" "30" "775" "14" "775" "14" "c.775+14A>C" "r.(=)" "p.(=)" "" "0000888286" "00024762" "30" "775" "19" "775" "19" "c.775+19C>T" "r.(=)" "p.(=)" "" "0000888287" "00024762" "90" "891" "0" "891" "0" "c.891dup" "r.(?)" "p.(Glu298*)" "" "0000888288" "00024762" "30" "903" "0" "903" "0" "c.903C>G" "r.(?)" "p.(Leu301=)" "" "0000888289" "00024762" "50" "993" "0" "993" "0" "c.993G>C" "r.(?)" "p.(Lys331Asn)" "" "0000888290" "00024762" "50" "1060" "0" "1060" "0" "c.1060A>T" "r.(?)" "p.(Ser354Cys)" "" "0000888291" "00024762" "30" "1113" "0" "1113" "0" "c.1113C>T" "r.(?)" "p.(Ala371=)" "" "0000888292" "00024762" "50" "1119" "0" "1119" "0" "c.1119T>G" "r.(?)" "p.(Ser373Arg)" "" "0000888293" "00024762" "50" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Glu382Lys)" "" "0000888294" "00024762" "50" "1175" "0" "1175" "0" "c.1175T>C" "r.(?)" "p.(Leu392Pro)" "" "0000888295" "00024762" "30" "1188" "0" "1188" "0" "c.1188G>A" "r.(?)" "p.(Glu396=)" "" "0000888296" "00024762" "30" "1322" "15" "1322" "15" "c.1322+15T>A" "r.(=)" "p.(=)" "" "0000888297" "00024762" "30" "1323" "-405" "1323" "-402" "c.1323-405_1323-402del" "r.(=)" "p.(=)" "" "0000888298" "00024762" "30" "1427" "7" "1427" "7" "c.1427+7A>G" "r.(=)" "p.(=)" "" "0000888299" "00024762" "30" "1883" "0" "1883" "0" "c.*455C>T" "r.(=)" "p.(=)" "" "0000909164" "00024762" "70" "" "0" "" "0" "c.-370_*1949{0}" "r.0" "p.0" "" "0000909165" "00024762" "70" "" "0" "" "0" "c.-370_*1949{0}" "r.0" "p.0" "" "0000909166" "00024762" "70" "" "0" "" "0" "c.-370_*1949{0}" "r.0" "p.0" "" "0000909167" "00024762" "70" "" "0" "" "0" "c.-370_*1949{0}" "r.0" "p.0" "" "0000912931" "00024762" "50" "-159" "0" "-157" "0" "c.-159_-157dup" "r.(?)" "p.(=)" "" "0000912932" "00024762" "50" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Trp)" "" "0000912933" "00024762" "70" "662" "0" "662" "0" "c.662T>C" "r.(?)" "p.(Ile221Thr)" "" "0000912934" "00024762" "30" "776" "-250" "776" "-245" "c.776-250_776-245del" "r.(=)" "p.(=)" "" "0000924855" "00024762" "50" "-191" "0" "-191" "0" "c.-191A>T" "r.(?)" "p.(=)" "" "0000924856" "00024762" "50" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(Tyr100Cys)" "" "0000924857" "00024762" "50" "347" "0" "347" "0" "c.347G>C" "r.(?)" "p.(Arg116Pro)" "" "0000924858" "00024762" "50" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ala125Val)" "" "0000924859" "00024762" "90" "835" "0" "835" "0" "c.835C>G" "r.(?)" "p.(Leu279Val)" "" "0000929434" "00024762" "50" "-345" "0" "-345" "0" "c.-345C>G" "r.(?)" "p.(=)" "" "0000929435" "00024762" "70" "46" "0" "47" "0" "c.46_47del" "r.(?)" "p.(Gln16Glufs*24)" "" "0000929436" "00024762" "50" "655" "0" "655" "0" "c.655C>G" "r.(?)" "p.(Arg219Gly)" "" "0000934960" "00024762" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Gly215Glu)" "" "0000934961" "00024762" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Gly81Asp)" "" "0000934963" "00024762" "70" "856" "0" "856" "0" "c.856A>C" "r.(?)" "p.(Ser286Arg)" "" "0000949056" "00024762" "50" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "" "0000949057" "00024762" "30" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(=)" "" "0000949058" "00024762" "30" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(=)" "" "0000949059" "00024762" "90" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Asp183Asn)" "" "0000949060" "00024762" "30" "775" "212" "775" "212" "c.775+212G>A" "r.(=)" "p.(=)" "" "0000964944" "00024762" "50" "-360" "0" "-360" "0" "c.-360G>A" "r.(?)" "p.(=)" "" "0000964945" "00024762" "50" "-175" "0" "-175" "0" "c.-175C>T" "r.(?)" "p.(=)" "" "0000964946" "00024762" "10" "88" "40" "88" "40" "c.88+40G>A" "r.(=)" "p.(=)" "" "0000964947" "00024762" "50" "89" "-14" "89" "-14" "c.89-14T>A" "r.(=)" "p.(=)" "" "0000964948" "00024762" "50" "148" "0" "148" "0" "c.148G>C" "r.(?)" "p.(Ala50Pro)" "" "0000964949" "00024762" "10" "249" "329" "249" "329" "c.249+329G>A" "r.(=)" "p.(=)" "" "0000964950" "00024762" "50" "260" "0" "260" "0" "c.260T>A" "r.(?)" "p.(Met87Lys)" "" "0000964951" "00024762" "50" "410" "0" "410" "0" "c.410G>T" "r.(?)" "p.(Arg137Leu)" "" "0000964952" "00024762" "30" "429" "19" "429" "19" "c.429+19G>A" "r.(=)" "p.(=)" "" "0000964953" "00024762" "70" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Arg197His)" "" "0000964954" "00024762" "30" "775" "364" "775" "364" "c.775+364A>C" "r.(=)" "p.(=)" "" "0000964955" "00024762" "70" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "" "0000964956" "00024762" "10" "1019" "-187" "1019" "-187" "c.1019-187C>T" "r.(=)" "p.(=)" "" "0000964957" "00024762" "30" "1019" "-65" "1019" "-62" "c.1019-65_1019-62del" "r.(=)" "p.(=)" "" "0000964958" "00024762" "50" "1300" "0" "1300" "0" "c.1300A>C" "r.(?)" "p.(Lys434Gln)" "" "0000964959" "00024762" "10" "1322" "177" "1322" "179" "c.1322+177_1322+179del" "r.(=)" "p.(=)" "" "0000978154" "00024762" "30" "-399" "0" "-399" "0" "c.-399A>C" "r.(?)" "p.(=)" "" "0000978155" "00024762" "50" "-107" "0" "-107" "0" "c.-107G>C" "r.(?)" "p.(=)" "" "0000978156" "00024762" "50" "149" "0" "149" "0" "c.149C>G" "r.(?)" "p.(Ala50Gly)" "" "0000978157" "00024762" "50" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Gly59Arg)" "" "0000978158" "00024762" "70" "727" "0" "727" "0" "c.727T>A" "r.(?)" "p.(Cys243Ser)" "" "0000978159" "00024762" "30" "1019" "-19" "1019" "-19" "c.1019-19C>T" "r.(=)" "p.(=)" "" "0000978160" "00024762" "30" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(=)" "" "0000997087" "00024762" "50" "-284" "0" "-284" "0" "c.-284A>T" "r.(?)" "p.(=)" "" "0000997088" "00024762" "50" "-38" "0" "-38" "0" "c.-38C>G" "r.(?)" "p.(=)" "" "0000997089" "00024762" "50" "157" "0" "157" "0" "c.157A>G" "r.(?)" "p.(Thr53Ala)" "" "0000997090" "00024762" "50" "249" "0" "249" "0" "c.249G>A" "r.(?)" "p.(=)" "" "0000997091" "00024762" "30" "541" "16" "541" "16" "c.541+16C>T" "r.(=)" "p.(=)" "" "0001014433" "00024762" "30" "250" "-281" "250" "-281" "c.250-281A>C" "r.(=)" "p.(=)" "" "0001014434" "00024762" "50" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "" "0001025507" "00024762" "50" "423" "0" "423" "0" "c.423G>C" "r.(?)" "p.(Trp141Cys)" "" "0001025508" "00024762" "30" "1018" "4" "1018" "4" "c.1018+4G>C" "r.spl?" "p.?" "" "0001036903" "00024762" "50" "-346" "0" "-346" "0" "c.-346C>T" "r.(?)" "p.(=)" "" "0001036904" "00024762" "30" "250" "-8" "250" "-6" "c.250-8_250-6del" "r.(=)" "p.(=)" "" "0001036905" "00024762" "50" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Arg197Cys)" "" "0001036906" "00024762" "70" "701" "0" "701" "0" "c.701C>T" "r.(?)" "p.(Pro234Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000231673" "0000473747" "0000231674" "0000473748" "0000231674" "0000473839" "0000265219" "0000595805" "0000295777" "0000652466" "0000295778" "0000652467" "0000295779" "0000652468" "0000295780" "0000652469" "0000295781" "0000652470" "0000297497" "0000660099" "0000306318" "0000670006" "0000409620" "0000846822" "0000409659" "0000846856" "0000409660" "0000846857" "0000409661" "0000846858" "0000411573" "0000868744" "0000411574" "0000868745" "0000411574" "0000868746" "0000411575" "0000868747" "0000411576" "0000868748" "0000411577" "0000868749" "0000411578" "0000868750" "0000429582" "0000909164" "0000429583" "0000909165" "0000429584" "0000909166" "0000429585" "0000909167"