### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LRP2)
# 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}}"
"LRP2" "low density lipoprotein receptor-related protein 2" "2" "q31.1" "unknown" "NG_012634.1" "UD_139287994779" "" "https://www.LOVD.nl/LRP2" "" "1" "6694" "4036" "600073" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/LRP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2014-09-25 00:00:00" "00006" "2017-10-02 22:34:57" "00000" "2025-07-08 13:22:38"
## 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}}"
"00023962" "LRP2" "low density lipoprotein receptor-related protein 2" "002" "NM_004525.2" "" "NP_004516.2" "" "" "" "-213" "15522" "13968" "169362612" "169127109" "00006" "2014-09-25 22:41:29" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00569" "DBS" "Donnai-Barrow syndrome (DBS)" "AR" "222448" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"LRP2" "00139"
"LRP2" "00569"
## Individuals ## Do not remove or alter this header ##
## Count = 31
"{{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}}"
"00050386" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00050441" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00131892" "" "" "" "1" "" "02266" "" "" "M" "no" "Italy" ">69y" "0" "" "" "" ""
"00131950" "" "" "" "1" "" "02272" "" "" "M" "?" "Italy" "" "0" "" "" "African" "Case 2"
"00183072" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "23033978-Trio81"
"00275664" "" "" "" "4" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMR124Pat1"
"00275665" "" "" "00275664" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMR124Pat2"
"00292351" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292352" "" "" "" "155" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292353" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292354" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292355" "" "" "" "130" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292356" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292357" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292358" "" "" "" "72" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292359" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292360" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292361" "" "" "" "128" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292362" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292363" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304712" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304713" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304714" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304715" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00328290" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000161"
"00390300" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000161"
"00426930" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 33, individual 39" "F" "" "" "" "0" "" "" "" "33_39"
"00427731" "" "" "" "1" "" "00006" "{PMID:Palmer 2022:36385166}" "family, 1 affected" "M" "" "" "" "0" "" "" "Europe;white" "C3"
"00448223" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat125"
"00453752" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV855"
"00453762" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV958"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 31
"{{individualid}}" "{{diseaseid}}"
"00050386" "00198"
"00050441" "00198"
"00131892" "00569"
"00131950" "00569"
"00183072" "00139"
"00275664" "00139"
"00275665" "00139"
"00292351" "00198"
"00292352" "00198"
"00292353" "00198"
"00292354" "00198"
"00292355" "00198"
"00292356" "00198"
"00292357" "00198"
"00292358" "00198"
"00292359" "00198"
"00292360" "00198"
"00292361" "00198"
"00292362" "00198"
"00292363" "00198"
"00304712" "00198"
"00304713" "00198"
"00304714" "00198"
"00304715" "00198"
"00328290" "04214"
"00390300" "04214"
"00426930" "04214"
"00427731" "05611"
"00448223" "00198"
"00453752" "00152"
"00453762" "00152"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00152, 00198, 00569, 04214, 05611
## Count = 14
"{{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}}"
"0000036998" "00198" "00050386" "00006" "Isolated (sporadic)" "" "intellectual disability, postnatal microcephaly, hypoplasia of the corpus callosum, infantile axial hypotonia, broad-based gait, paroxysmal dyskinesia, generalized tonic-clonic seizures, abnormality of vision evoked potentials, congenital strabismus, hypermetropia" "" "" "" "" "" "" "" "" "" "" ""
"0000037053" "00198" "00050441" "00006" "Isolated (sporadic)" "" "intellectual disability, hearing impairment, hip dislocation, seizures, constipation, stenosis of the external auditory canal, preauricular skin tag, hypoplasia of teeth, omphalocele, postaxial polydactyly (hands), hypertelorism, blepharophimosis, clitoromegaly, talipes equinovarus, joint hypermobility, long clavicles, gastroesophageal reflux, short stature" "" "" "" "" "" "" "" "" "" "" ""
"0000104147" "00569" "00131892" "02266" "Familial, autosomal recessive" "69y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000104168" "00569" "00131950" "02272" "Familial, autosomal recessive" "" "Hypertelorism (HP:0000316), Broad forehead (HP:0000337), Parietal bossing (HP:0000242), Cryptorchidism (HP:0000028), Low-molecular-weight proteinuria (HP:0003126), Hypercalciuria (HP:0002150), Severe Myopia (HP:0011003), Retinal detachment (HP:0000541)" "" "" "" "" "" "" "" "" "" "" ""
"0000143825" "00139" "00183072" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" ""
"0000210275" "00139" "00275664" "00006" "Familial, autosomal recessive" "12y" "OFC 50cm; IQ 40, moderate intellectual disability (HP:0002342); slightly aggressive behavior, mild" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000210276" "00139" "00275665" "00006" "Familial, autosomal recessive" "9y" "OFC 50.5cm; IQ 40, moderate intellectual disability (HP:0002342); delay in ambulation" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000246517" "04214" "00328290" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000283838" "04214" "00390300" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000318068" "04214" "00426930" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" ""
"0000318745" "05611" "00427731" "00006" "Isolated (sporadic)" "13y" "see paper; ..., moderate intellectual disability; neonatal hypotonia; bilateral sensorineural hearing loss requiring hearing aids; optic nerve hypoplasia; wide-based gait but not frankly ataxic, tight calves bilaterally, wears AFOs to ankles; delayed speech; autism spectrum disorder, rigidity, anger outbursts; <1y-onset seizures, undefined seizure disorder, diagnosed on basis of abnormal posturing as a neonate with persistently abnormal EEG, MRI brain abnormal, no proven seizures clinically since infancy; EEG 7y-abundant epileptiform discharges over left posterior quadrant, also with slowing noted over the left posterior head region, epileptiform discharges showed significant sleep activation; MRI brain persistent hyperintense signals neurohypophysis, V shaped sella turcica with persistent craniopharyngeal canal, marked medullary expansion skull bones, marginal enlargement right lateral ventricle, persistent and stable prominence bilateral frontal extra-axial spaces and hyperintense signal abnormalities periventricular white matter, asymmetrical (RT" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.169166027C>T" "" "pathogenic" ""
"0000079366" "21" "90" "2" "170068598" "170068598" "subst" "0.000992039" "00006" "LRP2_000001" "g.170068598C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.169212088C>T" "" "pathogenic" ""
"0000079647" "11" "90" "2" "170088242" "170088242" "subst" "0.0011801" "00006" "LRP2_000002" "g.170088242G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.169231732G>A" "" "pathogenic" ""
"0000079656" "11" "90" "2" "170103472" "170103472" "subst" "0.00388083" "00006" "LRP2_000003" "g.170103472G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.169246962G>A" "" "pathogenic" ""
"0000221909" "0" "70" "2" "170175340" "170175340" "subst" "0" "02266" "LRP2_000006" "g.170175340A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169318830A>T" "" "likely pathogenic" ""
"0000221910" "0" "70" "2" "170063503" "170063503" "subst" "8.12817E-6" "02266" "LRP2_000005" "g.170063503G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169206993G>A" "" "likely pathogenic" ""
"0000221974" "0" "70" "2" "170062080" "170062080" "subst" "0" "02272" "LRP2_000007" "g.170062080G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.169205570G>A" "" "likely pathogenic" ""
"0000248224" "0" "10" "2" "170013904" "170013904" "subst" "0.00831785" "02325" "LRP2_000021" "g.170013904A>C" "" "" "" "LRP2(NM_004525.3):c.11996T>G (p.V3999G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169157394A>C" "" "benign" ""
"0000248499" "0" "10" "2" "170092395" "170092395" "subst" "0.332499" "02325" "LRP2_000071" "g.170092395A>G" "" "" "" "LRP2(NM_004525.3):c.4875T>C (p.C1625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169235885A>G" "" "benign" ""
"0000248983" "0" "10" "2" "170099895" "170099895" "subst" "0.548523" "02325" "LRP2_000081" "g.170099895A>C" "" "" "" "LRP2(NM_004525.3):c.3550+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169243385A>C" "" "benign" ""
"0000249424" "0" "30" "2" "170063372" "170063372" "subst" "0.000840957" "02325" "LRP2_000056" "g.170063372A>T" "" "" "" "LRP2(NM_004525.3):c.6858T>A (p.F2286L, p.(Phe2286Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169206862A>T" "" "likely benign" ""
"0000249426" "0" "30" "2" "170136101" "170136101" "subst" "0.000458509" "02325" "LRP2_000099" "g.170136101A>T" "" "" "" "LRP2(NM_004525.3):c.1346T>A (p.F449Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169279591A>T" "" "likely benign" ""
"0000249474" "0" "30" "2" "170062946" "170062946" "subst" "9.34405E-5" "02325" "LRP2_000054" "g.170062946A>C" "" "" "" "LRP2(NM_004525.3):c.7284T>G (p.S2428R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169206436A>C" "" "likely benign" ""
"0000249486" "0" "30" "2" "170060696" "170060696" "subst" "9.34503E-5" "02325" "LRP2_000050" "g.170060696A>G" "" "" "" "LRP2(NM_004525.3):c.7801T>C (p.Y2601H, p.(Tyr2601His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169204186A>G" "" "likely benign" ""
"0000250927" "0" "10" "2" "170013904" "170013904" "subst" "0.00831785" "02326" "LRP2_000021" "g.170013904A>C" "" "" "" "LRP2(NM_004525.3):c.11996T>G (p.V3999G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169157394A>C" "" "benign" ""
"0000254323" "0" "30" "2" "170097790" "170097790" "subst" "2.03092E-5" "01943" "LRP2_000076" "g.170097790A>G" "" "" "" "LRP2(NM_004525.3):c.3753T>C (p.D1251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169241280A>G" "" "likely benign" ""
"0000255136" "0" "30" "2" "169989127" "169989127" "subst" "0.00189326" "01943" "LRP2_000010" "g.169989127A>G" "" "" "" "LRP2(NM_004525.3):c.13685T>C (p.V4562A, p.(Val4562Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169132617A>G" "" "likely benign" ""
"0000255193" "0" "30" "2" "170009481" "170009481" "subst" "0.00115057" "01943" "LRP2_000019" "g.170009481A>T" "" "" "" "LRP2(NM_004525.2):c.12296-7T>A (p.(=)), LRP2(NM_004525.3):c.12296-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169152971A>T" "" "likely benign" ""
"0000282287" "0" "10" "2" "170032989" "170032989" "subst" "0.482578" "02325" "LRP2_000032" "g.170032989C>T" "" "" "" "LRP2(NM_004525.3):c.10503G>A (p.Q3501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169176479C>T" "" "benign" ""
"0000282288" "0" "50" "2" "170030533" "170030533" "subst" "0.00014219" "02325" "LRP2_000030" "g.170030533G>A" "" "" "" "LRP2(NM_004525.3):c.10910C>T (p.(Pro3637Leu), p.P3637L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169174023G>A" "" "VUS" ""
"0000282289" "0" "30" "2" "170030506" "170030506" "subst" "0.00242955" "02325" "LRP2_000028" "g.170030506C>T" "" "" "" "LRP2(NM_004525.2):c.10937G>A (p.(Arg3646His)), LRP2(NM_004525.3):c.10937G>A (p.R3646H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169173996C>T" "" "likely benign" ""
"0000282290" "0" "30" "2" "170027191" "170027191" "subst" "0.000426784" "02325" "LRP2_000025" "g.170027191G>C" "" "" "" "LRP2(NM_004525.3):c.11264-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169170681G>C" "" "likely benign" ""
"0000282291" "0" "30" "2" "170026249" "170026249" "subst" "1.2189E-5" "02325" "LRP2_000024" "g.170026249G>A" "" "" "" "LRP2(NM_004525.3):c.11460C>T (p.S3820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169169739G>A" "" "likely benign" ""
"0000282292" "0" "50" "2" "170025079" "170025079" "subst" "3.25005E-5" "02325" "LRP2_000022" "g.170025079C>T" "" "" "" "LRP2(NM_004525.3):c.11605G>A (p.D3869N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169168569C>T" "" "VUS" ""
"0000282293" "0" "10" "2" "170010985" "170010985" "subst" "0.761343" "02325" "LRP2_000020" "g.170010985T>C" "" "" "" "LRP2(NM_004525.3):c.12280A>G (p.K4094E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169154475T>C" "" "benign" ""
"0000282294" "0" "10" "2" "170003432" "170003432" "subst" "0.726147" "02325" "LRP2_000016" "g.170003432T>G" "" "" "" "LRP2(NM_004525.3):c.12628A>C (p.I4210L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169146922T>G" "" "benign" ""
"0000282295" "0" "10" "2" "169997051" "169997051" "subst" "0.693128" "02325" "LRP2_000014" "g.169997051G>A" "" "" "" "LRP2(NM_004525.3):c.13113C>T (p.I4371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169140541G>A" "" "benign" ""
"0000282296" "0" "50" "2" "169996053" "169996053" "subst" "0" "02325" "LRP2_000012" "g.169996053T>C" "" "" "" "LRP2(NM_004525.3):c.13267A>G (p.T4423A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169139543T>C" "" "VUS" ""
"0000282297" "0" "10" "2" "170129528" "170129528" "subst" "0.626264" "02325" "LRP2_000096" "g.170129528G>A" "" "" "" "LRP2(NM_004525.3):c.2025C>T (p.V675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169273018G>A" "" "benign" ""
"0000282298" "0" "10" "2" "170127400" "170127401" "del" "0" "02325" "LRP2_000094" "g.170127400_170127401del" "" "" "" "LRP2(NM_004525.3):c.2320+32_2320+33delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169270890_169270891del" "" "benign" ""
"0000282299" "0" "10" "2" "170175334" "170175334" "subst" "0.271878" "02325" "LRP2_000109" "g.170175334T>C" "" "" "" "LRP2(NM_004525.3):c.248A>G (p.N83S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169318824T>C" "" "benign" ""
"0000282300" "0" "10" "2" "170103472" "170103472" "subst" "0.00388083" "02325" "LRP2_000003" "g.170103472G>A" "" "" "" "LRP2(NM_004525.3):c.2933C>T (p.T978M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169246962G>A" "" "benign" ""
"0000282301" "0" "10" "2" "170103351" "170103351" "subst" "0.501422" "02325" "LRP2_000087" "g.170103351G>T" "" "" "" "LRP2(NM_004525.3):c.3054C>A (p.T1018=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169246841G>T" "" "benign" ""
"0000282302" "0" "10" "2" "170103336" "170103336" "subst" "0.53788" "02325" "LRP2_000086" "g.170103336T>C" "" "" "" "LRP2(NM_004525.3):c.3069A>G (p.T1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169246826T>C" "" "benign" ""
"0000282303" "0" "50" "2" "170163868" "170163868" "subst" "1.21962E-5" "02325" "LRP2_000108" "g.170163868T>C" "" "" "" "LRP2(NM_004525.3):c.350A>G (p.N117S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169307358T>C" "" "VUS" ""
"0000282304" "0" "10" "2" "170099899" "170099899" "subst" "0.536834" "02325" "LRP2_000082" "g.170099899G>A" "" "" "" "LRP2(NM_004525.3):c.3550+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169243389G>A" "" "benign" ""
"0000282305" "0" "10" "2" "170099446" "170099446" "subst" "0.537742" "02325" "LRP2_000078" "g.170099446T>G" "" "" "" "LRP2(NM_004525.3):c.3667+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169242936T>G" "" "benign" ""
"0000282306" "0" "50" "2" "170097650" "170097650" "subst" "0" "02325" "LRP2_000075" "g.170097650T>A" "" "" "" "LRP2(NM_004525.3):c.3893A>T (p.D1298V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169241140T>A" "" "VUS" ""
"0000282307" "0" "30" "2" "170094716" "170094716" "subst" "0" "02325" "LRP2_000073" "g.170094716T>C" "" "" "" "LRP2(NM_004525.3):c.4391A>G (p.N1464S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169238206T>C" "" "likely benign" ""
"0000282308" "0" "30" "2" "170090091" "170090091" "subst" "0.000199122" "02325" "LRP2_000069" "g.170090091C>T" "" "" "" "LRP2(NM_004525.3):c.4928G>A (p.R1643Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169233581C>T" "" "likely benign" ""
"0000282309" "0" "10" "2" "170218847" "170218847" "subst" "0.997744" "02325" "LRP2_000113" "g.170218847C>G" "" "" "" "LRP2(NM_004525.3):c.63G>C (p.A21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169362337C>G" "" "benign" ""
"0000282310" "0" "30" "2" "170060750" "170060750" "subst" "0.000647384" "02325" "LRP2_000051" "g.170060750C>T" "" "" "" "LRP2(NM_004525.3):c.7747G>A (p.(Val2583Met), p.V2583M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169204240C>T" "" "likely benign" ""
"0000282311" "0" "10" "2" "170218816" "170218816" "subst" "0.997678" "02325" "LRP2_000112" "g.170218816T>C" "" "" "" "LRP2(NM_004525.3):c.79+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169362306T>C" "" "benign" ""
"0000282312" "0" "10" "2" "170053505" "170053505" "subst" "0.266751" "02325" "LRP2_000047" "g.170053505C>T" "" "" "" "LRP2(NM_004525.3):c.8614G>A (p.A2872T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169196995C>T" "" "benign" ""
"0000282313" "0" "30" "2" "170050410" "170050410" "subst" "0.00530087" "02325" "LRP2_000046" "g.170050410G>A" "" "" "" "LRP2(NM_004525.2):c.8699-8C>T (p.(=)), LRP2(NM_004525.3):c.8699-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169193900G>A" "" "likely benign" ""
"0000282314" "0" "50" "2" "170044744" "170044744" "subst" "3.2528E-5" "02325" "LRP2_000042" "g.170044744T>C" "" "" "" "LRP2(NM_004525.3):c.9064A>G (p.S3022G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169188234T>C" "" "VUS" ""
"0000282315" "0" "30" "2" "170177382" "170177382" "subst" "0.00286367" "02325" "LRP2_000111" "g.170177382G>A" "" "" "" "LRP2(NM_004525.3):c.92C>T (p.A31V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169320872G>A" "" "likely benign" ""
"0000282316" "0" "30" "2" "170042495" "170042495" "subst" "0.000496994" "02325" "LRP2_000041" "g.170042495G>A" "" "" "" "LRP2(NM_004525.3):c.9363C>T (p.G3121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169185985G>A" "" "likely benign" ""
"0000282317" "0" "50" "2" "170038730" "170038730" "subst" "3.25082E-5" "02325" "LRP2_000036" "g.170038730G>T" "" "" "" "LRP2(NM_004525.3):c.9945C>A (p.N3315K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169182220G>T" "" "VUS" ""
"0000286042" "0" "30" "2" "170151249" "170151250" "del" "0" "02326" "LRP2_000105" "g.170151249_170151250del" "" "" "" "LRP2(NM_004525.3):c.428-9_428-8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169294739_169294740del" "" "likely benign" ""
"0000291120" "0" "10" "2" "170033089" "170033089" "subst" "0.00183216" "01943" "LRP2_000033" "g.170033089G>A" "" "" "" "LRP2(NM_004525.2):c.10403C>T (p.(Pro3468Leu)), LRP2(NM_004525.3):c.10403C>T (p.P3468L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169176579G>A" "" "benign" ""
"0000291121" "0" "50" "2" "170030537" "170030537" "subst" "0.000129996" "01943" "LRP2_000031" "g.170030537G>A" "" "" "" "LRP2(NM_004525.3):c.10906C>T (p.R3636W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169174027G>A" "" "VUS" ""
"0000291122" "0" "50" "2" "170029657" "170029657" "subst" "0.00595456" "01943" "LRP2_000026" "g.170029657C>T" "" "" "" "LRP2(NM_004525.2):c.11092G>A (p.(Val3698Met)), LRP2(NM_004525.3):c.11092G>A (p.V3698M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169173147C>T" "" "VUS" ""
"0000291123" "0" "50" "2" "170022537" "170022537" "subst" "0.000796321" "01943" "LRP2_000004" "g.170022537C>T" "" "" "" "LRP2(NM_004525.3):c.11663G>A (p.R3888H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169166027C>T" "" "VUS" ""
"0000291124" "0" "30" "2" "170009391" "170009391" "subst" "0.00308815" "01943" "LRP2_000017" "g.170009391G>T" "" "" "" "LRP2(NM_004525.3):c.12379C>A (p.R4127S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169152881G>T" "" "likely benign" ""
"0000291125" "0" "30" "2" "170177325" "170177325" "subst" "0.00385393" "01943" "LRP2_000110" "g.170177325G>C" "" "" "" "LRP2(NM_004525.2):c.149C>G (p.(Thr50Ser)), LRP2(NM_004525.3):c.149C>G (p.T50S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169320815G>C" "" "likely benign" ""
"0000291126" "0" "10" "2" "170115592" "170115592" "subst" "0.000792979" "01943" "LRP2_000093" "g.170115592C>T" "" "" "" "LRP2(NM_004525.3):c.2456G>A (p.R819H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169259082C>T" "" "benign" ""
"0000291127" "0" "30" "2" "170115537" "170115537" "subst" "0.00206692" "01943" "LRP2_000092" "g.170115537G>A" "" "" "" "LRP2(NM_004525.2):c.2511C>T (p.(=)), LRP2(NM_004525.3):c.2511C>T (p.A837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169259027G>A" "" "likely benign" ""
"0000291128" "0" "30" "2" "170113642" "170113642" "subst" "8.14312E-6" "01943" "LRP2_000090" "g.170113642G>A" "" "" "" "LRP2(NM_004525.3):c.2631C>T (p.I877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169257132G>A" "" "likely benign" ""
"0000291129" "0" "50" "2" "170112698" "170112698" "subst" "4.06653E-6" "01943" "LRP2_000089" "g.170112698G>C" "" "" "" "LRP2(NM_004525.2):c.2688C>G (p.(His896Gln)), LRP2(NM_004525.3):c.2688C>G (p.H896Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169256188G>C" "" "VUS" ""
"0000291130" "0" "30" "2" "170103295" "170103295" "subst" "0.00125885" "01943" "LRP2_000085" "g.170103295C>T" "" "" "" "LRP2(NM_004525.2):c.3110G>A (p.(Arg1037Lys)), LRP2(NM_004525.3):c.3110G>A (p.R1037K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169246785C>T" "" "likely benign" ""
"0000291131" "0" "30" "2" "170103277" "170103277" "subst" "0.00137259" "01943" "LRP2_000084" "g.170103277T>C" "" "" "" "LRP2(NM_004525.3):c.3128A>G (p.Y1043C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169246767T>C" "" "likely benign" ""
"0000291132" "0" "30" "2" "170099591" "170099591" "subst" "0.000150355" "01943" "LRP2_000080" "g.170099591G>T" "" "" "" "LRP2(NM_004525.3):c.3551-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169243081G>T" "" "likely benign" ""
"0000291133" "0" "30" "2" "170099474" "170099474" "subst" "0.00119393" "01943" "LRP2_000079" "g.170099474G>A" "" "" "" "LRP2(NM_004525.2):c.3659C>T (p.(Ala1220Val)), LRP2(NM_004525.3):c.3659C>T (p.A1220V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169242964G>A" "" "likely benign" ""
"0000291134" "0" "30" "2" "170097835" "170097835" "subst" "0" "01943" "LRP2_000077" "g.170097835C>T" "" "" "" "LRP2(NM_004525.3):c.3708G>A (p.Q1236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169241325C>T" "" "likely benign" ""
"0000291135" "0" "30" "2" "170163827" "170163827" "subst" "0.00157721" "01943" "LRP2_000106" "g.170163827T>C" "" "" "" "LRP2(NM_004525.3):c.391A>G (p.R131G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169307317T>C" "" "likely benign" ""
"0000291136" "0" "50" "2" "170094756" "170094756" "subst" "0.0019903" "01943" "LRP2_000074" "g.170094756C>A" "" "" "" "LRP2(NM_004525.2):c.4351G>T (p.(Val1451Phe)), LRP2(NM_004525.3):c.4351G>T (p.V1451F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169238246C>A" "" "VUS" ""
"0000291137" "0" "30" "2" "170089955" "170089955" "subst" "1.21826E-5" "01943" "LRP2_000068" "g.170089955C>T" "" "" "" "LRP2(NM_004525.3):c.5064G>A (p.G1688=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169233445C>T" "" "likely benign" ""
"0000291138" "0" "30" "2" "170089924" "170089924" "subst" "4.06105E-6" "01943" "LRP2_000067" "g.170089924T>C" "" "" "" "LRP2(NM_004525.3):c.5095A>G (p.N1699D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169233414T>C" "" "likely benign" ""
"0000291139" "0" "30" "2" "170068710" "170068710" "subst" "0.00239511" "01943" "LRP2_000062" "g.170068710G>A" "" "" "" "LRP2(NM_004525.3):c.6048C>T (p.A2016=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169212200G>A" "" "likely benign" ""
"0000291140" "0" "30" "2" "170063380" "170063380" "subst" "0.00212868" "01943" "LRP2_000057" "g.170063380T>C" "" "" "" "LRP2(NM_004525.2):c.6850A>G (p.(Thr2284Ala)), LRP2(NM_004525.3):c.6850A>G (p.T2284A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169206870T>C" "" "likely benign" ""
"0000291141" "0" "50" "2" "170063299" "170063299" "subst" "0" "01943" "LRP2_000055" "g.170063299C>T" "" "" "" "LRP2(NM_004525.3):c.6931G>A (p.E2311K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169206789C>T" "" "VUS" ""
"0000291142" "0" "10" "2" "170062683" "170062683" "subst" "0.000317045" "01943" "LRP2_000053" "g.170062683T>C" "" "" "" "LRP2(NM_004525.3):c.7406A>G (p.D2469G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169206173T>C" "" "benign" ""
"0000291143" "0" "30" "2" "170050323" "170050323" "subst" "6.49836E-5" "01943" "LRP2_000044" "g.170050323G>A" "" "" "" "LRP2(NM_004525.3):c.8778C>T (p.D2926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169193813G>A" "" "likely benign" ""
"0000291144" "0" "30" "2" "170048473" "170048473" "subst" "0.00054468" "01943" "LRP2_000043" "g.170048473G>C" "" "" "" "LRP2(NM_004525.3):c.8901C>G (p.P2967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169191963G>C" "" "likely benign" ""
"0000291145" "0" "10" "2" "170177382" "170177382" "subst" "0.00286367" "01943" "LRP2_000111" "g.170177382G>A" "" "" "" "LRP2(NM_004525.3):c.92C>T (p.A31V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169320872G>A" "" "benign" ""
"0000291146" "0" "30" "2" "170042208" "170042208" "subst" "0.000906792" "01943" "LRP2_000039" "g.170042208T>C" "" "" "" "LRP2(NM_004525.3):c.9650A>G (p.Y3217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169185698T>C" "" "likely benign" ""
"0000291147" "0" "30" "2" "170042047" "170042047" "subst" "0" "01943" "LRP2_000037" "g.170042047C>T" "" "" "" "LRP2(NM_004525.3):c.9811G>A (p.A3271T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169185537C>T" "" "likely benign" ""
"0000327452" "0" "30" "2" "169985338" "169985338" "subst" "0.00718728" "01804" "LRP2_000009" "g.169985338C>T" "" "" "" "LRP2(NM_004525.2):c.13803G>A (p.(Met4601Ile)), LRP2(NM_004525.3):c.13803G>A (p.M4601I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169128828C>T" "" "likely benign" ""
"0000327453" "0" "30" "2" "169996070" "169996070" "subst" "0.0151069" "01804" "LRP2_000013" "g.169996070C>T" "" "" "" "LRP2(NM_004525.2):c.13250G>A (p.(Gly4417Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169139560C>T" "" "likely benign" ""
"0000327454" "0" "50" "2" "170009394" "170009394" "subst" "2.03173E-5" "01804" "LRP2_000018" "g.170009394C>T" "" "" "" "LRP2(NM_004525.2):c.12376G>A (p.(Gly4126Ser)), LRP2(NM_004525.3):c.12376G>A (p.G4126S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169152884C>T" "" "VUS" ""
"0000327457" "0" "30" "2" "170029657" "170029657" "subst" "0.00595456" "01804" "LRP2_000026" "g.170029657C>T" "" "" "" "LRP2(NM_004525.2):c.11092G>A (p.(Val3698Met)), LRP2(NM_004525.3):c.11092G>A (p.V3698M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169173147C>T" "" "likely benign" ""
"0000327458" "0" "50" "2" "170030497" "170030497" "subst" "0" "01804" "LRP2_000027" "g.170030497G>A" "" "" "" "LRP2(NM_004525.2):c.10946C>T (p.(Pro3649Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169173987G>A" "" "VUS" ""
"0000327459" "0" "50" "2" "170030528" "170030528" "subst" "0" "01804" "LRP2_000029" "g.170030528G>A" "" "" "" "LRP2(NM_004525.2):c.10915C>T (p.(Gln3639Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169174018G>A" "" "VUS" ""
"0000327460" "0" "50" "2" "170034504" "170034504" "subst" "4.47056E-5" "01804" "LRP2_000034" "g.170034504G>C" "" "" "" "LRP2(NM_004525.2):c.10202C>G (p.(Thr3401Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169177994G>C" "" "VUS" ""
"0000327461" "0" "50" "2" "170037962" "170037962" "subst" "0.00205552" "01804" "LRP2_000035" "g.170037962T>C" "" "" "" "LRP2(NM_004525.2):c.10165A>G (p.(Ile3389Val)), LRP2(NM_004525.3):c.10165A>G (p.I3389V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169181452T>C" "" "VUS" ""
"0000327462" "0" "50" "2" "170042177" "170042177" "subst" "8.13054E-6" "01804" "LRP2_000038" "g.170042177G>T" "" "" "" "LRP2(NM_004525.2):c.9681C>A (p.(Asp3227Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169185667G>T" "" "VUS" ""
"0000327464" "0" "50" "2" "170050399" "170050399" "subst" "1.21845E-5" "01804" "LRP2_000045" "g.170050399T>C" "" "" "" "LRP2(NM_004525.2):c.8702A>G (p.(His2901Arg)), LRP2(NM_004525.3):c.8702A>G (p.H2901R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169193889T>C" "" "VUS" ""
"0000327465" "0" "30" "2" "170050410" "170050410" "subst" "0.00530087" "01804" "LRP2_000046" "g.170050410G>A" "" "" "" "LRP2(NM_004525.2):c.8699-8C>T (p.(=)), LRP2(NM_004525.3):c.8699-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169193900G>A" "" "likely benign" ""
"0000327468" "0" "50" "2" "170062118" "170062118" "subst" "0.000166515" "01804" "LRP2_000052" "g.170062118T>C" "" "" "" "LRP2(NM_004525.2):c.7586A>G (p.(His2529Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169205608T>C" "" "VUS" ""
"0000327469" "0" "50" "2" "170063757" "170063757" "subst" "0.000486013" "01804" "LRP2_000058" "g.170063757T>G" "" "" "" "LRP2(NM_004525.2):c.6473A>C (p.(Asn2158Thr)), LRP2(NM_004525.3):c.6473A>C (p.N2158T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169207247T>G" "" "VUS" ""
"0000327470" "0" "50" "2" "170068502" "170068502" "subst" "0.0015039" "01804" "LRP2_000059" "g.170068502T>A" "" "" "" "LRP2(NM_004525.2):c.6256A>T (p.(Thr2086Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169211992T>A" "" "VUS" ""
"0000327473" "0" "50" "2" "170068652" "170068652" "subst" "0.000162611" "01804" "LRP2_000061" "g.170068652C>T" "" "" "" "LRP2(NM_004525.2):c.6106G>A (p.(Val2036Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169212142C>T" "" "VUS" ""
"0000327475" "0" "50" "2" "170082964" "170082964" "subst" "0" "01804" "LRP2_000064" "g.170082964C>A" "" "" "" "LRP2(NM_004525.2):c.5362G>T (p.(Ala1788Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169226454C>A" "" "VUS" ""
"0000327476" "0" "50" "2" "170083033" "170083033" "subst" "0.00218102" "01804" "LRP2_000065" "g.170083033C>T" "" "" "" "LRP2(NM_004525.2):c.5293G>A (p.(Val1765Met)), LRP2(NM_004525.3):c.5293G>A (p.V1765M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169226523C>T" "" "VUS" ""
"0000327478" "0" "50" "2" "170088338" "170088338" "subst" "4.0664E-6" "01804" "LRP2_000066" "g.170088338C>G" "" "" "" "LRP2(NM_004525.2):c.5113G>C (p.(Ala1705Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169231828C>G" "" "VUS" ""
"0000327480" "0" "50" "2" "170092559" "170092559" "subst" "1.22313E-5" "01804" "LRP2_000072" "g.170092559A>C" "" "" "" "LRP2(NM_004525.2):c.4711T>G (p.(Ser1571Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169236049A>C" "" "VUS" ""
"0000327481" "0" "30" "2" "170099474" "170099474" "subst" "0.00119393" "01804" "LRP2_000079" "g.170099474G>A" "" "" "" "LRP2(NM_004525.2):c.3659C>T (p.(Ala1220Val)), LRP2(NM_004525.3):c.3659C>T (p.A1220V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169242964G>A" "" "likely benign" ""
"0000327482" "0" "30" "2" "170100011" "170100011" "subst" "0.00918202" "01804" "LRP2_000083" "g.170100011G>A" "" "" "" "LRP2(NM_004525.2):c.3452C>T (p.(Pro1151Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169243501G>A" "" "likely benign" ""
"0000327485" "0" "50" "2" "170112698" "170112698" "subst" "4.06653E-6" "01804" "LRP2_000089" "g.170112698G>C" "" "" "" "LRP2(NM_004525.2):c.2688C>G (p.(His896Gln)), LRP2(NM_004525.3):c.2688C>G (p.H896Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169256188G>C" "" "VUS" ""
"0000327486" "0" "50" "2" "170113670" "170113670" "subst" "0.00095259" "01804" "LRP2_000091" "g.170113670G>C" "" "" "" "LRP2(NM_004525.2):c.2603C>G (p.(Thr868Ser)), LRP2(NM_004525.3):c.2603C>G (p.T868S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169257160G>C" "" "VUS" ""
"0000327487" "0" "30" "2" "170115537" "170115537" "subst" "0.00206692" "01804" "LRP2_000092" "g.170115537G>A" "" "" "" "LRP2(NM_004525.2):c.2511C>T (p.(=)), LRP2(NM_004525.3):c.2511C>T (p.A837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169259027G>A" "" "likely benign" ""
"0000327488" "0" "50" "2" "170127524" "170127524" "subst" "0.000708509" "01804" "LRP2_000095" "g.170127524G>A" "" "" "" "LRP2(NM_004525.2):c.2210C>T (p.(Ser737Leu)), LRP2(NM_004525.3):c.2210C>T (p.S737L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169271014G>A" "" "VUS" ""
"0000327489" "0" "50" "2" "170129529" "170129529" "subst" "0.00163292" "01804" "LRP2_000097" "g.170129529A>G" "" "" "" "LRP2(NM_004525.2):c.2024T>C (p.(Val675Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169273019A>G" "" "VUS" ""
"0000327493" "0" "30" "2" "170145661" "170145661" "subst" "0.0113958" "01804" "LRP2_000101" "g.170145661C>T" "" "" "" "LRP2(NM_004525.2):c.923-6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169289151C>T" "" "likely benign" ""
"0000327498" "0" "50" "2" "170163836" "170163836" "subst" "4.06514E-6" "01804" "LRP2_000107" "g.170163836C>T" "" "" "" "LRP2(NM_004525.2):c.382G>A (p.(Asp128Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169307326C>T" "" "VUS" ""
"0000327499" "0" "30" "2" "170177325" "170177325" "subst" "0.00385393" "01804" "LRP2_000110" "g.170177325G>C" "" "" "" "LRP2(NM_004525.2):c.149C>G (p.(Thr50Ser)), LRP2(NM_004525.3):c.149C>G (p.T50S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169320815G>C" "" "likely benign" ""
"0000327501" "0" "50" "2" "170218848" "170218848" "subst" "0.000126748" "01804" "LRP2_000114" "g.170218848G>T" "" "" "" "LRP2(NM_004525.3):c.62C>A (p.A21E, p.(Ala21Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169362338G>T" "" "VUS" ""
"0000337330" "0" "10" "2" "170096018" "170096018" "subst" "0.399822" "02327" "LRP2_000130" "g.170096018G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169239508G>A" "" "benign" ""
"0000337331" "0" "10" "2" "170099446" "170099446" "subst" "0.537742" "02327" "LRP2_000078" "g.170099446T>G" "" "" "" "LRP2(NM_004525.3):c.3667+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169242936T>G" "" "benign" ""
"0000337332" "0" "10" "2" "170099895" "170099895" "subst" "0.548523" "02327" "LRP2_000081" "g.170099895A>C" "" "" "" "LRP2(NM_004525.3):c.3550+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169243385A>C" "" "benign" ""
"0000337333" "0" "10" "2" "170099899" "170099899" "subst" "0.536834" "02327" "LRP2_000082" "g.170099899G>A" "" "" "" "LRP2(NM_004525.3):c.3550+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169243389G>A" "" "benign" ""
"0000337334" "0" "10" "2" "170148745" "170148745" "subst" "0.0627492" "02327" "LRP2_000139" "g.170148745A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169292235A>G" "" "benign" ""
"0000337335" "0" "10" "2" "170218816" "170218816" "subst" "0.997678" "02327" "LRP2_000112" "g.170218816T>C" "" "" "" "LRP2(NM_004525.3):c.79+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169362306T>C" "" "benign" ""
"0000339527" "0" "10" "2" "169997051" "169997051" "subst" "0.693128" "02327" "LRP2_000014" "g.169997051G>A" "" "" "" "LRP2(NM_004525.3):c.13113C>T (p.I4371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169140541G>A" "" "benign" ""
"0000339528" "0" "10" "2" "170025083" "170025083" "subst" "0.203288" "02327" "LRP2_000117" "g.170025083A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169168573A>G" "" "benign" ""
"0000339529" "0" "30" "2" "170059306" "170059306" "subst" "0.000125925" "02327" "LRP2_000121" "g.170059306G>A" "" "" "" "LRP2(NM_004525.3):c.8169C>T (p.N2723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169202796G>A" "" "likely benign" ""
"0000339530" "0" "10" "2" "170062078" "170062078" "subst" "0.0686067" "02327" "LRP2_000123" "g.170062078G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169205568G>C" "" "benign" ""
"0000339531" "0" "30" "2" "170082947" "170082947" "subst" "0" "02327" "LRP2_000127" "g.170082947A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169226437A>G" "" "likely benign" ""
"0000339532" "0" "10" "2" "170089934" "170089934" "subst" "0.0089103" "02327" "LRP2_000129" "g.170089934C>T" "" "" "" "LRP2(NM_004525.3):c.5085G>A (p.S1695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169233424C>T" "" "benign" ""
"0000339533" "0" "10" "2" "170163816" "170163816" "subst" "0.0601498" "02327" "LRP2_000141" "g.170163816G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169307306G>T" "" "benign" ""
"0000340620" "0" "10" "2" "170099473" "170099473" "subst" "0.524535" "02327" "LRP2_000133" "g.170099473T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169242963T>C" "" "benign" ""
"0000340633" "0" "10" "2" "170218847" "170218847" "subst" "0.997744" "02327" "LRP2_000113" "g.170218847C>G" "" "" "" "LRP2(NM_004525.3):c.63G>C (p.A21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169362337C>G" "" "benign" ""
"0000340670" "0" "10" "2" "170096095" "170096095" "subst" "0.0164477" "02327" "LRP2_000131" "g.170096095C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169239585C>G" "" "benign" ""
"0000340675" "0" "10" "2" "170070348" "170070348" "subst" "0.0712188" "02327" "LRP2_000125" "g.170070348T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169213838T>C" "" "benign" ""
"0000340719" "0" "10" "2" "170150671" "170150671" "subst" "0.326135" "02327" "LRP2_000140" "g.170150671G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169294161G>A" "" "benign" ""
"0000340733" "0" "10" "2" "170115672" "170115672" "subst" "0.069397" "02327" "LRP2_000136" "g.170115672A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169259162A>G" "" "benign" ""
"0000340739" "0" "10" "2" "170092395" "170092395" "subst" "0.332499" "02327" "LRP2_000071" "g.170092395A>G" "" "" "" "LRP2(NM_004525.3):c.4875T>C (p.C1625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169235885A>G" "" "benign" ""
"0000340748" "0" "10" "2" "170032989" "170032989" "subst" "0.482578" "02327" "LRP2_000032" "g.170032989C>T" "" "" "" "LRP2(NM_004525.3):c.10503G>A (p.Q3501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169176479C>T" "" "benign" ""
"0000340843" "0" "10" "2" "170063263" "170063263" "subst" "0.00371309" "02327" "LRP2_000124" "g.170063263G>A" "" "" "" "LRP2(NM_004525.3):c.6967C>T (p.L2323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169206753G>A" "" "benign" ""
"0000340950" "0" "10" "2" "170088351" "170088351" "subst" "0.121303" "02327" "LRP2_000128" "g.170088351G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169231841G>A" "" "benign" ""
"0000340985" "0" "10" "2" "170103351" "170103351" "subst" "0.501422" "02327" "LRP2_000087" "g.170103351G>T" "" "" "" "LRP2(NM_004525.3):c.3054C>A (p.T1018=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169246841G>T" "" "benign" ""
"0000340986" "0" "10" "2" "170103336" "170103336" "subst" "0.53788" "02327" "LRP2_000086" "g.170103336T>C" "" "" "" "LRP2(NM_004525.3):c.3069A>G (p.T1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169246826T>C" "" "benign" ""
"0000341026" "0" "10" "2" "170115588" "170115588" "subst" "0.546197" "02327" "LRP2_000135" "g.170115588T>C" "" "" "" "LRP2(NM_004525.3):c.2460A>G (p.T820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169259078T>C" "" "benign" ""
"0000341063" "0" "10" "2" "170129528" "170129528" "subst" "0.626264" "02327" "LRP2_000096" "g.170129528G>A" "" "" "" "LRP2(NM_004525.3):c.2025C>T (p.V675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169273018G>A" "" "benign" ""
"0000341340" "0" "10" "2" "170053505" "170053505" "subst" "0.266751" "02327" "LRP2_000047" "g.170053505C>T" "" "" "" "LRP2(NM_004525.3):c.8614G>A (p.A2872T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169196995C>T" "" "benign" ""
"0000342759" "0" "50" "2" "170028611" "170028611" "subst" "4.46773E-5" "02327" "LRP2_000118" "g.170028611C>T" "" "" "" "LRP2(NM_004525.3):c.11177G>A (p.(Arg3726His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169172101C>T" "" "VUS" ""
"0000342875" "0" "50" "2" "170003402" "170003402" "subst" "0" "02327" "LRP2_000115" "g.170003402G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169146892G>A" "" "VUS" ""
"0000343677" "0" "10" "2" "170060603" "170060603" "subst" "0.0293733" "02327" "LRP2_000122" "g.170060603T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169204093T>C" "" "benign" ""
"0000343709" "0" "30" "2" "170042245" "170042245" "subst" "0.00398162" "02327" "LRP2_000120" "g.170042245T>C" "" "" "" "LRP2(NM_004525.2):c.9613A>G (p.(Asn3205Asp)), LRP2(NM_004525.3):c.9613A>G (p.N3205D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169185735T>C" "" "likely benign" ""
"0000343832" "0" "10" "2" "170175334" "170175334" "subst" "0.271878" "02327" "LRP2_000109" "g.170175334T>C" "" "" "" "LRP2(NM_004525.3):c.248A>G (p.N83S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169318824T>C" "" "benign" ""
"0000344371" "0" "50" "2" "170031876" "170031876" "subst" "0" "02327" "LRP2_000119" "g.170031876C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169175366C>T" "" "VUS" ""
"0000344792" "0" "90" "2" "170030528" "170030528" "subst" "0" "02327" "LRP2_000029" "g.170030528G>A" "" "" "" "LRP2(NM_004525.2):c.10915C>T (p.(Gln3639Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169174018G>A" "" "pathogenic" ""
"0000345917" "0" "10" "2" "170147502" "170147502" "subst" "0.0640002" "02327" "LRP2_000138" "g.170147502C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169290992C>G" "" "benign" ""
"0000346214" "0" "10" "2" "170129547" "170129547" "subst" "0.0282363" "02327" "LRP2_000137" "g.170129547C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169273037C>T" "" "benign" ""
"0000346693" "0" "50" "2" "170037962" "170037962" "subst" "0.00205552" "02327" "LRP2_000035" "g.170037962T>C" "" "" "" "LRP2(NM_004525.2):c.10165A>G (p.(Ile3389Val)), LRP2(NM_004525.3):c.10165A>G (p.I3389V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169181452T>C" "" "VUS" ""
"0000346726" "0" "10" "2" "170003432" "170003432" "subst" "0.726147" "02327" "LRP2_000016" "g.170003432T>G" "" "" "" "LRP2(NM_004525.3):c.12628A>C (p.I4210L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169146922T>G" "" "benign" ""
"0000347559" "0" "10" "2" "170010985" "170010985" "subst" "0.761343" "02327" "LRP2_000020" "g.170010985T>C" "" "" "" "LRP2(NM_004525.3):c.12280A>G (p.K4094E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169154475T>C" "" "benign" ""
"0000348144" "0" "10" "2" "170100011" "170100011" "subst" "0.00918202" "02327" "LRP2_000083" "g.170100011G>A" "" "" "" "LRP2(NM_004525.2):c.3452C>T (p.(Pro1151Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169243501G>A" "" "benign" ""
"0000350736" "0" "90" "2" "170112615" "170112615" "subst" "0" "02327" "LRP2_000134" "g.170112615C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169256105C>T" "" "pathogenic" ""
"0000350970" "0" "70" "2" "170070389" "170070389" "subst" "4.11889E-6" "02327" "LRP2_000126" "g.170070389T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169213879T>C" "" "likely pathogenic" ""
"0000350971" "0" "10" "2" "170096291" "170096291" "subst" "0.0164858" "02327" "LRP2_000132" "g.170096291A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169239781A>G" "" "benign" ""
"0000407996" "0" "90" "2" "170009334" "170009334" "del" "0" "00006" "LRP2_000116" "g.170009334del" "" "{PMID:de Ligt 2012:23033978}" "" "NM_004525.2:c.12437del (Gly4146Glufs*2)" "" "De novo" "" "" "0" "" "" "g.169152824del" "" "pathogenic" ""
"0000510108" "0" "30" "2" "169985258" "169985258" "subst" "4.06395E-6" "01943" "LRP2_000142" "g.169985258C>G" "" "" "" "LRP2(NM_004525.3):c.13883G>C (p.R4628T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169128748C>G" "" "likely benign" ""
"0000510109" "0" "50" "2" "169985291" "169985291" "subst" "8.12764E-6" "01943" "LRP2_000143" "g.169985291G>A" "" "" "" "LRP2(NM_004525.3):c.13850C>T (p.P4617L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169128781G>A" "" "VUS" ""
"0000510110" "0" "30" "2" "169989127" "169989127" "subst" "0.00189326" "01804" "LRP2_000010" "g.169989127A>G" "" "" "" "LRP2(NM_004525.3):c.13685T>C (p.V4562A, p.(Val4562Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169132617A>G" "" "likely benign" ""
"0000510111" "0" "10" "2" "169994043" "169994044" "dup" "0" "02326" "LRP2_000144" "g.169994043_169994044dup" "" "" "" "LRP2(NM_004525.3):c.13519-20_13519-19dupCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169137533_169137534dup" "" "benign" ""
"0000510112" "0" "30" "2" "169995786" "169995786" "subst" "2.44343E-5" "01943" "LRP2_000145" "g.169995786A>G" "" "" "" "LRP2(NM_004525.3):c.13363T>C (p.L4455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169139276A>G" "" "likely benign" ""
"0000510113" "0" "10" "2" "169996070" "169996070" "subst" "0.0151069" "02327" "LRP2_000013" "g.169996070C>T" "" "" "" "LRP2(NM_004525.2):c.13250G>A (p.(Gly4417Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169139560C>T" "" "benign" ""
"0000510114" "0" "50" "2" "169996974" "169996974" "subst" "8.13498E-6" "01943" "LRP2_000146" "g.169996974G>A" "" "" "" "LRP2(NM_004525.3):c.13190C>T (p.P4397L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169140464G>A" "" "VUS" ""
"0000510115" "0" "30" "2" "169999195" "169999195" "subst" "0" "01804" "LRP2_000147" "g.169999195T>C" "" "" "" "LRP2(NM_004525.2):c.13097A>G (p.(Glu4366Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169142685T>C" "" "likely benign" ""
"0000510116" "0" "30" "2" "169999206" "169999206" "subst" "0" "01943" "LRP2_000148" "g.169999206C>A" "" "" "" "LRP2(NM_004525.3):c.13086G>T (p.G4362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169142696C>A" "" "likely benign" ""
"0000510117" "0" "50" "2" "170003335" "170003335" "subst" "0.00184031" "01943" "LRP2_000149" "g.170003335T>C" "" "" "" "LRP2(NM_004525.3):c.12725A>G (p.D4242G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169146825T>C" "" "VUS" ""
"0000510118" "0" "50" "2" "170007505" "170007505" "subst" "5.68999E-5" "01804" "LRP2_000150" "g.170007505G>A" "" "" "" "LRP2(NM_004525.2):c.12493C>T (p.(Arg4165Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169150995G>A" "" "VUS" ""
"0000510119" "0" "30" "2" "170009390" "170009390" "subst" "0.00248293" "01943" "LRP2_000151" "g.170009390C>T" "" "" "" "LRP2(NM_004525.2):c.12380G>A (p.(Arg4127His)), LRP2(NM_004525.3):c.12380G>A (p.R4127H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169152880C>T" "" "likely benign" ""
"0000510120" "0" "30" "2" "170009390" "170009390" "subst" "0.00248293" "01804" "LRP2_000151" "g.170009390C>T" "" "" "" "LRP2(NM_004525.2):c.12380G>A (p.(Arg4127His)), LRP2(NM_004525.3):c.12380G>A (p.R4127H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169152880C>T" "" "likely benign" ""
"0000510121" "0" "30" "2" "170009390" "170009390" "subst" "0.00248293" "02325" "LRP2_000151" "g.170009390C>T" "" "" "" "LRP2(NM_004525.2):c.12380G>A (p.(Arg4127His)), LRP2(NM_004525.3):c.12380G>A (p.R4127H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169152880C>T" "" "likely benign" ""
"0000510124" "0" "30" "2" "170009478" "170009478" "subst" "0.0011058" "01943" "LRP2_000153" "g.170009478C>T" "" "" "" "LRP2(NM_004525.3):c.12296-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169152968C>T" "" "likely benign" ""
"0000510125" "0" "30" "2" "170009481" "170009481" "subst" "0.00115057" "01804" "LRP2_000019" "g.170009481A>T" "" "" "" "LRP2(NM_004525.2):c.12296-7T>A (p.(=)), LRP2(NM_004525.3):c.12296-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169152971A>T" "" "likely benign" ""
"0000510126" "0" "30" "2" "170010962" "170010962" "subst" "1.62649E-5" "01804" "LRP2_000154" "g.170010962A>G" "" "" "" "LRP2(NM_004525.2):c.12295+8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169154452A>G" "" "likely benign" ""
"0000510128" "0" "30" "2" "170012810" "170012810" "subst" "0.00113334" "01943" "LRP2_000156" "g.170012810C>T" "" "" "" "LRP2(NM_004525.3):c.12125G>A (p.R4042H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169156300C>T" "" "likely benign" ""
"0000510130" "0" "30" "2" "170025095" "170025095" "subst" "8.12823E-6" "01943" "LRP2_000157" "g.170025095G>A" "" "" "" "LRP2(NM_004525.3):c.11589C>T (p.G3863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169168585G>A" "" "likely benign" ""
"0000510131" "0" "30" "2" "170025180" "170025180" "subst" "4.87666E-5" "01943" "LRP2_000023" "g.170025180C>T" "" "" "" "LRP2(NM_004525.3):c.11504G>A (p.R3835H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169168670C>T" "" "likely benign" ""
"0000510132" "0" "10" "2" "170025205" "170025205" "del" "0" "02325" "LRP2_000158" "g.170025205del" "" "" "" "LRP2(NM_004525.3):c.11498-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169168695del" "" "benign" ""
"0000510133" "0" "50" "2" "170029618" "170029618" "subst" "4.06111E-6" "02327" "LRP2_000159" "g.170029618C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169173108C>T" "" "VUS" ""
"0000510135" "0" "50" "2" "170031775" "170031775" "subst" "0" "01943" "LRP2_000161" "g.170031775T>C" "" "" "" "LRP2(NM_004525.3):c.10696A>G (p.T3566A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169175265T>C" "" "VUS" ""
"0000510136" "0" "30" "2" "170033089" "170033089" "subst" "0.00183216" "01804" "LRP2_000033" "g.170033089G>A" "" "" "" "LRP2(NM_004525.2):c.10403C>T (p.(Pro3468Leu)), LRP2(NM_004525.3):c.10403C>T (p.P3468L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169176579G>A" "" "likely benign" ""
"0000510137" "0" "50" "2" "170034496" "170034496" "subst" "0" "01943" "LRP2_000162" "g.170034496C>T" "" "" "" "LRP2(NM_004525.3):c.10210G>A (p.D3404N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169177986C>T" "" "VUS" ""
"0000510138" "0" "50" "2" "170037962" "170037962" "subst" "0.00205552" "01943" "LRP2_000035" "g.170037962T>C" "" "" "" "LRP2(NM_004525.2):c.10165A>G (p.(Ile3389Val)), LRP2(NM_004525.3):c.10165A>G (p.I3389V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169181452T>C" "" "VUS" ""
"0000510139" "0" "30" "2" "170038761" "170038761" "subst" "0.00428122" "01804" "LRP2_000163" "g.170038761C>T" "" "" "" "LRP2(NM_004525.2):c.9914G>A (p.(Arg3305His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169182251C>T" "" "likely benign" ""
"0000510142" "0" "50" "2" "170042065" "170042065" "subst" "8.53985E-5" "01943" "LRP2_000166" "g.170042065T>A" "" "" "" "LRP2(NM_004525.3):c.9793A>T (p.I3265L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169185555T>A" "" "VUS" ""
"0000510143" "0" "30" "2" "170042245" "170042245" "subst" "0.00398162" "01943" "LRP2_000120" "g.170042245T>C" "" "" "" "LRP2(NM_004525.2):c.9613A>G (p.(Asn3205Asp)), LRP2(NM_004525.3):c.9613A>G (p.N3205D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169185735T>C" "" "likely benign" ""
"0000510144" "0" "30" "2" "170042245" "170042245" "subst" "0.00398162" "01804" "LRP2_000120" "g.170042245T>C" "" "" "" "LRP2(NM_004525.2):c.9613A>G (p.(Asn3205Asp)), LRP2(NM_004525.3):c.9613A>G (p.N3205D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169185735T>C" "" "likely benign" ""
"0000510145" "0" "10" "2" "170042445" "170042445" "subst" "0.000960208" "01943" "LRP2_000167" "g.170042445C>T" "" "" "" "LRP2(NM_004525.3):c.9413G>A (p.R3138H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169185935C>T" "" "benign" ""
"0000510146" "0" "30" "2" "170042495" "170042495" "subst" "0.000496994" "01943" "LRP2_000041" "g.170042495G>A" "" "" "" "LRP2(NM_004525.3):c.9363C>T (p.G3121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169185985G>A" "" "likely benign" ""
"0000510147" "0" "30" "2" "170042516" "170042516" "subst" "0.00123181" "01943" "LRP2_000168" "g.170042516G>A" "" "" "" "LRP2(NM_004525.3):c.9342C>T (p.C3114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169186006G>A" "" "likely benign" ""
"0000510148" "0" "30" "2" "170044538" "170044538" "subst" "4.06352E-6" "01943" "LRP2_000169" "g.170044538C>A" "" "" "" "LRP2(NM_004525.3):c.9270G>T (p.M3090I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169188028C>A" "" "likely benign" ""
"0000510149" "0" "50" "2" "170044738" "170044738" "subst" "0" "02327" "LRP2_000170" "g.170044738C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169188228C>T" "" "VUS" ""
"0000510151" "0" "50" "2" "170055404" "170055404" "subst" "0" "01804" "LRP2_000172" "g.170055404A>G" "" "" "" "LRP2(NM_004525.2):c.8470T>C (p.(Ser2824Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169198894A>G" "" "VUS" ""
"0000510154" "0" "30" "2" "170058379" "170058379" "subst" "8.12922E-6" "01943" "LRP2_000175" "g.170058379T>C" "" "" "" "LRP2(NM_004525.3):c.8211A>G (p.A2737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169201869T>C" "" "likely benign" ""
"0000510155" "0" "30" "2" "170059306" "170059306" "subst" "0.000125925" "01943" "LRP2_000121" "g.170059306G>A" "" "" "" "LRP2(NM_004525.3):c.8169C>T (p.N2723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169202796G>A" "" "likely benign" ""
"0000510156" "0" "30" "2" "170059326" "170059326" "subst" "5.6875E-5" "01943" "LRP2_000176" "g.170059326A>G" "" "" "" "LRP2(NM_004525.3):c.8149T>C (p.W2717R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169202816A>G" "" "likely benign" ""
"0000510158" "0" "30" "2" "170060631" "170060631" "subst" "0.000637781" "01943" "LRP2_000177" "g.170060631G>A" "" "" "" "LRP2(NM_004525.3):c.7866C>T (p.D2622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169204121G>A" "" "likely benign" ""
"0000510159" "0" "50" "2" "170060696" "170060696" "subst" "9.34503E-5" "01943" "LRP2_000050" "g.170060696A>G" "" "" "" "LRP2(NM_004525.3):c.7801T>C (p.Y2601H, p.(Tyr2601His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169204186A>G" "" "VUS" ""
"0000510161" "0" "50" "2" "170062657" "170062657" "subst" "8.12817E-6" "01943" "LRP2_000179" "g.170062657T>C" "" "" "" "LRP2(NM_004525.3):c.7432A>G (p.R2478G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169206147T>C" "" "VUS" ""
"0000510162" "0" "30" "2" "170062941" "170062941" "subst" "0" "01804" "LRP2_000180" "g.170062941C>G" "" "" "" "LRP2(NM_004525.2):c.7289G>C (p.(Ser2430Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169206431C>G" "" "likely benign" ""
"0000510164" "0" "30" "2" "170062977" "170062977" "subst" "0.0128583" "01804" "LRP2_000181" "g.170062977T>C" "" "" "" "LRP2(NM_004525.2):c.7253A>G (p.(Glu2418Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169206467T>C" "" "likely benign" ""
"0000510166" "0" "30" "2" "170063224" "170063224" "subst" "8.93735E-5" "01804" "LRP2_000183" "g.170063224G>A" "" "" "" "LRP2(NM_004525.2):c.7006C>T (p.(Arg2336Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169206714G>A" "" "likely benign" ""
"0000510167" "0" "30" "2" "170063380" "170063380" "subst" "0.00212868" "01804" "LRP2_000057" "g.170063380T>C" "" "" "" "LRP2(NM_004525.2):c.6850A>G (p.(Thr2284Ala)), LRP2(NM_004525.3):c.6850A>G (p.T2284A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169206870T>C" "" "likely benign" ""
"0000510168" "0" "30" "2" "170063380" "170063380" "subst" "0.00212868" "02327" "LRP2_000057" "g.170063380T>C" "" "" "" "LRP2(NM_004525.2):c.6850A>G (p.(Thr2284Ala)), LRP2(NM_004525.3):c.6850A>G (p.T2284A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169206870T>C" "" "likely benign" ""
"0000510169" "0" "30" "2" "170063669" "170063669" "subst" "0" "01943" "LRP2_000184" "g.170063669G>A" "" "" "" "LRP2(NM_004525.3):c.6561C>T (p.V2187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169207159G>A" "" "likely benign" ""
"0000510170" "0" "50" "2" "170063685" "170063685" "subst" "0.000130603" "01943" "LRP2_000185" "g.170063685C>T" "" "" "" "LRP2(NM_004525.3):c.6545G>A (p.R2182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169207175C>T" "" "VUS" ""
"0000510171" "0" "30" "2" "170066158" "170066158" "subst" "0.000200003" "01943" "LRP2_000186" "g.170066158G>T" "" "" "" "LRP2(NM_004525.3):c.6281-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169209648G>T" "" "likely benign" ""
"0000510172" "0" "10" "2" "170068564" "170068564" "subst" "0.000886813" "01943" "LRP2_000187" "g.170068564A>G" "" "" "" "LRP2(NM_004525.3):c.6194T>C (p.I2065T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169212054A>G" "" "benign" ""
"0000510175" "0" "30" "2" "170070321" "170070321" "subst" "4.90858E-5" "01943" "LRP2_000188" "g.170070321G>A" "" "" "" "LRP2(NM_004525.3):c.5886C>T (p.H1962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169213811G>A" "" "likely benign" ""
"0000510176" "0" "90" "2" "170070332" "170070332" "subst" "0" "02327" "LRP2_000189" "g.170070332G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169213822G>A" "" "pathogenic" ""
"0000510177" "0" "50" "2" "170072852" "170072852" "subst" "4.47588E-5" "01804" "LRP2_000190" "g.170072852G>C" "" "" "" "LRP2(NM_004525.2):c.5737C>G (p.(Leu1913Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169216342G>C" "" "VUS" ""
"0000510178" "0" "30" "2" "170077059" "170077059" "subst" "0.000138967" "01943" "LRP2_000191" "g.170077059G>A" "" "" "" "LRP2(NM_004525.2):c.5553C>T (p.(=)), LRP2(NM_004525.3):c.5553C>T (p.H1851=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169220549G>A" "" "likely benign" ""
"0000510179" "0" "30" "2" "170077059" "170077059" "subst" "0.000138967" "01804" "LRP2_000191" "g.170077059G>A" "" "" "" "LRP2(NM_004525.2):c.5553C>T (p.(=)), LRP2(NM_004525.3):c.5553C>T (p.H1851=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169220549G>A" "" "likely benign" ""
"0000510181" "0" "30" "2" "170082936" "170082936" "subst" "0.00249434" "01943" "LRP2_000193" "g.170082936T>C" "" "" "" "LRP2(NM_004525.3):c.5390A>G (p.N1797S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169226426T>C" "" "likely benign" ""
"0000510183" "0" "30" "2" "170083022" "170083022" "subst" "4.06822E-6" "01943" "LRP2_000194" "g.170083022A>G" "" "" "" "LRP2(NM_004525.3):c.5304T>C (p.N1768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169226512A>G" "" "likely benign" ""
"0000510184" "0" "50" "2" "170083023" "170083023" "subst" "2.84782E-5" "01943" "LRP2_000195" "g.170083023T>C" "" "" "" "LRP2(NM_004525.3):c.5303A>G (p.N1768S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169226513T>C" "" "VUS" ""
"0000510185" "0" "10" "2" "170083033" "170083033" "subst" "0.00218102" "01943" "LRP2_000065" "g.170083033C>T" "" "" "" "LRP2(NM_004525.2):c.5293G>A (p.(Val1765Met)), LRP2(NM_004525.3):c.5293G>A (p.V1765M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169226523C>T" "" "benign" ""
"0000510186" "0" "30" "2" "170093615" "170093615" "subst" "2.43839E-5" "01804" "LRP2_000196" "g.170093615C>T" "" "" "" "LRP2(NM_004525.2):c.4689G>A (p.(Met1563Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169237105C>T" "" "likely benign" ""
"0000510187" "0" "30" "2" "170094756" "170094756" "subst" "0.0019903" "01804" "LRP2_000074" "g.170094756C>A" "" "" "" "LRP2(NM_004525.2):c.4351G>T (p.(Val1451Phe)), LRP2(NM_004525.3):c.4351G>T (p.V1451F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169238246C>A" "" "likely benign" ""
"0000510193" "0" "30" "2" "170101278" "170101278" "subst" "0.000333" "01943" "LRP2_000201" "g.170101278G>T" "" "" "" "LRP2(NM_004525.3):c.3355C>A (p.H1119N, p.(His1119Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169244768G>T" "" "likely benign" ""
"0000510194" "0" "30" "2" "170103260" "170103260" "subst" "1.62442E-5" "01943" "LRP2_000202" "g.170103260C>T" "" "" "" "LRP2(NM_004525.3):c.3145G>A (p.D1049N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169246750C>T" "" "likely benign" ""
"0000510195" "0" "30" "2" "170103295" "170103295" "subst" "0.00125885" "01804" "LRP2_000085" "g.170103295C>T" "" "" "" "LRP2(NM_004525.2):c.3110G>A (p.(Arg1037Lys)), LRP2(NM_004525.3):c.3110G>A (p.R1037K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169246785C>T" "" "likely benign" ""
"0000510197" "0" "30" "2" "170103488" "170103488" "subst" "1.63296E-5" "01943" "LRP2_000203" "g.170103488C>T" "" "" "" "LRP2(NM_004525.3):c.2917G>A (p.A973T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169246978C>T" "" "likely benign" ""
"0000510198" "0" "30" "2" "170113670" "170113670" "subst" "0.00095259" "01943" "LRP2_000091" "g.170113670G>C" "" "" "" "LRP2(NM_004525.2):c.2603C>G (p.(Thr868Ser)), LRP2(NM_004525.3):c.2603C>G (p.T868S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169257160G>C" "" "likely benign" ""
"0000510199" "0" "10" "2" "170115588" "170115588" "subst" "0.546197" "02325" "LRP2_000135" "g.170115588T>C" "" "" "" "LRP2(NM_004525.3):c.2460A>G (p.T820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169259078T>C" "" "benign" ""
"0000510201" "0" "50" "2" "170127524" "170127524" "subst" "0.000708509" "01943" "LRP2_000095" "g.170127524G>A" "" "" "" "LRP2(NM_004525.2):c.2210C>T (p.(Ser737Leu)), LRP2(NM_004525.3):c.2210C>T (p.S737L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169271014G>A" "" "VUS" ""
"0000510202" "0" "50" "2" "170127556" "170127556" "subst" "0.00124594" "01943" "LRP2_000205" "g.170127556C>A" "" "" "" "LRP2(NM_004525.3):c.2178G>T (p.L726F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169271046C>A" "" "VUS" ""
"0000510203" "0" "50" "2" "170127597" "170127597" "subst" "0" "01943" "LRP2_000206" "g.170127597A>C" "" "" "" "LRP2(NM_004525.3):c.2137T>G (p.F713V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169271087A>C" "" "VUS" ""
"0000510204" "0" "30" "2" "170129474" "170129474" "subst" "0.00203942" "01943" "LRP2_000207" "g.170129474G>A" "" "" "" "LRP2(NM_004525.3):c.2079C>T (p.F693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169272964G>A" "" "likely benign" ""
"0000510206" "0" "50" "2" "170131729" "170131729" "subst" "7.32684E-5" "01943" "LRP2_000208" "g.170131729C>T" "" "" "" "LRP2(NM_004525.3):c.1792G>A (p.G598S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169275219C>T" "" "VUS" ""
"0000510207" "0" "50" "2" "170134459" "170134459" "subst" "1.22266E-5" "01943" "LRP2_000209" "g.170134459T>C" "" "" "" "LRP2(NM_004525.3):c.1568A>G (p.Y523C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169277949T>C" "" "VUS" ""
"0000510208" "0" "30" "2" "170137021" "170137021" "subst" "4.07146E-6" "01943" "LRP2_000210" "g.170137021C>A" "" "" "" "LRP2(NM_004525.3):c.1180G>T (p.A394S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169280511C>A" "" "likely benign" ""
"0000510209" "0" "30" "2" "170137025" "170137025" "subst" "0.000150739" "01943" "LRP2_000211" "g.170137025G>A" "" "" "" "LRP2(NM_004525.3):c.1176C>T (p.G392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169280515G>A" "" "likely benign" ""
"0000510210" "0" "30" "2" "170137037" "170137037" "subst" "0.00933104" "01804" "LRP2_000212" "g.170137037C>T" "" "" "" "LRP2(NM_004525.2):c.1172-8G>A (p.(=)), LRP2(NM_004525.3):c.1172-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169280527C>T" "" "likely benign" ""
"0000510213" "0" "30" "2" "170151223" "170151223" "subst" "0" "01943" "LRP2_000215" "g.170151223A>T" "" "" "" "LRP2(NM_004525.3):c.428-3T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169294713A>T" "" "likely benign" ""
"0000510214" "0" "50" "2" "170151226" "170151226" "subst" "0" "01804" "LRP2_000216" "g.170151226G>T" "" "" "" "LRP2(NM_004525.2):c.428-6C>A (p.(=)), LRP2(NM_004525.3):c.428-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169294716G>T" "" "VUS" ""
"0000510217" "0" "30" "2" "170163815" "170163815" "subst" "0.00267497" "01943" "LRP2_000218" "g.170163815C>T" "" "" "" "LRP2(NM_004525.3):c.403G>A (p.D135N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169307305C>T" "" "likely benign" ""
"0000510218" "0" "50" "2" "170175352" "170175352" "subst" "6.09335E-5" "01804" "LRP2_000219" "g.170175352T>A" "" "" "" "LRP2(NM_004525.3):c.230A>T (p.(Glu77Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169318842T>A" "" "VUS" ""
"0000510220" "0" "10" "2" "170218848" "170218848" "subst" "0.000126748" "01943" "LRP2_000114" "g.170218848G>T" "" "" "" "LRP2(NM_004525.3):c.62C>A (p.A21E, p.(Ala21Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169362338G>T" "" "benign" ""
"0000606330" "0" "30" "2" "170003304" "170003304" "subst" "6.5E-5" "01943" "LRP2_000222" "g.170003304G>A" "" "" "" "LRP2(NM_004525.3):c.12756C>T (p.D4252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169146794G>A" "" "likely benign" ""
"0000606331" "0" "30" "2" "170028544" "170028544" "subst" "0.00060517" "01943" "LRP2_000223" "g.170028544G>A" "" "" "" "LRP2(NM_004525.3):c.11244C>T (p.N3748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169172034G>A" "" "likely benign" ""
"0000606332" "0" "30" "2" "170030506" "170030506" "subst" "0.00242955" "01804" "LRP2_000028" "g.170030506C>T" "" "" "" "LRP2(NM_004525.2):c.10937G>A (p.(Arg3646His)), LRP2(NM_004525.3):c.10937G>A (p.R3646H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169173996C>T" "" "likely benign" ""
"0000606333" "0" "30" "2" "170042008" "170042008" "subst" "0.000110233" "01943" "LRP2_000165" "g.170042008C>T" "" "" "" "LRP2(NM_004525.3):c.9845+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169185498C>T" "" "likely benign" ""
"0000606334" "0" "50" "2" "170042152" "170042152" "subst" "0" "01804" "LRP2_000224" "g.170042152G>A" "" "" "" "LRP2(NM_004525.2):c.9706C>T (p.(Arg3236Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169185642G>A" "" "VUS" ""
"0000606335" "0" "50" "2" "170053496" "170053496" "subst" "2.84442E-5" "02325" "LRP2_000225" "g.170053496G>A" "" "" "" "LRP2(NM_004525.3):c.8623C>T (p.R2875C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169196986G>A" "" "VUS" ""
"0000606336" "0" "30" "2" "170055357" "170055357" "subst" "2.03181E-5" "01943" "LRP2_000226" "g.170055357A>C" "" "" "" "LRP2(NM_004525.3):c.8517T>G (p.V2839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169198847A>C" "" "likely benign" ""
"0000606337" "0" "50" "2" "170058362" "170058362" "subst" "0.00128407" "01943" "LRP2_000174" "g.170058362G>A" "" "" "" "LRP2(NM_004525.3):c.8228C>T (p.P2743L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169201852G>A" "" "VUS" ""
"0000606338" "0" "50" "2" "170063677" "170063677" "subst" "0.000567338" "01943" "LRP2_000228" "g.170063677G>A" "" "" "" "LRP2(NM_004525.3):c.6553C>T (p.L2185F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169207167G>A" "" "VUS" ""
"0000606339" "0" "30" "2" "170088296" "170088296" "subst" "5.69333E-5" "01804" "LRP2_000229" "g.170088296C>G" "" "" "" "LRP2(NM_004525.2):c.5155G>C (p.(Gly1719Arg)), LRP2(NM_004525.3):c.5155G>C (p.G1719R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169231786C>G" "" "likely benign" ""
"0000606340" "0" "30" "2" "170092439" "170092439" "subst" "0.00103161" "01943" "LRP2_000230" "g.170092439G>A" "" "" "" "LRP2(NM_004525.3):c.4831C>T (p.L1611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169235929G>A" "" "likely benign" ""
"0000606341" "0" "50" "2" "170097612" "170097612" "subst" "4.06921E-6" "01943" "LRP2_000231" "g.170097612G>A" "" "" "" "LRP2(NM_004525.3):c.3931C>T (p.R1311C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169241102G>A" "" "VUS" ""
"0000606342" "0" "30" "2" "170101207" "170101207" "subst" "0" "01804" "LRP2_000232" "g.170101207G>C" "" "" "" "LRP2(NM_004525.2):c.3426C>G (p.(Asn1142Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169244697G>C" "" "likely benign" ""
"0000606343" "0" "50" "2" "170112698" "170112698" "subst" "4.06653E-6" "02325" "LRP2_000089" "g.170112698G>C" "" "" "" "LRP2(NM_004525.2):c.2688C>G (p.(His896Gln)), LRP2(NM_004525.3):c.2688C>G (p.H896Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169256188G>C" "" "VUS" ""
"0000606344" "0" "50" "2" "170113671" "170113671" "subst" "6.10704E-5" "01804" "LRP2_000233" "g.170113671T>A" "" "" "" "LRP2(NM_004525.2):c.2602A>T (p.(Thr868Ser)), LRP2(NM_004525.3):c.2602A>T (p.T868S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169257161T>A" "" "VUS" ""
"0000606345" "0" "30" "2" "170115706" "170115706" "subst" "7.33496E-5" "01804" "LRP2_000234" "g.170115706T>C" "" "" "" "LRP2(NM_004525.2):c.2342A>G (p.(Asn781Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169259196T>C" "" "likely benign" ""
"0000606346" "0" "30" "2" "170151226" "170151226" "subst" "0" "01943" "LRP2_000216" "g.170151226G>T" "" "" "" "LRP2(NM_004525.2):c.428-6C>A (p.(=)), LRP2(NM_004525.3):c.428-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169294716G>T" "" "likely benign" ""
"0000620771" "0" "30" "2" "169985206" "169985206" "subst" "0.000378119" "01943" "LRP2_000221" "g.169985206G>A" "" "" "" "LRP2(NM_004525.3):c.13935C>T (p.T4645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169128696G>A" "" "likely benign" ""
"0000620772" "0" "50" "2" "170063415" "170063415" "subst" "2.43712E-5" "01943" "LRP2_000227" "g.170063415C>T" "" "" "" "LRP2(NM_004525.3):c.6815G>A (p.R2272H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169206905C>T" "" "VUS" ""
"0000620773" "0" "50" "2" "170129561" "170129561" "subst" "3.66506E-5" "01943" "LRP2_000235" "g.170129561T>C" "" "" "" "LRP2(NM_004525.3):c.1992A>G (p.K664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169273051T>C" "" "VUS" ""
"0000630961" "3" "90" "2" "170027106" "170027106" "subst" "0.000251797" "00006" "LRP2_000236" "g.170027106C>T" "" "{PMID:Santos-Cortez 2018:30167849}" "" "" "" "Germline" "" "" "0" "" "" "g.169170596C>T" "" "pathogenic (recessive)" ""
"0000630962" "3" "90" "2" "170027106" "170027106" "subst" "0.000251797" "00006" "LRP2_000236" "g.170027106C>T" "" "{PMID:Santos-Cortez 2018:30167849}" "" "" "" "Germline" "" "" "0" "" "" "g.169170596C>T" "" "pathogenic (recessive)" ""
"0000650208" "1" "50" "2" "169985338" "169985338" "subst" "0.00718728" "03575" "LRP2_000009" "g.169985338C>T" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs34564141}" "Germline" "" "rs34564141" "0" "" "" "g.169128828C>T" "" "VUS" ""
"0000650209" "1" "30" "2" "169996070" "169996070" "subst" "0.0151069" "03575" "LRP2_000013" "g.169996070C>T" "155/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "155 heterozygous; {DB:CLININrs41268685}" "Germline" "" "rs41268685" "0" "" "" "g.169139560C>T" "" "likely benign" ""
"0000650210" "1" "50" "2" "170013904" "170013904" "subst" "0.00831785" "03575" "LRP2_000021" "g.170013904A>C" "13/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs79723119}" "Germline" "" "rs79723119" "0" "" "" "g.169157394A>C" "" "VUS" ""
"0000650211" "1" "50" "2" "170022537" "170022537" "subst" "0.000796321" "03575" "LRP2_000004" "g.170022537C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs77686710}" "Germline" "" "rs77686710" "0" "" "" "g.169166027C>T" "" "VUS" ""
"0000650212" "1" "30" "2" "170060603" "170060603" "subst" "0.0293733" "03575" "LRP2_000122" "g.170060603T>C" "130/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "130 heterozygous; {DB:CLININrs17848169}" "Germline" "" "rs17848169" "0" "" "" "g.169204093T>C" "" "likely benign" ""
"0000650213" "1" "30" "2" "170062977" "170062977" "subst" "0.0128583" "03575" "LRP2_000181" "g.170062977T>C" "30/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous, no homozygous; {DB:CLININrs61995915}" "Germline" "" "rs61995915" "0" "" "" "g.169206467T>C" "" "likely benign" ""
"0000650214" "1" "90" "2" "170068598" "170068598" "subst" "0.000992039" "03575" "LRP2_000001" "g.170068598C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs138269726}" "Germline" "" "rs138269726" "0" "" "" "g.169212088C>T" "" "pathogenic" ""
"0000650215" "1" "30" "2" "170070172" "170070172" "subst" "0.0262996" "03575" "LRP2_000237" "g.170070172C>T" "72/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "72 heterozygous; {DB:CLININrs4667596}" "Germline" "" "rs4667596" "0" "" "" "g.169213662C>T" "" "likely benign" ""
"0000650216" "1" "50" "2" "170083033" "170083033" "subst" "0.00218102" "03575" "LRP2_000065" "g.170083033C>T" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs116456291}" "Germline" "" "rs116456291" "0" "" "" "g.169226523C>T" "" "VUS" ""
"0000650217" "1" "50" "2" "170103418" "170103418" "subst" "0" "03575" "LRP2_000238" "g.170103418C>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs201115003}" "Germline" "" "rs201115003" "0" "" "" "g.169246908C>A" "" "VUS" ""
"0000650218" "1" "30" "2" "170129547" "170129547" "subst" "0.0282363" "03575" "LRP2_000137" "g.170129547C>T" "128/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "128 heterozygous; {DB:CLININrs34291900}" "Germline" "" "rs34291900" "0" "" "" "g.169273037C>T" "" "likely benign" ""
"0000650219" "1" "50" "2" "170131548" "170131548" "subst" "0.000692058" "03575" "LRP2_000098" "g.170131548T>C" "11/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs111360923}" "Germline" "" "rs111360923" "0" "" "" "g.169275038T>C" "" "VUS" ""
"0000650220" "1" "10" "2" "170137037" "170137037" "subst" "0.00933104" "03575" "LRP2_000212" "g.170137037C>T" "9/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs115371758}" "Germline" "" "rs115371758" "0" "" "" "g.169280527C>T" "" "benign" ""
"0000654275" "0" "30" "2" "169985338" "169985338" "subst" "0.00718728" "01943" "LRP2_000009" "g.169985338C>T" "" "" "" "LRP2(NM_004525.2):c.13803G>A (p.(Met4601Ile)), LRP2(NM_004525.3):c.13803G>A (p.M4601I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169128828C>T" "" "likely benign" ""
"0000654276" "0" "30" "2" "170012824" "170012824" "subst" "2.43784E-5" "01943" "LRP2_000239" "g.170012824C>T" "" "" "" "LRP2(NM_004525.3):c.12111G>A (p.T4037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169156314C>T" "" "likely benign" ""
"0000654277" "0" "30" "2" "170030506" "170030506" "subst" "0.00242955" "01943" "LRP2_000028" "g.170030506C>T" "" "" "" "LRP2(NM_004525.2):c.10937G>A (p.(Arg3646His)), LRP2(NM_004525.3):c.10937G>A (p.R3646H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169173996C>T" "" "likely benign" ""
"0000654278" "0" "50" "2" "170048373" "170048373" "subst" "0" "01943" "LRP2_000240" "g.170048373C>A" "" "" "" "LRP2(NM_004525.3):c.9001G>T (p.G3001C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169191863C>A" "" "VUS" ""
"0000654279" "0" "90" "2" "170059380" "170059380" "subst" "0" "01943" "LRP2_000241" "g.170059380G>A" "" "" "" "LRP2(NM_004525.3):c.8095C>T (p.R2699*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169202870G>A" "" "pathogenic" ""
"0000654280" "0" "30" "2" "170099526" "170099526" "subst" "0.000190878" "01943" "LRP2_000200" "g.170099526C>T" "" "" "" "LRP2(NM_004525.3):c.3607G>A (p.V1203I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169243016C>T" "" "likely benign" ""
"0000654281" "0" "10" "2" "170151249" "170151250" "del" "0" "01943" "LRP2_000105" "g.170151249_170151250del" "" "" "" "LRP2(NM_004525.3):c.428-9_428-8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169294739_169294740del" "" "benign" ""
"0000669529" "3" "30" "2" "169996070" "169996070" "subst" "0.0151069" "03575" "LRP2_000013" "g.169996070C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs41268685}" "Germline" "" "rs41268685" "0" "" "" "g.169139560C>T" "" "likely benign" ""
"0000669530" "3" "30" "2" "170060603" "170060603" "subst" "0.0293733" "03575" "LRP2_000122" "g.170060603T>C" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs17848169}" "Germline" "" "rs17848169" "0" "" "" "g.169204093T>C" "" "likely benign" ""
"0000669531" "3" "30" "2" "170070172" "170070172" "subst" "0.0262996" "03575" "LRP2_000237" "g.170070172C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs4667596}" "Germline" "" "rs4667596" "0" "" "" "g.169213662C>T" "" "likely benign" ""
"0000669532" "3" "30" "2" "170129547" "170129547" "subst" "0.0282363" "03575" "LRP2_000137" "g.170129547C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs34291900}" "Germline" "" "rs34291900" "0" "" "" "g.169273037C>T" "" "likely benign" ""
"0000676103" "0" "10" "2" "169994041" "169994044" "del" "0" "02326" "LRP2_000242" "g.169994041_169994044del" "" "" "" "LRP2(NM_004525.3):c.13519-22_13519-19delCTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000676104" "0" "30" "2" "170003264" "170003264" "subst" "0" "01943" "LRP2_000243" "g.170003264C>T" "" "" "" "LRP2(NM_004525.3):c.12796G>A (p.V4266I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000676105" "0" "30" "2" "170009390" "170009390" "subst" "0.00248293" "02326" "LRP2_000151" "g.170009390C>T" "" "" "" "LRP2(NM_004525.2):c.12380G>A (p.(Arg4127His)), LRP2(NM_004525.3):c.12380G>A (p.R4127H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000676106" "0" "50" "2" "170027106" "170027106" "subst" "0.000251797" "01943" "LRP2_000236" "g.170027106C>T" "" "" "" "LRP2(NM_004525.3):c.11335G>A (p.D3779N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000676107" "0" "50" "2" "170032945" "170032945" "subst" "2.84329E-5" "01943" "LRP2_000244" "g.170032945T>C" "" "" "" "LRP2(NM_004525.3):c.10547A>G (p.Q3516R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000676108" "0" "30" "2" "170059343" "170059343" "subst" "0.00017471" "01943" "LRP2_000049" "g.170059343C>T" "" "" "" "LRP2(NM_004525.3):c.8132G>A (p.R2711H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000676109" "0" "50" "2" "170068489" "170068489" "subst" "2.85491E-5" "01943" "LRP2_000245" "g.170068489A>G" "" "" "" "LRP2(NM_004525.3):c.6269T>C (p.V2090A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000676110" "0" "30" "2" "170088242" "170088242" "subst" "0.0011801" "01943" "LRP2_000002" "g.170088242G>A" "" "" "" "LRP2(NM_004525.3):c.5209C>T (p.L1737F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000676111" "0" "50" "2" "170103223" "170103223" "subst" "2.84296E-5" "01804" "LRP2_000246" "g.170103223C>G" "" "" "" "LRP2(NM_004525.2):c.3182G>C (p.(Gly1061Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000688387" "0" "30" "2" "170026231" "170026231" "subst" "0.000130022" "01943" "LRP2_000247" "g.170026231C>T" "" "" "" "LRP2(NM_004525.3):c.11478G>A (p.A3826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000688388" "0" "30" "2" "170027119" "170027119" "subst" "0.000296485" "01943" "LRP2_000248" "g.170027119C>T" "" "" "" "LRP2(NM_004525.3):c.11322G>A (p.S3774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000688389" "0" "50" "2" "170053532" "170053532" "subst" "0" "01943" "LRP2_000249" "g.170053532T>G" "" "" "" "LRP2(NM_004525.3):c.8587A>C (p.T2863P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000688390" "0" "50" "2" "170063372" "170063372" "subst" "0.000840957" "01943" "LRP2_000056" "g.170063372A>T" "" "" "" "LRP2(NM_004525.3):c.6858T>A (p.F2286L, p.(Phe2286Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000688391" "0" "50" "2" "170070223" "170070223" "subst" "0" "01943" "LRP2_000063" "g.170070223A>G" "" "" "" "LRP2(NM_004525.3):c.5984T>C (p.I1995T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000688392" "0" "30" "2" "170088296" "170088296" "subst" "5.69333E-5" "01943" "LRP2_000229" "g.170088296C>G" "" "" "" "LRP2(NM_004525.2):c.5155G>C (p.(Gly1719Arg)), LRP2(NM_004525.3):c.5155G>C (p.G1719R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000688393" "0" "30" "2" "170094737" "170094737" "subst" "0" "01943" "LRP2_000250" "g.170094737T>C" "" "" "" "LRP2(NM_004525.3):c.4370A>G (p.N1457S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000688394" "0" "30" "2" "170097655" "170097655" "subst" "7.31844E-5" "01943" "LRP2_000251" "g.170097655G>A" "" "" "" "LRP2(NM_004525.3):c.3888C>T (p.C1296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000688395" "0" "30" "2" "170113671" "170113671" "subst" "6.10704E-5" "01943" "LRP2_000233" "g.170113671T>A" "" "" "" "LRP2(NM_004525.2):c.2602A>T (p.(Thr868Ser)), LRP2(NM_004525.3):c.2602A>T (p.T868S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000688396" "0" "30" "2" "170115713" "170115713" "subst" "9.37849E-5" "01943" "LRP2_000204" "g.170115713C>T" "" "" "" "LRP2(NM_004525.3):c.2335G>A (p.A779T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000688397" "0" "50" "2" "170127566" "170127566" "subst" "0.000162892" "01943" "LRP2_000252" "g.170127566G>A" "" "" "" "LRP2(NM_004525.3):c.2168C>T (p.P723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000688398" "0" "50" "2" "170163883" "170163883" "subst" "1.62645E-5" "01943" "LRP2_000253" "g.170163883T>C" "" "" "" "LRP2(NM_004525.3):c.335A>G (p.Q112R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000713628" "0" "90" "2" "170042125" "170042125" "subst" "0" "00000" "LRP2_000254" "g.170042125C>A" "" "{PMID:Carss 2017:28041643}" "" "2:170042125C>A ENST00000263816.3:c.9733G>T (Asp3245Tyr)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713880" "0" "90" "2" "170092537" "170092537" "subst" "0" "00000" "LRP2_000255" "g.170092537C>G" "" "{PMID:Carss 2017:28041643}" "" "2:170092537C>G ENST00000263816.3:c.4733G>C (Arg1578Pro)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000717974" "0" "50" "2" "170002322" "170002322" "subst" "6.09518E-5" "02329" "LRP2_000015" "g.170002322G>A" "" "" "" "LRP2(NM_004525.3):c.12923C>T (p.T4308M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717975" "0" "30" "2" "170009350" "170009350" "subst" "0.000239777" "01943" "LRP2_000256" "g.170009350G>A" "" "" "" "LRP2(NM_004525.3):c.12420C>T (p.Y4140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717976" "0" "30" "2" "170009394" "170009394" "subst" "2.03173E-5" "01943" "LRP2_000018" "g.170009394C>T" "" "" "" "LRP2(NM_004525.2):c.12376G>A (p.(Gly4126Ser)), LRP2(NM_004525.3):c.12376G>A (p.G4126S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717977" "0" "50" "2" "170019018" "170019018" "subst" "2.03227E-5" "01943" "LRP2_000257" "g.170019018C>T" "" "" "" "LRP2(NM_004525.3):c.11851G>A (p.D3951N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717978" "0" "30" "2" "170042024" "170042024" "subst" "6.51891E-5" "01943" "LRP2_000258" "g.170042024G>A" "" "" "" "LRP2(NM_004525.3):c.9834C>T (p.D3278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717979" "0" "50" "2" "170055416" "170055416" "subst" "0.000402776" "01943" "LRP2_000173" "g.170055416G>T" "" "" "" "LRP2(NM_004525.3):c.8458C>A (p.R2820S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717980" "0" "50" "2" "170063488" "170063488" "subst" "3.65773E-5" "01943" "LRP2_000259" "g.170063488C>T" "" "" "" "LRP2(NM_004525.3):c.6742G>A (p.V2248I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717981" "0" "30" "2" "170092467" "170092467" "subst" "0.00078396" "01943" "LRP2_000260" "g.170092467G>A" "" "" "" "LRP2(NM_004525.3):c.4803C>T (p.C1601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717982" "0" "50" "2" "170103382" "170103382" "subst" "0" "01943" "LRP2_000261" "g.170103382G>A" "" "" "" "LRP2(NM_004525.3):c.3023C>T (p.S1008F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717983" "0" "30" "2" "170131739" "170131739" "subst" "0" "01943" "LRP2_000262" "g.170131739T>C" "" "" "" "LRP2(NM_004525.3):c.1782A>G (p.V594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717984" "0" "50" "2" "170175349" "170175349" "subst" "1.62489E-5" "01943" "LRP2_000263" "g.170175349C>G" "" "" "" "LRP2(NM_004525.3):c.233G>C (p.G78A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799807" "0" "30" "2" "169985308" "169985308" "subst" "8.1324E-6" "01943" "LRP2_000264" "g.169985308C>T" "" "" "" "LRP2(NM_004525.3):c.13833G>A (p.A4611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799808" "0" "10" "2" "169994043" "169994044" "del" "0" "02329" "LRP2_000011" "g.169994043_169994044del" "" "" "" "LRP2(NM_004525.3):c.13519-20_13519-19delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000799809" "0" "30" "2" "170013975" "170013975" "subst" "0.000101788" "01943" "LRP2_000265" "g.170013975G>A" "" "" "" "LRP2(NM_004525.3):c.11925C>T (p.C3975=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799810" "0" "50" "2" "170025082" "170025082" "subst" "4.06256E-6" "01943" "LRP2_000266" "g.170025082C>T" "" "" "" "LRP2(NM_004525.3):c.11602G>A (p.G3868S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799811" "0" "50" "2" "170027153" "170027153" "subst" "0.000223408" "01943" "LRP2_000267" "g.170027153T>A" "" "" "" "LRP2(NM_004525.3):c.11288A>T (p.E3763V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799812" "0" "30" "2" "170029724" "170029724" "subst" "0" "01943" "LRP2_000268" "g.170029724G>C" "" "" "" "LRP2(NM_004525.3):c.11025C>G (p.A3675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799813" "0" "50" "2" "170031768" "170031768" "subst" "8.12599E-6" "01943" "LRP2_000269" "g.170031768G>A" "" "" "" "LRP2(NM_004525.3):c.10703C>T (p.P3568L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799814" "0" "30" "2" "170034473" "170034473" "subst" "0.000442837" "01943" "LRP2_000270" "g.170034473G>A" "" "" "" "LRP2(NM_004525.3):c.10233C>T (p.F3411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799815" "0" "30" "2" "170038097" "170038097" "subst" "0.00041841" "01943" "LRP2_000271" "g.170038097C>T" "" "" "" "LRP2(NM_004525.3):c.10030G>A (p.A3344T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799816" "0" "30" "2" "170038694" "170038694" "subst" "0.000227542" "01943" "LRP2_000272" "g.170038694G>C" "" "" "" "LRP2(NM_004525.3):c.9981C>G (p.A3327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799817" "0" "50" "2" "170050399" "170050399" "subst" "1.21845E-5" "01943" "LRP2_000045" "g.170050399T>C" "" "" "" "LRP2(NM_004525.2):c.8702A>G (p.(His2901Arg)), LRP2(NM_004525.3):c.8702A>G (p.H2901R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799818" "0" "30" "2" "170050410" "170050410" "subst" "0.00530087" "01943" "LRP2_000046" "g.170050410G>A" "" "" "" "LRP2(NM_004525.2):c.8699-8C>T (p.(=)), LRP2(NM_004525.3):c.8699-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799819" "0" "50" "2" "170055361" "170055361" "subst" "2.84474E-5" "01943" "LRP2_000273" "g.170055361C>T" "" "" "" "LRP2(NM_004525.3):c.8513G>A (p.R2838H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799820" "0" "30" "2" "170062573" "170062573" "subst" "0.000195309" "01943" "LRP2_000274" "g.170062573C>T" "" "" "" "LRP2(NM_004525.3):c.7516G>A (p.V2506I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799821" "0" "50" "2" "170063446" "170063446" "subst" "2.84368E-5" "01943" "LRP2_000275" "g.170063446G>A" "" "" "" "LRP2(NM_004525.3):c.6784C>T (p.R2262C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799822" "0" "30" "2" "170065946" "170065946" "subst" "0" "02329" "LRP2_000276" "g.170065946C>T" "" "" "" "LRP2(NM_004525.3):c.6469+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799823" "0" "30" "2" "170070233" "170070233" "subst" "0" "01943" "LRP2_000277" "g.170070233C>T" "" "" "" "LRP2(NM_004525.3):c.5974G>A (p.A1992T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799824" "0" "50" "2" "170088305" "170088305" "subst" "4.06577E-6" "01943" "LRP2_000278" "g.170088305A>C" "" "" "" "LRP2(NM_004525.2):c.5146T>G (p.(Ser1716Ala)), LRP2(NM_004525.3):c.5146T>G (p.S1716A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799825" "0" "30" "2" "170096239" "170096239" "subst" "7.31493E-5" "01943" "LRP2_000279" "g.170096239A>G" "" "" "" "LRP2(NM_004525.3):c.4092T>C (p.C1364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799826" "0" "30" "2" "170101321" "170101321" "subst" "6.09221E-5" "01943" "LRP2_000280" "g.170101321G>A" "" "" "" "LRP2(NM_004525.3):c.3312C>T (p.H1104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799827" "0" "30" "2" "170103472" "170103472" "subst" "0.00388083" "02326" "LRP2_000003" "g.170103472G>A" "" "" "" "LRP2(NM_004525.3):c.2933C>T (p.T978M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799828" "0" "50" "2" "170103983" "170103983" "subst" "0.000134025" "01943" "LRP2_000281" "g.170103983C>T" "" "" "" "LRP2(NM_004525.3):c.2813G>A (p.R938Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799829" "0" "30" "2" "170115613" "170115613" "subst" "5.28666E-5" "01943" "LRP2_000282" "g.170115613C>T" "" "" "" "LRP2(NM_004525.3):c.2435G>A (p.R812K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799830" "0" "30" "2" "170127460" "170127460" "subst" "0" "01943" "LRP2_000283" "g.170127460T>A" "" "" "" "LRP2(NM_004525.3):c.2274A>T (p.S758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799831" "0" "30" "2" "170127556" "170127556" "subst" "0.00124594" "02326" "LRP2_000205" "g.170127556C>A" "" "" "" "LRP2(NM_004525.3):c.2178G>T (p.L726F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799832" "0" "50" "2" "170129473" "170129473" "subst" "1.22111E-5" "01943" "LRP2_000284" "g.170129473C>T" "" "" "" "LRP2(NM_004525.3):c.2080G>A (p.G694S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799833" "0" "30" "2" "170136118" "170136118" "subst" "8.70488E-5" "02329" "LRP2_000285" "g.170136118C>T" "" "" "" "LRP2(NM_004525.3):c.1342-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799834" "0" "10" "2" "170151245" "170151250" "del" "0" "02329" "LRP2_000286" "g.170151245_170151250del" "" "" "" "LRP2(NM_004525.3):c.428-13_428-8delTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000799835" "0" "50" "2" "170177287" "170177287" "subst" "2.84315E-5" "01943" "LRP2_000287" "g.170177287C>T" "" "" "" "LRP2(NM_004525.3):c.187G>A (p.A63T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799836" "0" "30" "2" "170177303" "170177303" "subst" "0" "01943" "LRP2_000288" "g.170177303C>T" "" "" "" "LRP2(NM_004525.3):c.171G>A (p.A57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000821290" "0" "70" "2" "170092537" "170092537" "subst" "0" "00000" "LRP2_000255" "g.170092537C>G" "" "{PMID:Turro 2020:32581362}" "" "LRP2 c.4733G>C, p.Arg1578Pro" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.169236027C>G" "" "likely pathogenic" ""
"0000821570" "0" "70" "2" "170042125" "170042125" "subst" "0" "00000" "LRP2_000254" "g.170042125C>A" "" "{PMID:Turro 2020:32581362}" "" "LRP2 c.9733G>T, p.Asp3245Tyr" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.169185615C>A" "" "likely pathogenic" ""
"0000849061" "0" "30" "2" "170002261" "170002261" "subst" "4.06372E-6" "01943" "LRP2_000290" "g.170002261C>T" "" "" "" "LRP2(NM_004525.3):c.12984G>A (p.K4328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000849062" "0" "30" "2" "170019082" "170019082" "subst" "2.03201E-5" "01943" "LRP2_000292" "g.170019082T>C" "" "" "" "LRP2(NM_004525.3):c.11787A>G (p.T3929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000849063" "0" "50" "2" "170027147" "170027147" "subst" "4.0618E-6" "02327" "LRP2_000294" "g.170027147C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000849064" "0" "50" "2" "170048384" "170048384" "subst" "2.03226E-5" "01943" "LRP2_000295" "g.170048384T>C" "" "" "" "LRP2(NM_004525.3):c.8990A>G (p.E2997G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000849065" "0" "50" "2" "170058317" "170058317" "subst" "8.12486E-6" "01943" "LRP2_000297" "g.170058317T>C" "" "" "" "LRP2(NM_004525.3):c.8273A>G (p.Y2758C, p.(Tyr2758Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000849066" "0" "30" "2" "170059247" "170059247" "subst" "0.00132459" "02329" "LRP2_000298" "g.170059247C>T" "" "" "" "LRP2(NM_004525.3):c.8209+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000849067" "0" "30" "2" "170100029" "170100029" "subst" "0.00206316" "02326" "LRP2_000301" "g.170100029G>A" "" "" "" "LRP2(NM_004525.3):c.3434C>T (p.S1145L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000849068" "0" "30" "2" "170129474" "170129474" "subst" "0.00203942" "02326" "LRP2_000207" "g.170129474G>A" "" "" "" "LRP2(NM_004525.3):c.2079C>T (p.F693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000849069" "0" "90" "2" "170131601" "170131601" "del" "0" "01943" "LRP2_000302" "g.170131601del" "" "" "" "LRP2(NM_004525.3):c.1921delG (p.A641Lfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000849070" "0" "90" "2" "170136962" "170136962" "del" "0" "02327" "LRP2_000303" "g.170136962del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000849071" "0" "30" "2" "170151248" "170151250" "del" "0" "02326" "LRP2_000104" "g.170151248_170151250del" "" "" "" "LRP2(NM_004525.3):c.428-10_428-8delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000849072" "0" "10" "2" "170151249" "170151250" "del" "0" "02329" "LRP2_000105" "g.170151249_170151250del" "" "" "" "LRP2(NM_004525.3):c.428-9_428-8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000849073" "0" "30" "2" "170163827" "170163827" "subst" "0.00157721" "02326" "LRP2_000106" "g.170163827T>C" "" "" "" "LRP2(NM_004525.3):c.391A>G (p.R131G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857852" "0" "30" "2" "169985220" "169985220" "subst" "0.000292681" "01943" "LRP2_000008" "g.169985220T>A" "" "" "" "LRP2(NM_004525.3):c.13921A>T (p.T4641S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857853" "0" "30" "2" "169985260" "169985260" "subst" "0" "01943" "LRP2_000289" "g.169985260C>G" "" "" "" "LRP2(NM_004525.3):c.13881G>C (p.S4627=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857854" "0" "30" "2" "170003398" "170003398" "subst" "4.06326E-6" "01943" "LRP2_000291" "g.170003398T>C" "" "" "" "LRP2(NM_004525.3):c.12662A>G (p.N4221S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857855" "0" "10" "2" "170012780" "170012780" "subst" "0.00718238" "02329" "LRP2_000155" "g.170012780A>G" "" "" "" "LRP2(NM_004525.3):c.12151+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000857856" "0" "10" "2" "170019121" "170019121" "subst" "0.00713466" "02329" "LRP2_000293" "g.170019121A>C" "" "" "" "LRP2(NM_004525.3):c.11759-11T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000857857" "0" "50" "2" "170050321" "170050321" "subst" "4.06108E-6" "01943" "LRP2_000296" "g.170050321C>T" "" "" "" "LRP2(NM_004525.3):c.8780G>A (p.G2927D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857858" "0" "50" "2" "170053496" "170053496" "subst" "2.84442E-5" "02327" "LRP2_000225" "g.170053496G>A" "" "" "" "LRP2(NM_004525.3):c.8623C>T (p.R2875C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857859" "0" "50" "2" "170068582" "170068582" "subst" "0.00021551" "01943" "LRP2_000060" "g.170068582G>A" "" "" "" "LRP2(NM_004525.3):c.6176C>T (p.S2059F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857860" "0" "50" "2" "170090014" "170090014" "subst" "0.000174641" "01943" "LRP2_000299" "g.170090014T>C" "" "" "" "LRP2(NM_004525.3):c.5005A>G (p.N1669D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857861" "0" "30" "2" "170092515" "170092515" "subst" "0.00012599" "01943" "LRP2_000300" "g.170092515G>A" "" "" "" "LRP2(NM_004525.3):c.4755C>T (p.D1585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857862" "0" "50" "2" "170139413" "170139413" "subst" "0" "02327" "LRP2_000304" "g.170139413G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857863" "0" "50" "2" "170139460" "170139460" "subst" "4.06339E-6" "01943" "LRP2_000305" "g.170139460C>T" "" "" "" "LRP2(NM_004525.3):c.1094G>A (p.R365Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857864" "0" "50" "2" "170145557" "170145557" "subst" "4.06266E-6" "01943" "LRP2_000306" "g.170145557T>C" "" "" "" "LRP2(NM_004525.3):c.1021A>G (p.N341D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883906" "0" "10" "2" "170003237" "170003237" "subst" "0.00157776" "02329" "LRP2_000307" "g.170003237C>T" "" "" "" "LRP2(NM_004525.3):c.12811+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000883907" "0" "30" "2" "170048556" "170048556" "subst" "0.000446524" "02329" "LRP2_000308" "g.170048556C>T" "" "" "" "LRP2(NM_004525.3):c.8831-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000883908" "0" "10" "2" "170068713" "170068713" "subst" "0.00444425" "02329" "LRP2_000309" "g.170068713G>A" "" "" "" "LRP2(NM_004525.3):c.6045C>T (p.A2015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000883909" "0" "30" "2" "170092467" "170092467" "subst" "0.00078396" "02326" "LRP2_000260" "g.170092467G>A" "" "" "" "LRP2(NM_004525.3):c.4803C>T (p.C1601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000883910" "0" "10" "2" "170094763" "170094763" "subst" "0.00429434" "02329" "LRP2_000310" "g.170094763G>C" "" "" "" "LRP2(NM_004525.3):c.4344C>G (p.A1448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000883911" "0" "10" "2" "170131652" "170131652" "subst" "0.000593795" "02329" "LRP2_000311" "g.170131652G>A" "" "" "" "LRP2(NM_004525.3):c.1869C>T (p.A623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000883912" "0" "50" "2" "170218826" "170218826" "subst" "0" "01804" "LRP2_000312" "g.170218826C>G" "" "" "" "LRP2(NM_004525.2):c.79+5G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000905941" "0" "50" "2" "170103996" "170103996" "subst" "4.06144E-6" "00000" "LRP2_000313" "g.170103996C>T" "" "{PMID:Zhu 2022:35456422}" "" "LRP2 c.2800G>A, p.(Gly934Ser)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.169247486C>T" "" "VUS" "ACMG"
"0000908724" "0" "70" "2" "170027153" "170027153" "subst" "0.000223408" "00006" "LRP2_000267" "g.170027153T>A" "" "{PMID:Palmer 2022:36385166}" "" "A11288T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.169170643T>A" "" "VUS" ""
"0000911240" "0" "50" "2" "170019059" "170019059" "subst" "8.12843E-6" "02327" "LRP2_000314" "g.170019059T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000911241" "0" "30" "2" "170048473" "170048473" "subst" "0.00054468" "02327" "LRP2_000043" "g.170048473G>C" "" "" "" "LRP2(NM_004525.3):c.8901C>G (p.P2967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000911242" "0" "10" "2" "170063263" "170063263" "subst" "0.00371309" "02326" "LRP2_000124" "g.170063263G>A" "" "" "" "LRP2(NM_004525.3):c.6967C>T (p.L2323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000911243" "0" "30" "2" "170063380" "170063380" "subst" "0.00212868" "02326" "LRP2_000057" "g.170063380T>C" "" "" "" "LRP2(NM_004525.2):c.6850A>G (p.(Thr2284Ala)), LRP2(NM_004525.3):c.6850A>G (p.T2284A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000911244" "0" "10" "2" "170082936" "170082936" "subst" "0.00249434" "02326" "LRP2_000193" "g.170082936T>C" "" "" "" "LRP2(NM_004525.3):c.5390A>G (p.N1797S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000911245" "0" "30" "2" "170103870" "170103870" "subst" "0.00177429" "02326" "LRP2_000315" "g.170103870C>T" "" "" "" "LRP2(NM_004525.3):c.2908+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000911246" "0" "50" "2" "170135885" "170135885" "subst" "4.07451E-6" "02327" "LRP2_000316" "g.170135885A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000911247" "0" "10" "2" "170137037" "170137037" "subst" "0.00933104" "02329" "LRP2_000212" "g.170137037C>T" "" "" "" "LRP2(NM_004525.2):c.1172-8G>A (p.(=)), LRP2(NM_004525.3):c.1172-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000923342" "0" "10" "2" "170013904" "170013904" "subst" "0.00831785" "02329" "LRP2_000021" "g.170013904A>C" "" "" "" "LRP2(NM_004525.3):c.11996T>G (p.V3999G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000928312" "0" "30" "2" "170009391" "170009391" "subst" "0.00308815" "02329" "LRP2_000017" "g.170009391G>T" "" "" "" "LRP2(NM_004525.3):c.12379C>A (p.R4127S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000928313" "0" "30" "2" "170037962" "170037962" "subst" "0.00205552" "02326" "LRP2_000035" "g.170037962T>C" "" "" "" "LRP2(NM_004525.2):c.10165A>G (p.(Ile3389Val)), LRP2(NM_004525.3):c.10165A>G (p.I3389V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000928314" "0" "30" "2" "170042208" "170042208" "subst" "0.000906792" "02326" "LRP2_000039" "g.170042208T>C" "" "" "" "LRP2(NM_004525.3):c.9650A>G (p.Y3217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000928315" "0" "30" "2" "170093597" "170093597" "subst" "0.000138436" "02329" "LRP2_000317" "g.170093597T>A" "" "" "" "LRP2(NM_004525.3):c.4691+16A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000947411" "0" "30" "2" "170030506" "170030506" "subst" "0.00242955" "02329" "LRP2_000028" "g.170030506C>T" "" "" "" "LRP2(NM_004525.2):c.10937G>A (p.(Arg3646His)), LRP2(NM_004525.3):c.10937G>A (p.R3646H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000947412" "0" "30" "2" "170048473" "170048473" "subst" "0.00054468" "02326" "LRP2_000043" "g.170048473G>C" "" "" "" "LRP2(NM_004525.3):c.8901C>G (p.P2967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000947413" "0" "30" "2" "170092439" "170092439" "subst" "0.00103161" "02329" "LRP2_000230" "g.170092439G>A" "" "" "" "LRP2(NM_004525.3):c.4831C>T (p.L1611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000960281" "3" "50" "2" "170025181" "170025181" "subst" "3.65735E-5" "00006" "LRP2_000318" "g.170025181G>A" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.169168671G>A" "1469182" "VUS" ""
"0000961428" "0" "30" "2" "170027191" "170027191" "subst" "0.000426784" "02326" "LRP2_000025" "g.170027191G>C" "" "" "" "LRP2(NM_004525.3):c.11264-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000961431" "0" "10" "2" "170089934" "170089934" "subst" "0.0089103" "02329" "LRP2_000129" "g.170089934C>T" "" "" "" "LRP2(NM_004525.3):c.5085G>A (p.S1695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000961436" "0" "10" "2" "170151250" "170151250" "del" "0" "02329" "LRP2_000321" "g.170151250del" "" "" "" "LRP2(NM_004525.3):c.428-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000974445" "0" "30" "2" "170009391" "170009391" "subst" "0.00308815" "02326" "LRP2_000017" "g.170009391G>T" "" "" "" "LRP2(NM_004525.3):c.12379C>A (p.R4127S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000974446" "0" "50" "2" "170026206" "170026206" "subst" "8.12757E-6" "01804" "LRP2_000322" "g.170026206A>T" "" "" "" "LRP2(NM_004525.2):c.11497+6T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974447" "0" "50" "2" "170026248" "170026248" "subst" "4.87563E-5" "01804" "LRP2_000323" "g.170026248C>T" "" "" "" "LRP2(NM_004525.3):c.11461G>A (p.(Ala3821Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974448" "0" "50" "2" "170028611" "170028611" "subst" "4.46773E-5" "01804" "LRP2_000118" "g.170028611C>T" "" "" "" "LRP2(NM_004525.3):c.11177G>A (p.(Arg3726His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974449" "0" "50" "2" "170032949" "170032949" "subst" "0" "01804" "LRP2_000324" "g.170032949T>G" "" "" "" "LRP2(NM_004525.3):c.10543A>C (p.(Thr3515Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974450" "0" "50" "2" "170033072" "170033072" "subst" "0" "01804" "LRP2_000325" "g.170033072C>T" "" "" "" "LRP2(NM_004525.3):c.10420G>A (p.(Gly3474Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974451" "0" "30" "2" "170042532" "170042532" "subst" "8.17762E-6" "01804" "LRP2_000326" "g.170042532G>A" "" "" "" "LRP2(NM_004525.3):c.9329-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000974452" "0" "50" "2" "170044768" "170044768" "subst" "0.000175127" "01804" "LRP2_000327" "g.170044768G>A" "" "" "" "LRP2(NM_004525.3):c.9040C>T (p.(Arg3014Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974453" "0" "50" "2" "170053486" "170053486" "subst" "2.03135E-5" "01804" "LRP2_000328" "g.170053486G>A" "" "" "" "LRP2(NM_004525.3):c.8633C>T (p.(Pro2878Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974454" "0" "50" "2" "170053531" "170053531" "subst" "4.47249E-5" "01804" "LRP2_000329" "g.170053531G>A" "" "" "" "LRP2(NM_004525.3):c.8588C>T (p.(Thr2863Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974455" "0" "50" "2" "170058317" "170058317" "subst" "8.12486E-6" "01804" "LRP2_000297" "g.170058317T>C" "" "" "" "LRP2(NM_004525.3):c.8273A>G (p.Y2758C, p.(Tyr2758Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974456" "0" "50" "2" "170060750" "170060750" "subst" "0.000647384" "01804" "LRP2_000051" "g.170060750C>T" "" "" "" "LRP2(NM_004525.3):c.7747G>A (p.(Val2583Met), p.V2583M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974457" "0" "50" "2" "170063292" "170063292" "subst" "0.000138133" "01804" "LRP2_000330" "g.170063292G>A" "" "" "" "LRP2(NM_004525.3):c.6938C>T (p.(Pro2313Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974458" "0" "50" "2" "170063372" "170063372" "subst" "0.000840957" "01804" "LRP2_000056" "g.170063372A>T" "" "" "" "LRP2(NM_004525.3):c.6858T>A (p.F2286L, p.(Phe2286Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974459" "0" "50" "2" "170063398" "170063398" "subst" "4.0624E-6" "01804" "LRP2_000331" "g.170063398G>A" "" "" "" "LRP2(NM_004525.3):c.6832C>T (p.(Pro2278Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974460" "0" "50" "2" "170063646" "170063646" "subst" "4.08924E-6" "01804" "LRP2_000332" "g.170063646A>G" "" "" "" "LRP2(NM_004525.2):c.6584T>C (p.(Ile2195Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974461" "0" "50" "2" "170066064" "170066064" "subst" "4.06795E-6" "01804" "LRP2_000333" "g.170066064G>A" "" "" "" "LRP2(NM_004525.3):c.6368C>T (p.(Ala2123Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974462" "0" "50" "2" "170072808" "170072808" "subst" "1.62827E-5" "01804" "LRP2_000334" "g.170072808G>C" "" "" "" "LRP2(NM_004525.3):c.5781C>G (p.(Asp1927Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974463" "0" "50" "2" "170077051" "170077051" "subst" "4.07714E-6" "01804" "LRP2_000335" "g.170077051A>G" "" "" "" "LRP2(NM_004525.3):c.5561T>C (p.(Ile1854Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974464" "0" "50" "2" "170092421" "170092421" "subst" "1.21831E-5" "01804" "LRP2_000336" "g.170092421A>T" "" "" "" "LRP2(NM_004525.3):c.4849T>A (p.(Ser1617Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974465" "0" "50" "2" "170101278" "170101278" "subst" "0.000333" "01804" "LRP2_000201" "g.170101278G>T" "" "" "" "LRP2(NM_004525.3):c.3355C>A (p.H1119N, p.(His1119Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991812" "0" "10" "2" "170022516" "170022516" "subst" "0" "01804" "LRP2_000337" "g.170022516C>T" "" "" "" "LRP2(NM_004525.2):c.11684G>A (p.(Arg3895His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000991813" "0" "70" "2" "170022523" "170022523" "subst" "0" "01804" "LRP2_000338" "g.170022523T>G" "" "" "" "LRP2(NM_004525.2):c.11677A>C (p.(Asn3893His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000991814" "0" "50" "2" "170027069" "170027069" "subst" "4.06105E-6" "01804" "LRP2_000339" "g.170027069C>T" "" "" "" "LRP2(NM_004525.2):c.11372G>A (p.(Arg3791Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991815" "0" "30" "2" "170029747" "170029747" "subst" "0" "02329" "LRP2_000340" "g.170029747G>T" "" "" "" "LRP2(NM_004525.3):c.11015-13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000991816" "0" "10" "2" "170030501" "170030501" "subst" "0" "01804" "LRP2_000341" "g.170030501T>C" "" "" "" "LRP2(NM_004525.2):c.10942A>G (p.(Ile3648Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000991817" "0" "50" "2" "170042023" "170042023" "subst" "0" "01804" "LRP2_000342" "g.170042023A>C" "" "" "" "LRP2(NM_004525.2):c.9835T>G (p.(Trp3279Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991818" "0" "50" "2" "170044552" "170044552" "subst" "2.03135E-5" "01804" "LRP2_000343" "g.170044552G>A" "" "" "" "LRP2(NM_004525.2):c.9256C>T (p.(Arg3086Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991819" "0" "50" "2" "170060531" "170060531" "subst" "0" "01804" "LRP2_000344" "g.170060531C>T" "" "" "" "LRP2(NM_004525.2):c.7966G>A (p.(Glu2656Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991820" "0" "50" "2" "170062591" "170062591" "subst" "9.76221E-5" "01804" "LRP2_000345" "g.170062591G>A" "" "" "" "LRP2(NM_004525.2):c.7498C>T (p.(Arg2500Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991821" "0" "50" "2" "170063502" "170063502" "subst" "2.43837E-5" "01804" "LRP2_000346" "g.170063502C>T" "" "" "" "LRP2(NM_004525.2):c.6728G>A (p.(Arg2243Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991822" "0" "30" "2" "170063688" "170063688" "subst" "5.30491E-5" "01804" "LRP2_000347" "g.170063688C>T" "" "" "" "LRP2(NM_004525.2):c.6542G>A (p.(Arg2181His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000991823" "0" "30" "2" "170081888" "170081888" "subst" "0" "01804" "LRP2_000348" "g.170081888T>C" "" "" "" "LRP2(NM_004525.2):c.5470A>G (p.(Met1824Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000991824" "0" "50" "2" "170088305" "170088305" "subst" "4.06577E-6" "01804" "LRP2_000278" "g.170088305A>C" "" "" "" "LRP2(NM_004525.2):c.5146T>G (p.(Ser1716Ala)), LRP2(NM_004525.3):c.5146T>G (p.S1716A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991825" "0" "50" "2" "170112639" "170112639" "subst" "4.06918E-6" "01804" "LRP2_000349" "g.170112639G>T" "" "" "" "LRP2(NM_004525.2):c.2747C>A (p.(Pro916Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991826" "0" "50" "2" "170113655" "170113655" "subst" "2.84968E-5" "01804" "LRP2_000350" "g.170113655T>C" "" "" "" "LRP2(NM_004525.2):c.2618A>G (p.(Asn873Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991827" "0" "50" "2" "170129449" "170129449" "subst" "2.44194E-5" "01804" "LRP2_000351" "g.170129449G>A" "" "" "" "LRP2(NM_004525.2):c.2104C>T (p.(Arg702Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991828" "0" "50" "2" "170129539" "170129539" "subst" "0" "01804" "LRP2_000352" "g.170129539G>T" "" "" "" "LRP2(NM_004525.2):c.2014C>A (p.(Gln672Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001007543" "0" "70" "2" "170063259" "170063259" "subst" "2.84379E-5" "00006" "LRP2_000353" "g.170063259C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs747507071" "0" "" "" "g.169206749C>T" "" "VUS" ""
"0001007547" "0" "70" "2" "170068628" "170068628" "subst" "0.000296758" "00006" "LRP2_000354" "g.170068628C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs142266106" "0" "" "" "g.169212118C>T" "" "VUS" ""
"0001013412" "0" "10" "2" "169985338" "169985338" "subst" "0.00718728" "02329" "LRP2_000009" "g.169985338C>T" "" "" "" "LRP2(NM_004525.2):c.13803G>A (p.(Met4601Ile)), LRP2(NM_004525.3):c.13803G>A (p.M4601I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001013413" "0" "30" "2" "170042208" "170042208" "subst" "0.000906792" "02329" "LRP2_000039" "g.170042208T>C" "" "" "" "LRP2(NM_004525.3):c.9650A>G (p.Y3217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001013414" "0" "10" "2" "170050410" "170050410" "subst" "0.00530087" "02329" "LRP2_000046" "g.170050410G>A" "" "" "" "LRP2(NM_004525.2):c.8699-8C>T (p.(=)), LRP2(NM_004525.3):c.8699-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001024259" "0" "30" "2" "170022537" "170022537" "subst" "0.000796321" "02329" "LRP2_000004" "g.170022537C>T" "" "" "" "LRP2(NM_004525.3):c.11663G>A (p.R3888H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001024260" "0" "30" "2" "170034551" "170034551" "subst" "0.000564617" "02329" "LRP2_000355" "g.170034551A>C" "" "" "" "LRP2(NM_004525.3):c.10170-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001024261" "0" "30" "2" "170068564" "170068564" "subst" "0.000886813" "02329" "LRP2_000187" "g.170068564A>G" "" "" "" "LRP2(NM_004525.3):c.6194T>C (p.I2065T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032502" "0" "70" "2" "170025187" "170025187" "subst" "0" "01804" "LRP2_000356" "g.170025187C>T" "" "" "" "LRP2(NM_004525.3):c.11498-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001032503" "0" "50" "2" "170030533" "170030533" "subst" "0.00014219" "01804" "LRP2_000030" "g.170030533G>A" "" "" "" "LRP2(NM_004525.3):c.10910C>T (p.(Pro3637Leu), p.P3637L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032504" "0" "50" "2" "170031819" "170031819" "subst" "3.25074E-5" "01804" "LRP2_000357" "g.170031819C>T" "" "" "" "LRP2(NM_004525.3):c.10652G>A (p.(Arg3551His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032505" "0" "30" "2" "170033079" "170033079" "subst" "7.31214E-5" "01804" "LRP2_000358" "g.170033079G>A" "" "" "" "LRP2(NM_004525.3):c.10413C>T (p.(Thr3471=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032506" "0" "50" "2" "170038019" "170038019" "subst" "4.06151E-6" "01804" "LRP2_000359" "g.170038019T>C" "" "" "" "LRP2(NM_004525.3):c.10108A>G (p.(Ile3370Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032507" "0" "50" "2" "170044501" "170044501" "subst" "0" "01804" "LRP2_000360" "g.170044501T>C" "" "" "" "LRP2(NM_004525.3):c.9307A>G (p.(Asn3103Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032508" "0" "50" "2" "170048390" "170048390" "subst" "0" "01804" "LRP2_000361" "g.170048390T>G" "" "" "" "LRP2(NM_004525.3):c.8984A>C (p.(Glu2995Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032509" "0" "50" "2" "170060696" "170060696" "subst" "9.34503E-5" "01804" "LRP2_000050" "g.170060696A>G" "" "" "" "LRP2(NM_004525.3):c.7801T>C (p.Y2601H, p.(Tyr2601His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032510" "0" "30" "2" "170060788" "170060788" "subst" "0" "01804" "LRP2_000362" "g.170060788T>C" "" "" "" "LRP2(NM_004525.3):c.7716-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032511" "0" "30" "2" "170062948" "170062948" "subst" "1.21876E-5" "01804" "LRP2_000363" "g.170062948T>C" "" "" "" "LRP2(NM_004525.3):c.7282A>G (p.(Ser2428Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032512" "0" "50" "2" "170063508" "170063508" "subst" "0" "01804" "LRP2_000364" "g.170063508A>G" "" "" "" "LRP2(NM_004525.3):c.6722T>C (p.(Val2241Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032513" "0" "50" "2" "170063743" "170063743" "subst" "0" "01804" "LRP2_000365" "g.170063743T>C" "" "" "" "LRP2(NM_004525.3):c.6487A>G (p.(Asn2163Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032514" "0" "30" "2" "170063757" "170063757" "subst" "0.000486013" "02326" "LRP2_000058" "g.170063757T>G" "" "" "" "LRP2(NM_004525.2):c.6473A>C (p.(Asn2158Thr)), LRP2(NM_004525.3):c.6473A>C (p.N2158T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032515" "0" "30" "2" "170070158" "170070158" "subst" "4.51868E-5" "01804" "LRP2_000366" "g.170070158A>G" "" "" "" "LRP2(NM_004525.3):c.6040+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032516" "0" "50" "2" "170113634" "170113634" "subst" "4.88655E-5" "01804" "LRP2_000367" "g.170113634G>A" "" "" "" "LRP2(NM_004525.3):c.2639C>T (p.(Ala880Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032517" "0" "50" "2" "170134318" "170134318" "subst" "1.21893E-5" "01804" "LRP2_000368" "g.170134318C>T" "" "" "" "LRP2(NM_004525.3):c.1709G>A (p.(Arg570His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032518" "0" "50" "2" "170135978" "170135978" "subst" "4.88536E-5" "01804" "LRP2_000369" "g.170135978C>T" "" "" "" "LRP2(NM_004525.3):c.1469G>A (p.(Arg490His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001045721" "0" "30" "2" "170103295" "170103295" "subst" "0.00125885" "02326" "LRP2_000085" "g.170103295C>T" "" "" "" "LRP2(NM_004525.2):c.3110G>A (p.(Arg1037Lys)), LRP2(NM_004525.3):c.3110G>A (p.R1037K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes LRP2
## Count = 466
"{{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}}"
"0000079311" "00023962" "00" "11663" "0" "11663" "0" "c.11663G>A" "r.(?)" "p.(Arg3888His)" ""
"0000079366" "00023962" "00" "6160" "0" "6160" "0" "c.6160G>A" "r.(?)" "p.(Asp2054Asn)" ""
"0000079647" "00023962" "00" "5209" "0" "5209" "0" "c.5209C>T" "r.(?)" "p.(Leu1737Phe)" ""
"0000079656" "00023962" "00" "2933" "0" "2933" "0" "c.2933C>T" "r.(?)" "p.(Thr978Met)" ""
"0000221909" "00023962" "70" "242" "0" "242" "0" "c.242T>A" "r.(?)" "p.(Ile81Asn)" "3"
"0000221910" "00023962" "70" "6727" "0" "6727" "0" "c.6727C>T" "r.(?)" "p.(Arg2243*)" "39"
"0000221974" "00023962" "70" "7624" "0" "7624" "0" "c.7624C>T" "r.(?)" "p.(Arg2542Cys)" "41"
"0000248224" "00023962" "10" "11996" "0" "11996" "0" "c.11996T>G" "r.(?)" "p.(Val3999Gly)" ""
"0000248499" "00023962" "10" "4875" "0" "4875" "0" "c.4875T>C" "r.(?)" "p.(Cys1625=)" ""
"0000248983" "00023962" "10" "3550" "18" "3550" "18" "c.3550+18T>G" "r.(=)" "p.(=)" ""
"0000249424" "00023962" "30" "6858" "0" "6858" "0" "c.6858T>A" "r.(?)" "p.(Phe2286Leu)" ""
"0000249426" "00023962" "30" "1346" "0" "1346" "0" "c.1346T>A" "r.(?)" "p.(Phe449Tyr)" ""
"0000249474" "00023962" "30" "7284" "0" "7284" "0" "c.7284T>G" "r.(?)" "p.(Ser2428Arg)" ""
"0000249486" "00023962" "30" "7801" "0" "7801" "0" "c.7801T>C" "r.(?)" "p.(Tyr2601His)" ""
"0000250927" "00023962" "10" "11996" "0" "11996" "0" "c.11996T>G" "r.(?)" "p.(Val3999Gly)" ""
"0000254323" "00023962" "30" "3753" "0" "3753" "0" "c.3753T>C" "r.(?)" "p.(Asp1251=)" ""
"0000255136" "00023962" "30" "13685" "0" "13685" "0" "c.13685T>C" "r.(?)" "p.(Val4562Ala)" ""
"0000255193" "00023962" "30" "12296" "-7" "12296" "-7" "c.12296-7T>A" "r.(=)" "p.(=)" ""
"0000282287" "00023962" "10" "10503" "0" "10503" "0" "c.10503G>A" "r.(?)" "p.(Gln3501=)" ""
"0000282288" "00023962" "50" "10910" "0" "10910" "0" "c.10910C>T" "r.(?)" "p.(Pro3637Leu)" ""
"0000282289" "00023962" "30" "10937" "0" "10937" "0" "c.10937G>A" "r.(?)" "p.(Arg3646His)" ""
"0000282290" "00023962" "30" "11264" "-14" "11264" "-14" "c.11264-14C>G" "r.(=)" "p.(=)" ""
"0000282291" "00023962" "30" "11460" "0" "11460" "0" "c.11460C>T" "r.(?)" "p.(Ser3820=)" ""
"0000282292" "00023962" "50" "11605" "0" "11605" "0" "c.11605G>A" "r.(?)" "p.(Asp3869Asn)" ""
"0000282293" "00023962" "10" "12280" "0" "12280" "0" "c.12280A>G" "r.(?)" "p.(Lys4094Glu)" ""
"0000282294" "00023962" "10" "12628" "0" "12628" "0" "c.12628A>C" "r.(?)" "p.(Ile4210Leu)" ""
"0000282295" "00023962" "10" "13113" "0" "13113" "0" "c.13113C>T" "r.(?)" "p.(Ile4371=)" ""
"0000282296" "00023962" "50" "13267" "0" "13267" "0" "c.13267A>G" "r.(?)" "p.(Thr4423Ala)" ""
"0000282297" "00023962" "10" "2025" "0" "2025" "0" "c.2025C>T" "r.(?)" "p.(Val675=)" ""
"0000282298" "00023962" "10" "2320" "32" "2320" "33" "c.2320+32_2320+33del" "r.(=)" "p.(=)" ""
"0000282299" "00023962" "10" "248" "0" "248" "0" "c.248A>G" "r.(?)" "p.(Asn83Ser)" ""
"0000282300" "00023962" "10" "2933" "0" "2933" "0" "c.2933C>T" "r.(?)" "p.(Thr978Met)" ""
"0000282301" "00023962" "10" "3054" "0" "3054" "0" "c.3054C>A" "r.(?)" "p.(Thr1018=)" ""
"0000282302" "00023962" "10" "3069" "0" "3069" "0" "c.3069A>G" "r.(?)" "p.(Thr1023=)" ""
"0000282303" "00023962" "50" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Asn117Ser)" ""
"0000282304" "00023962" "10" "3550" "14" "3550" "14" "c.3550+14C>T" "r.(=)" "p.(=)" ""
"0000282305" "00023962" "10" "3667" "20" "3667" "20" "c.3667+20A>C" "r.(=)" "p.(=)" ""
"0000282306" "00023962" "50" "3893" "0" "3893" "0" "c.3893A>T" "r.(?)" "p.(Asp1298Val)" ""
"0000282307" "00023962" "30" "4391" "0" "4391" "0" "c.4391A>G" "r.(?)" "p.(Asn1464Ser)" ""
"0000282308" "00023962" "30" "4928" "0" "4928" "0" "c.4928G>A" "r.(?)" "p.(Arg1643Gln)" ""
"0000282309" "00023962" "10" "63" "0" "63" "0" "c.63G>C" "r.(?)" "p.(Ala21=)" ""
"0000282310" "00023962" "30" "7747" "0" "7747" "0" "c.7747G>A" "r.(?)" "p.(Val2583Met)" ""
"0000282311" "00023962" "10" "79" "15" "79" "15" "c.79+15A>G" "r.(=)" "p.(=)" ""
"0000282312" "00023962" "10" "8614" "0" "8614" "0" "c.8614G>A" "r.(?)" "p.(Ala2872Thr)" ""
"0000282313" "00023962" "30" "8699" "-8" "8699" "-8" "c.8699-8C>T" "r.(=)" "p.(=)" ""
"0000282314" "00023962" "50" "9064" "0" "9064" "0" "c.9064A>G" "r.(?)" "p.(Ser3022Gly)" ""
"0000282315" "00023962" "30" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Ala31Val)" ""
"0000282316" "00023962" "30" "9363" "0" "9363" "0" "c.9363C>T" "r.(?)" "p.(Gly3121=)" ""
"0000282317" "00023962" "50" "9945" "0" "9945" "0" "c.9945C>A" "r.(?)" "p.(Asn3315Lys)" ""
"0000286042" "00023962" "30" "428" "-9" "428" "-8" "c.428-9_428-8del" "r.(=)" "p.(=)" ""
"0000291120" "00023962" "10" "10403" "0" "10403" "0" "c.10403C>T" "r.(?)" "p.(Pro3468Leu)" ""
"0000291121" "00023962" "50" "10906" "0" "10906" "0" "c.10906C>T" "r.(?)" "p.(Arg3636Trp)" ""
"0000291122" "00023962" "50" "11092" "0" "11092" "0" "c.11092G>A" "r.(?)" "p.(Val3698Met)" ""
"0000291123" "00023962" "50" "11663" "0" "11663" "0" "c.11663G>A" "r.(?)" "p.(Arg3888His)" ""
"0000291124" "00023962" "30" "12379" "0" "12379" "0" "c.12379C>A" "r.(?)" "p.(Arg4127Ser)" ""
"0000291125" "00023962" "30" "149" "0" "149" "0" "c.149C>G" "r.(?)" "p.(Thr50Ser)" ""
"0000291126" "00023962" "10" "2456" "0" "2456" "0" "c.2456G>A" "r.(?)" "p.(Arg819His)" ""
"0000291127" "00023962" "30" "2511" "0" "2511" "0" "c.2511C>T" "r.(?)" "p.(Ala837=)" ""
"0000291128" "00023962" "30" "2631" "0" "2631" "0" "c.2631C>T" "r.(?)" "p.(Ile877=)" ""
"0000291129" "00023962" "50" "2688" "0" "2688" "0" "c.2688C>G" "r.(?)" "p.(His896Gln)" ""
"0000291130" "00023962" "30" "3110" "0" "3110" "0" "c.3110G>A" "r.(?)" "p.(Arg1037Lys)" ""
"0000291131" "00023962" "30" "3128" "0" "3128" "0" "c.3128A>G" "r.(?)" "p.(Tyr1043Cys)" ""
"0000291132" "00023962" "30" "3551" "-9" "3551" "-9" "c.3551-9C>A" "r.(=)" "p.(=)" ""
"0000291133" "00023962" "30" "3659" "0" "3659" "0" "c.3659C>T" "r.(?)" "p.(Ala1220Val)" ""
"0000291134" "00023962" "30" "3708" "0" "3708" "0" "c.3708G>A" "r.(?)" "p.(Gln1236=)" ""
"0000291135" "00023962" "30" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.(Arg131Gly)" ""
"0000291136" "00023962" "50" "4351" "0" "4351" "0" "c.4351G>T" "r.(?)" "p.(Val1451Phe)" ""
"0000291137" "00023962" "30" "5064" "0" "5064" "0" "c.5064G>A" "r.(?)" "p.(Gly1688=)" ""
"0000291138" "00023962" "30" "5095" "0" "5095" "0" "c.5095A>G" "r.(?)" "p.(Asn1699Asp)" ""
"0000291139" "00023962" "30" "6048" "0" "6048" "0" "c.6048C>T" "r.(?)" "p.(Ala2016=)" ""
"0000291140" "00023962" "30" "6850" "0" "6850" "0" "c.6850A>G" "r.(?)" "p.(Thr2284Ala)" ""
"0000291141" "00023962" "50" "6931" "0" "6931" "0" "c.6931G>A" "r.(?)" "p.(Glu2311Lys)" ""
"0000291142" "00023962" "10" "7406" "0" "7406" "0" "c.7406A>G" "r.(?)" "p.(Asp2469Gly)" ""
"0000291143" "00023962" "30" "8778" "0" "8778" "0" "c.8778C>T" "r.(?)" "p.(Asp2926=)" ""
"0000291144" "00023962" "30" "8901" "0" "8901" "0" "c.8901C>G" "r.(?)" "p.(Pro2967=)" ""
"0000291145" "00023962" "10" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Ala31Val)" ""
"0000291146" "00023962" "30" "9650" "0" "9650" "0" "c.9650A>G" "r.(?)" "p.(Tyr3217Cys)" ""
"0000291147" "00023962" "30" "9811" "0" "9811" "0" "c.9811G>A" "r.(?)" "p.(Ala3271Thr)" ""
"0000327452" "00023962" "30" "13803" "0" "13803" "0" "c.13803G>A" "r.(?)" "p.(Met4601Ile)" ""
"0000327453" "00023962" "30" "13250" "0" "13250" "0" "c.13250G>A" "r.(?)" "p.(Gly4417Asp)" ""
"0000327454" "00023962" "50" "12376" "0" "12376" "0" "c.12376G>A" "r.(?)" "p.(Gly4126Ser)" ""
"0000327457" "00023962" "30" "11092" "0" "11092" "0" "c.11092G>A" "r.(?)" "p.(Val3698Met)" ""
"0000327458" "00023962" "50" "10946" "0" "10946" "0" "c.10946C>T" "r.(?)" "p.(Pro3649Leu)" ""
"0000327459" "00023962" "50" "10915" "0" "10915" "0" "c.10915C>T" "r.(?)" "p.(Gln3639Ter)" ""
"0000327460" "00023962" "50" "10202" "0" "10202" "0" "c.10202C>G" "r.(?)" "p.(Thr3401Arg)" ""
"0000327461" "00023962" "50" "10165" "0" "10165" "0" "c.10165A>G" "r.(?)" "p.(Ile3389Val)" ""
"0000327462" "00023962" "50" "9681" "0" "9681" "0" "c.9681C>A" "r.(?)" "p.(Asp3227Glu)" ""
"0000327464" "00023962" "50" "8702" "0" "8702" "0" "c.8702A>G" "r.(?)" "p.(His2901Arg)" ""
"0000327465" "00023962" "30" "8699" "-8" "8699" "-8" "c.8699-8C>T" "r.(=)" "p.(=)" ""
"0000327468" "00023962" "50" "7586" "0" "7586" "0" "c.7586A>G" "r.(?)" "p.(His2529Arg)" ""
"0000327469" "00023962" "50" "6473" "0" "6473" "0" "c.6473A>C" "r.(?)" "p.(Asn2158Thr)" ""
"0000327470" "00023962" "50" "6256" "0" "6256" "0" "c.6256A>T" "r.(?)" "p.(Thr2086Ser)" ""
"0000327473" "00023962" "50" "6106" "0" "6106" "0" "c.6106G>A" "r.(?)" "p.(Val2036Ile)" ""
"0000327475" "00023962" "50" "5362" "0" "5362" "0" "c.5362G>T" "r.(?)" "p.(Ala1788Ser)" ""
"0000327476" "00023962" "50" "5293" "0" "5293" "0" "c.5293G>A" "r.(?)" "p.(Val1765Met)" ""
"0000327478" "00023962" "50" "5113" "0" "5113" "0" "c.5113G>C" "r.(?)" "p.(Ala1705Pro)" ""
"0000327480" "00023962" "50" "4711" "0" "4711" "0" "c.4711T>G" "r.(?)" "p.(Ser1571Ala)" ""
"0000327481" "00023962" "30" "3659" "0" "3659" "0" "c.3659C>T" "r.(?)" "p.(Ala1220Val)" ""
"0000327482" "00023962" "30" "3452" "0" "3452" "0" "c.3452C>T" "r.(?)" "p.(Pro1151Leu)" ""
"0000327485" "00023962" "50" "2688" "0" "2688" "0" "c.2688C>G" "r.(?)" "p.(His896Gln)" ""
"0000327486" "00023962" "50" "2603" "0" "2603" "0" "c.2603C>G" "r.(?)" "p.(Thr868Ser)" ""
"0000327487" "00023962" "30" "2511" "0" "2511" "0" "c.2511C>T" "r.(?)" "p.(Ala837=)" ""
"0000327488" "00023962" "50" "2210" "0" "2210" "0" "c.2210C>T" "r.(?)" "p.(Ser737Leu)" ""
"0000327489" "00023962" "50" "2024" "0" "2024" "0" "c.2024T>C" "r.(?)" "p.(Val675Ala)" ""
"0000327493" "00023962" "30" "923" "-6" "923" "-6" "c.923-6G>A" "r.(=)" "p.(=)" ""
"0000327498" "00023962" "50" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" ""
"0000327499" "00023962" "30" "149" "0" "149" "0" "c.149C>G" "r.(?)" "p.(Thr50Ser)" ""
"0000327501" "00023962" "50" "62" "0" "62" "0" "c.62C>A" "r.(?)" "p.(Ala21Glu)" ""
"0000337330" "00023962" "10" "4294" "19" "4294" "19" "c.4294+19C>T" "r.(=)" "p.(=)" ""
"0000337331" "00023962" "10" "3667" "20" "3667" "20" "c.3667+20A>C" "r.(=)" "p.(=)" ""
"0000337332" "00023962" "10" "3550" "18" "3550" "18" "c.3550+18T>G" "r.(=)" "p.(=)" ""
"0000337333" "00023962" "10" "3550" "14" "3550" "14" "c.3550+14C>T" "r.(=)" "p.(=)" ""
"0000337334" "00023962" "10" "769" "18" "769" "18" "c.769+18T>C" "r.(=)" "p.(=)" ""
"0000337335" "00023962" "10" "79" "15" "79" "15" "c.79+15A>G" "r.(=)" "p.(=)" ""
"0000339527" "00023962" "10" "13113" "0" "13113" "0" "c.13113C>T" "r.(?)" "p.(Ile4371=)" ""
"0000339528" "00023962" "10" "11601" "0" "11601" "0" "c.11601T>C" "r.(?)" "p.(Cys3867=)" ""
"0000339529" "00023962" "30" "8169" "0" "8169" "0" "c.8169C>T" "r.(?)" "p.(Asn2723=)" ""
"0000339530" "00023962" "10" "7626" "0" "7626" "0" "c.7626C>G" "r.(?)" "p.(Arg2542=)" ""
"0000339531" "00023962" "30" "5379" "0" "5379" "0" "c.5379T>C" "r.(?)" "p.(Tyr1793=)" ""
"0000339532" "00023962" "10" "5085" "0" "5085" "0" "c.5085G>A" "r.(?)" "p.(Ser1695=)" ""
"0000339533" "00023962" "10" "402" "0" "402" "0" "c.402C>A" "r.(?)" "p.(Pro134=)" ""
"0000340620" "00023962" "10" "3660" "0" "3660" "0" "c.3660A>G" "r.(?)" "p.(Ala1220=)" ""
"0000340633" "00023962" "10" "63" "0" "63" "0" "c.63G>C" "r.(?)" "p.(Ala21=)" ""
"0000340670" "00023962" "10" "4236" "0" "4236" "0" "c.4236G>C" "r.(?)" "p.(Arg1412=)" ""
"0000340675" "00023962" "10" "5859" "0" "5859" "0" "c.5859A>G" "r.(?)" "p.(Arg1953=)" ""
"0000340719" "00023962" "10" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(Asp213=)" ""
"0000340733" "00023962" "10" "2376" "0" "2376" "0" "c.2376T>C" "r.(?)" "p.(Asp792=)" ""
"0000340739" "00023962" "10" "4875" "0" "4875" "0" "c.4875T>C" "r.(?)" "p.(Cys1625=)" ""
"0000340748" "00023962" "10" "10503" "0" "10503" "0" "c.10503G>A" "r.(?)" "p.(Gln3501=)" ""
"0000340843" "00023962" "10" "6967" "0" "6967" "0" "c.6967C>T" "r.(?)" "p.(Leu2323=)" ""
"0000340950" "00023962" "10" "5100" "0" "5100" "0" "c.5100C>T" "r.(?)" "p.(Ser1700=)" ""
"0000340985" "00023962" "10" "3054" "0" "3054" "0" "c.3054C>A" "r.(?)" "p.(Thr1018=)" ""
"0000340986" "00023962" "10" "3069" "0" "3069" "0" "c.3069A>G" "r.(?)" "p.(Thr1023=)" ""
"0000341026" "00023962" "10" "2460" "0" "2460" "0" "c.2460A>G" "r.(?)" "p.(Thr820=)" ""
"0000341063" "00023962" "10" "2025" "0" "2025" "0" "c.2025C>T" "r.(?)" "p.(Val675=)" ""
"0000341340" "00023962" "10" "8614" "0" "8614" "0" "c.8614G>A" "r.(?)" "p.(Ala2872Thr)" ""
"0000342759" "00023962" "50" "11177" "0" "11177" "0" "c.11177G>A" "r.(?)" "p.(Arg3726His)" ""
"0000342875" "00023962" "50" "12658" "0" "12658" "0" "c.12658C>T" "r.(?)" "p.(Arg4220Cys)" ""
"0000343677" "00023962" "10" "7894" "0" "7894" "0" "c.7894A>G" "r.(?)" "p.(Asn2632Asp)" ""
"0000343709" "00023962" "30" "9613" "0" "9613" "0" "c.9613A>G" "r.(?)" "p.(Asn3205Asp)" ""
"0000343832" "00023962" "10" "248" "0" "248" "0" "c.248A>G" "r.(?)" "p.(Asn83Ser)" ""
"0000344371" "00023962" "50" "10595" "0" "10595" "0" "c.10595G>A" "r.(?)" "p.(Cys3532Tyr)" ""
"0000344792" "00023962" "90" "10915" "0" "10915" "0" "c.10915C>T" "r.(?)" "p.(Gln3639Ter)" ""
"0000345917" "00023962" "10" "775" "0" "775" "0" "c.775G>C" "r.(?)" "p.(Gly259Arg)" ""
"0000346214" "00023962" "10" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Gly669Asp)" ""
"0000346693" "00023962" "50" "10165" "0" "10165" "0" "c.10165A>G" "r.(?)" "p.(Ile3389Val)" ""
"0000346726" "00023962" "10" "12628" "0" "12628" "0" "c.12628A>C" "r.(?)" "p.(Ile4210Leu)" ""
"0000347559" "00023962" "10" "12280" "0" "12280" "0" "c.12280A>G" "r.(?)" "p.(Lys4094Glu)" ""
"0000348144" "00023962" "10" "3452" "0" "3452" "0" "c.3452C>T" "r.(?)" "p.(Pro1151Leu)" ""
"0000350736" "00023962" "90" "2770" "1" "2770" "1" "c.2770+1G>A" "r.spl?" "p.?" ""
"0000350970" "00023962" "70" "5827" "-9" "5827" "-9" "c.5827-9A>G" "r.(=)" "p.(=)" ""
"0000350971" "00023962" "10" "4046" "-6" "4046" "-6" "c.4046-6T>C" "r.(=)" "p.(=)" ""
"0000407996" "00023962" "00" "12437" "0" "12437" "0" "c.12437del" "r.(?)" "p.(Gly4146Glufs*2)" ""
"0000510108" "00023962" "30" "13883" "0" "13883" "0" "c.13883G>C" "r.(?)" "p.(Arg4628Thr)" ""
"0000510109" "00023962" "50" "13850" "0" "13850" "0" "c.13850C>T" "r.(?)" "p.(Pro4617Leu)" ""
"0000510110" "00023962" "30" "13685" "0" "13685" "0" "c.13685T>C" "r.(?)" "p.(Val4562Ala)" ""
"0000510111" "00023962" "10" "13519" "-20" "13519" "-19" "c.13519-20_13519-19dup" "r.(=)" "p.(=)" ""
"0000510112" "00023962" "30" "13363" "0" "13363" "0" "c.13363T>C" "r.(?)" "p.(Leu4455=)" ""
"0000510113" "00023962" "10" "13250" "0" "13250" "0" "c.13250G>A" "r.(?)" "p.(Gly4417Asp)" ""
"0000510114" "00023962" "50" "13190" "0" "13190" "0" "c.13190C>T" "r.(?)" "p.(Pro4397Leu)" ""
"0000510115" "00023962" "30" "13097" "0" "13097" "0" "c.13097A>G" "r.(?)" "p.(Glu4366Gly)" ""
"0000510116" "00023962" "30" "13086" "0" "13086" "0" "c.13086G>T" "r.(?)" "p.(Gly4362=)" ""
"0000510117" "00023962" "50" "12725" "0" "12725" "0" "c.12725A>G" "r.(?)" "p.(Asp4242Gly)" ""
"0000510118" "00023962" "50" "12493" "0" "12493" "0" "c.12493C>T" "r.(?)" "p.(Arg4165Cys)" ""
"0000510119" "00023962" "30" "12380" "0" "12380" "0" "c.12380G>A" "r.(?)" "p.(Arg4127His)" ""
"0000510120" "00023962" "30" "12380" "0" "12380" "0" "c.12380G>A" "r.(?)" "p.(Arg4127His)" ""
"0000510121" "00023962" "30" "12380" "0" "12380" "0" "c.12380G>A" "r.(?)" "p.(Arg4127His)" ""
"0000510124" "00023962" "30" "12296" "-4" "12296" "-4" "c.12296-4G>A" "r.spl?" "p.?" ""
"0000510125" "00023962" "30" "12296" "-7" "12296" "-7" "c.12296-7T>A" "r.(=)" "p.(=)" ""
"0000510126" "00023962" "30" "12295" "8" "12295" "8" "c.12295+8T>C" "r.(=)" "p.(=)" ""
"0000510128" "00023962" "30" "12125" "0" "12125" "0" "c.12125G>A" "r.(?)" "p.(Arg4042His)" ""
"0000510130" "00023962" "30" "11589" "0" "11589" "0" "c.11589C>T" "r.(?)" "p.(Gly3863=)" ""
"0000510131" "00023962" "30" "11504" "0" "11504" "0" "c.11504G>A" "r.(?)" "p.(Arg3835His)" ""
"0000510132" "00023962" "10" "11498" "-13" "11498" "-13" "c.11498-13del" "r.(=)" "p.(=)" ""
"0000510133" "00023962" "50" "11131" "0" "11131" "0" "c.11131G>A" "r.(?)" "p.(Glu3711Lys)" ""
"0000510135" "00023962" "50" "10696" "0" "10696" "0" "c.10696A>G" "r.(?)" "p.(Thr3566Ala)" ""
"0000510136" "00023962" "30" "10403" "0" "10403" "0" "c.10403C>T" "r.(?)" "p.(Pro3468Leu)" ""
"0000510137" "00023962" "50" "10210" "0" "10210" "0" "c.10210G>A" "r.(?)" "p.(Asp3404Asn)" ""
"0000510138" "00023962" "50" "10165" "0" "10165" "0" "c.10165A>G" "r.(?)" "p.(Ile3389Val)" ""
"0000510139" "00023962" "30" "9914" "0" "9914" "0" "c.9914G>A" "r.(?)" "p.(Arg3305His)" ""
"0000510142" "00023962" "50" "9793" "0" "9793" "0" "c.9793A>T" "r.(?)" "p.(Ile3265Leu)" ""
"0000510143" "00023962" "30" "9613" "0" "9613" "0" "c.9613A>G" "r.(?)" "p.(Asn3205Asp)" ""
"0000510144" "00023962" "30" "9613" "0" "9613" "0" "c.9613A>G" "r.(?)" "p.(Asn3205Asp)" ""
"0000510145" "00023962" "10" "9413" "0" "9413" "0" "c.9413G>A" "r.(?)" "p.(Arg3138His)" ""
"0000510146" "00023962" "30" "9363" "0" "9363" "0" "c.9363C>T" "r.(?)" "p.(Gly3121=)" ""
"0000510147" "00023962" "30" "9342" "0" "9342" "0" "c.9342C>T" "r.(?)" "p.(Cys3114=)" ""
"0000510148" "00023962" "30" "9270" "0" "9270" "0" "c.9270G>T" "r.(?)" "p.(Met3090Ile)" ""
"0000510149" "00023962" "50" "9070" "0" "9070" "0" "c.9070G>A" "r.(?)" "p.(Glu3024Lys)" ""
"0000510151" "00023962" "50" "8470" "0" "8470" "0" "c.8470T>C" "r.(?)" "p.(Ser2824Pro)" ""
"0000510154" "00023962" "30" "8211" "0" "8211" "0" "c.8211A>G" "r.(?)" "p.(Ala2737=)" ""
"0000510155" "00023962" "30" "8169" "0" "8169" "0" "c.8169C>T" "r.(?)" "p.(Asn2723=)" ""
"0000510156" "00023962" "30" "8149" "0" "8149" "0" "c.8149T>C" "r.(?)" "p.(Trp2717Arg)" ""
"0000510158" "00023962" "30" "7866" "0" "7866" "0" "c.7866C>T" "r.(?)" "p.(Asp2622=)" ""
"0000510159" "00023962" "50" "7801" "0" "7801" "0" "c.7801T>C" "r.(?)" "p.(Tyr2601His)" ""
"0000510161" "00023962" "50" "7432" "0" "7432" "0" "c.7432A>G" "r.(?)" "p.(Arg2478Gly)" ""
"0000510162" "00023962" "30" "7289" "0" "7289" "0" "c.7289G>C" "r.(?)" "p.(Ser2430Thr)" ""
"0000510164" "00023962" "30" "7253" "0" "7253" "0" "c.7253A>G" "r.(?)" "p.(Glu2418Gly)" ""
"0000510166" "00023962" "30" "7006" "0" "7006" "0" "c.7006C>T" "r.(?)" "p.(Arg2336Trp)" ""
"0000510167" "00023962" "30" "6850" "0" "6850" "0" "c.6850A>G" "r.(?)" "p.(Thr2284Ala)" ""
"0000510168" "00023962" "30" "6850" "0" "6850" "0" "c.6850A>G" "r.(?)" "p.(Thr2284Ala)" ""
"0000510169" "00023962" "30" "6561" "0" "6561" "0" "c.6561C>T" "r.(?)" "p.(Val2187=)" ""
"0000510170" "00023962" "50" "6545" "0" "6545" "0" "c.6545G>A" "r.(?)" "p.(Arg2182His)" ""
"0000510171" "00023962" "30" "6281" "-7" "6281" "-7" "c.6281-7C>A" "r.(=)" "p.(=)" ""
"0000510172" "00023962" "10" "6194" "0" "6194" "0" "c.6194T>C" "r.(?)" "p.(Ile2065Thr)" ""
"0000510175" "00023962" "30" "5886" "0" "5886" "0" "c.5886C>T" "r.(?)" "p.(His1962=)" ""
"0000510176" "00023962" "90" "5875" "0" "5875" "0" "c.5875C>T" "r.(?)" "p.(Gln1959Ter)" ""
"0000510177" "00023962" "50" "5737" "0" "5737" "0" "c.5737C>G" "r.(?)" "p.(Leu1913Val)" ""
"0000510178" "00023962" "30" "5553" "0" "5553" "0" "c.5553C>T" "r.(?)" "p.(His1851=)" ""
"0000510179" "00023962" "30" "5553" "0" "5553" "0" "c.5553C>T" "r.(?)" "p.(His1851=)" ""
"0000510181" "00023962" "30" "5390" "0" "5390" "0" "c.5390A>G" "r.(?)" "p.(Asn1797Ser)" ""
"0000510183" "00023962" "30" "5304" "0" "5304" "0" "c.5304T>C" "r.(?)" "p.(Asn1768=)" ""
"0000510184" "00023962" "50" "5303" "0" "5303" "0" "c.5303A>G" "r.(?)" "p.(Asn1768Ser)" ""
"0000510185" "00023962" "10" "5293" "0" "5293" "0" "c.5293G>A" "r.(?)" "p.(Val1765Met)" ""
"0000510186" "00023962" "30" "4689" "0" "4689" "0" "c.4689G>A" "r.(?)" "p.(Met1563Ile)" ""
"0000510187" "00023962" "30" "4351" "0" "4351" "0" "c.4351G>T" "r.(?)" "p.(Val1451Phe)" ""
"0000510193" "00023962" "30" "3355" "0" "3355" "0" "c.3355C>A" "r.(?)" "p.(His1119Asn)" ""
"0000510194" "00023962" "30" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Asp1049Asn)" ""
"0000510195" "00023962" "30" "3110" "0" "3110" "0" "c.3110G>A" "r.(?)" "p.(Arg1037Lys)" ""
"0000510197" "00023962" "30" "2917" "0" "2917" "0" "c.2917G>A" "r.(?)" "p.(Ala973Thr)" ""
"0000510198" "00023962" "30" "2603" "0" "2603" "0" "c.2603C>G" "r.(?)" "p.(Thr868Ser)" ""
"0000510199" "00023962" "10" "2460" "0" "2460" "0" "c.2460A>G" "r.(?)" "p.(Thr820=)" ""
"0000510201" "00023962" "50" "2210" "0" "2210" "0" "c.2210C>T" "r.(?)" "p.(Ser737Leu)" ""
"0000510202" "00023962" "50" "2178" "0" "2178" "0" "c.2178G>T" "r.(?)" "p.(Leu726Phe)" ""
"0000510203" "00023962" "50" "2137" "0" "2137" "0" "c.2137T>G" "r.(?)" "p.(Phe713Val)" ""
"0000510204" "00023962" "30" "2079" "0" "2079" "0" "c.2079C>T" "r.(?)" "p.(Phe693=)" ""
"0000510206" "00023962" "50" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Gly598Ser)" ""
"0000510207" "00023962" "50" "1568" "0" "1568" "0" "c.1568A>G" "r.(?)" "p.(Tyr523Cys)" ""
"0000510208" "00023962" "30" "1180" "0" "1180" "0" "c.1180G>T" "r.(?)" "p.(Ala394Ser)" ""
"0000510209" "00023962" "30" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Gly392=)" ""
"0000510210" "00023962" "30" "1172" "-8" "1172" "-8" "c.1172-8G>A" "r.(=)" "p.(=)" ""
"0000510213" "00023962" "30" "428" "-3" "428" "-3" "c.428-3T>A" "r.spl?" "p.?" ""
"0000510214" "00023962" "50" "428" "-6" "428" "-6" "c.428-6C>A" "r.(=)" "p.(=)" ""
"0000510217" "00023962" "30" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" ""
"0000510218" "00023962" "50" "230" "0" "230" "0" "c.230A>T" "r.(?)" "p.(Glu77Val)" ""
"0000510220" "00023962" "10" "62" "0" "62" "0" "c.62C>A" "r.(?)" "p.(Ala21Glu)" ""
"0000606330" "00023962" "30" "12756" "0" "12756" "0" "c.12756C>T" "r.(?)" "p.(Asp4252=)" ""
"0000606331" "00023962" "30" "11244" "0" "11244" "0" "c.11244C>T" "r.(?)" "p.(Asn3748=)" ""
"0000606332" "00023962" "30" "10937" "0" "10937" "0" "c.10937G>A" "r.(?)" "p.(Arg3646His)" ""
"0000606333" "00023962" "30" "9845" "5" "9845" "5" "c.9845+5G>A" "r.spl?" "p.?" ""
"0000606334" "00023962" "50" "9706" "0" "9706" "0" "c.9706C>T" "r.(?)" "p.(Arg3236Ter)" ""
"0000606335" "00023962" "50" "8623" "0" "8623" "0" "c.8623C>T" "r.(?)" "p.(Arg2875Cys)" ""
"0000606336" "00023962" "30" "8517" "0" "8517" "0" "c.8517T>G" "r.(?)" "p.(Val2839=)" ""
"0000606337" "00023962" "50" "8228" "0" "8228" "0" "c.8228C>T" "r.(?)" "p.(Pro2743Leu)" ""
"0000606338" "00023962" "50" "6553" "0" "6553" "0" "c.6553C>T" "r.(?)" "p.(Leu2185Phe)" ""
"0000606339" "00023962" "30" "5155" "0" "5155" "0" "c.5155G>C" "r.(?)" "p.(Gly1719Arg)" ""
"0000606340" "00023962" "30" "4831" "0" "4831" "0" "c.4831C>T" "r.(?)" "p.(Leu1611=)" ""
"0000606341" "00023962" "50" "3931" "0" "3931" "0" "c.3931C>T" "r.(?)" "p.(Arg1311Cys)" ""
"0000606342" "00023962" "30" "3426" "0" "3426" "0" "c.3426C>G" "r.(?)" "p.(Asn1142Lys)" ""
"0000606343" "00023962" "50" "2688" "0" "2688" "0" "c.2688C>G" "r.(?)" "p.(His896Gln)" ""
"0000606344" "00023962" "50" "2602" "0" "2602" "0" "c.2602A>T" "r.(?)" "p.(Thr868Ser)" ""
"0000606345" "00023962" "30" "2342" "0" "2342" "0" "c.2342A>G" "r.(?)" "p.(Asn781Ser)" ""
"0000606346" "00023962" "30" "428" "-6" "428" "-6" "c.428-6C>A" "r.(=)" "p.(=)" ""
"0000620771" "00023962" "30" "13935" "0" "13935" "0" "c.13935C>T" "r.(?)" "p.(Thr4645=)" ""
"0000620772" "00023962" "50" "6815" "0" "6815" "0" "c.6815G>A" "r.(?)" "p.(Arg2272His)" ""
"0000620773" "00023962" "50" "1992" "0" "1992" "0" "c.1992A>G" "r.(?)" "p.(Lys664=)" ""
"0000630961" "00023962" "90" "11335" "0" "11335" "0" "c.11335G>A" "r.(?)" "p.(Asp3779Asn)" ""
"0000630962" "00023962" "90" "11335" "0" "11335" "0" "c.11335G>A" "r.(?)" "p.(Asp3779Asn)" ""
"0000650208" "00023962" "50" "13803" "0" "13803" "0" "c.13803G>A" "r.(?)" "p.(Met4601Ile)" ""
"0000650209" "00023962" "30" "13250" "0" "13250" "0" "c.13250G>A" "r.(?)" "p.(Gly4417Asp)" ""
"0000650210" "00023962" "50" "11996" "0" "11996" "0" "c.11996T>G" "r.(?)" "p.(Val3999Gly)" ""
"0000650211" "00023962" "50" "11663" "0" "11663" "0" "c.11663G>A" "r.(?)" "p.(Arg3888His)" ""
"0000650212" "00023962" "30" "7894" "0" "7894" "0" "c.7894A>G" "r.(?)" "p.(Asn2632Asp)" ""
"0000650213" "00023962" "30" "7253" "0" "7253" "0" "c.7253A>G" "r.(?)" "p.(Glu2418Gly)" ""
"0000650214" "00023962" "90" "6160" "0" "6160" "0" "c.6160G>A" "r.(?)" "p.(Asp2054Asn)" ""
"0000650215" "00023962" "30" "6035" "0" "6035" "0" "c.6035G>A" "r.(?)" "p.(Arg2012Lys)" ""
"0000650216" "00023962" "50" "5293" "0" "5293" "0" "c.5293G>A" "r.(?)" "p.(Val1765Met)" ""
"0000650217" "00023962" "50" "2987" "0" "2987" "0" "c.2987G>T" "r.(?)" "p.(Arg996Leu)" ""
"0000650218" "00023962" "30" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Gly669Asp)" ""
"0000650219" "00023962" "50" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Tyr658Cys)" ""
"0000650220" "00023962" "10" "1172" "-8" "1172" "-8" "c.1172-8G>A" "r.(=)" "p.(=)" ""
"0000654275" "00023962" "30" "13803" "0" "13803" "0" "c.13803G>A" "r.(?)" "p.(Met4601Ile)" ""
"0000654276" "00023962" "30" "12111" "0" "12111" "0" "c.12111G>A" "r.(?)" "p.(Thr4037=)" ""
"0000654277" "00023962" "30" "10937" "0" "10937" "0" "c.10937G>A" "r.(?)" "p.(Arg3646His)" ""
"0000654278" "00023962" "50" "9001" "0" "9001" "0" "c.9001G>T" "r.(?)" "p.(Gly3001Cys)" ""
"0000654279" "00023962" "90" "8095" "0" "8095" "0" "c.8095C>T" "r.(?)" "p.(Arg2699Ter)" ""
"0000654280" "00023962" "30" "3607" "0" "3607" "0" "c.3607G>A" "r.(?)" "p.(Val1203Ile)" ""
"0000654281" "00023962" "10" "428" "-9" "428" "-8" "c.428-9_428-8del" "r.(=)" "p.(=)" ""
"0000669529" "00023962" "30" "13250" "0" "13250" "0" "c.13250G>A" "r.(?)" "p.(Gly4417Asp)" ""
"0000669530" "00023962" "30" "7894" "0" "7894" "0" "c.7894A>G" "r.(?)" "p.(Asn2632Asp)" ""
"0000669531" "00023962" "30" "6035" "0" "6035" "0" "c.6035G>A" "r.(?)" "p.(Arg2012Lys)" ""
"0000669532" "00023962" "30" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Gly669Asp)" ""
"0000676103" "00023962" "10" "13519" "-22" "13519" "-19" "c.13519-22_13519-19del" "r.(=)" "p.(=)" ""
"0000676104" "00023962" "30" "12796" "0" "12796" "0" "c.12796G>A" "r.(?)" "p.(Val4266Ile)" ""
"0000676105" "00023962" "30" "12380" "0" "12380" "0" "c.12380G>A" "r.(?)" "p.(Arg4127His)" ""
"0000676106" "00023962" "50" "11335" "0" "11335" "0" "c.11335G>A" "r.(?)" "p.(Asp3779Asn)" ""
"0000676107" "00023962" "50" "10547" "0" "10547" "0" "c.10547A>G" "r.(?)" "p.(Gln3516Arg)" ""
"0000676108" "00023962" "30" "8132" "0" "8132" "0" "c.8132G>A" "r.(?)" "p.(Arg2711His)" ""
"0000676109" "00023962" "50" "6269" "0" "6269" "0" "c.6269T>C" "r.(?)" "p.(Val2090Ala)" ""
"0000676110" "00023962" "30" "5209" "0" "5209" "0" "c.5209C>T" "r.(?)" "p.(Leu1737Phe)" ""
"0000676111" "00023962" "50" "3182" "0" "3182" "0" "c.3182G>C" "r.(?)" "p.(Gly1061Ala)" ""
"0000688387" "00023962" "30" "11478" "0" "11478" "0" "c.11478G>A" "r.(?)" "p.(Ala3826=)" ""
"0000688388" "00023962" "30" "11322" "0" "11322" "0" "c.11322G>A" "r.(?)" "p.(Ser3774=)" ""
"0000688389" "00023962" "50" "8587" "0" "8587" "0" "c.8587A>C" "r.(?)" "p.(Thr2863Pro)" ""
"0000688390" "00023962" "50" "6858" "0" "6858" "0" "c.6858T>A" "r.(?)" "p.(Phe2286Leu)" ""
"0000688391" "00023962" "50" "5984" "0" "5984" "0" "c.5984T>C" "r.(?)" "p.(Ile1995Thr)" ""
"0000688392" "00023962" "30" "5155" "0" "5155" "0" "c.5155G>C" "r.(?)" "p.(Gly1719Arg)" ""
"0000688393" "00023962" "30" "4370" "0" "4370" "0" "c.4370A>G" "r.(?)" "p.(Asn1457Ser)" ""
"0000688394" "00023962" "30" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(Cys1296=)" ""
"0000688395" "00023962" "30" "2602" "0" "2602" "0" "c.2602A>T" "r.(?)" "p.(Thr868Ser)" ""
"0000688396" "00023962" "30" "2335" "0" "2335" "0" "c.2335G>A" "r.(?)" "p.(Ala779Thr)" ""
"0000688397" "00023962" "50" "2168" "0" "2168" "0" "c.2168C>T" "r.(?)" "p.(Pro723Leu)" ""
"0000688398" "00023962" "50" "335" "0" "335" "0" "c.335A>G" "r.(?)" "p.(Gln112Arg)" ""
"0000713628" "00023962" "90" "9733" "0" "9733" "0" "c.9733G>T" "r.(?)" "p.(Asp3245Tyr)" ""
"0000713880" "00023962" "90" "4733" "0" "4733" "0" "c.4733G>C" "r.(?)" "p.(Arg1578Pro)" ""
"0000717974" "00023962" "50" "12923" "0" "12923" "0" "c.12923C>T" "r.(?)" "p.(Thr4308Met)" ""
"0000717975" "00023962" "30" "12420" "0" "12420" "0" "c.12420C>T" "r.(?)" "p.(Tyr4140=)" ""
"0000717976" "00023962" "30" "12376" "0" "12376" "0" "c.12376G>A" "r.(?)" "p.(Gly4126Ser)" ""
"0000717977" "00023962" "50" "11851" "0" "11851" "0" "c.11851G>A" "r.(?)" "p.(Asp3951Asn)" ""
"0000717978" "00023962" "30" "9834" "0" "9834" "0" "c.9834C>T" "r.(?)" "p.(Asp3278=)" ""
"0000717979" "00023962" "50" "8458" "0" "8458" "0" "c.8458C>A" "r.(?)" "p.(Arg2820Ser)" ""
"0000717980" "00023962" "50" "6742" "0" "6742" "0" "c.6742G>A" "r.(?)" "p.(Val2248Ile)" ""
"0000717981" "00023962" "30" "4803" "0" "4803" "0" "c.4803C>T" "r.(?)" "p.(Cys1601=)" ""
"0000717982" "00023962" "50" "3023" "0" "3023" "0" "c.3023C>T" "r.(?)" "p.(Ser1008Phe)" ""
"0000717983" "00023962" "30" "1782" "0" "1782" "0" "c.1782A>G" "r.(?)" "p.(Val594=)" ""
"0000717984" "00023962" "50" "233" "0" "233" "0" "c.233G>C" "r.(?)" "p.(Gly78Ala)" ""
"0000799807" "00023962" "30" "13833" "0" "13833" "0" "c.13833G>A" "r.(?)" "p.(Ala4611=)" ""
"0000799808" "00023962" "10" "13519" "-20" "13519" "-19" "c.13519-20_13519-19del" "r.(=)" "p.(=)" ""
"0000799809" "00023962" "30" "11925" "0" "11925" "0" "c.11925C>T" "r.(?)" "p.(Cys3975=)" ""
"0000799810" "00023962" "50" "11602" "0" "11602" "0" "c.11602G>A" "r.(?)" "p.(Gly3868Ser)" ""
"0000799811" "00023962" "50" "11288" "0" "11288" "0" "c.11288A>T" "r.(?)" "p.(Glu3763Val)" ""
"0000799812" "00023962" "30" "11025" "0" "11025" "0" "c.11025C>G" "r.(?)" "p.(Ala3675=)" ""
"0000799813" "00023962" "50" "10703" "0" "10703" "0" "c.10703C>T" "r.(?)" "p.(Pro3568Leu)" ""
"0000799814" "00023962" "30" "10233" "0" "10233" "0" "c.10233C>T" "r.(?)" "p.(Phe3411=)" ""
"0000799815" "00023962" "30" "10030" "0" "10030" "0" "c.10030G>A" "r.(?)" "p.(Ala3344Thr)" ""
"0000799816" "00023962" "30" "9981" "0" "9981" "0" "c.9981C>G" "r.(?)" "p.(Ala3327=)" ""
"0000799817" "00023962" "50" "8702" "0" "8702" "0" "c.8702A>G" "r.(?)" "p.(His2901Arg)" ""
"0000799818" "00023962" "30" "8699" "-8" "8699" "-8" "c.8699-8C>T" "r.(=)" "p.(=)" ""
"0000799819" "00023962" "50" "8513" "0" "8513" "0" "c.8513G>A" "r.(?)" "p.(Arg2838His)" ""
"0000799820" "00023962" "30" "7516" "0" "7516" "0" "c.7516G>A" "r.(?)" "p.(Val2506Ile)" ""
"0000799821" "00023962" "50" "6784" "0" "6784" "0" "c.6784C>T" "r.(?)" "p.(Arg2262Cys)" ""
"0000799822" "00023962" "30" "6469" "17" "6469" "17" "c.6469+17G>A" "r.(=)" "p.(=)" ""
"0000799823" "00023962" "30" "5974" "0" "5974" "0" "c.5974G>A" "r.(?)" "p.(Ala1992Thr)" ""
"0000799824" "00023962" "50" "5146" "0" "5146" "0" "c.5146T>G" "r.(?)" "p.(Ser1716Ala)" ""
"0000799825" "00023962" "30" "4092" "0" "4092" "0" "c.4092T>C" "r.(?)" "p.(Cys1364=)" ""
"0000799826" "00023962" "30" "3312" "0" "3312" "0" "c.3312C>T" "r.(?)" "p.(His1104=)" ""
"0000799827" "00023962" "30" "2933" "0" "2933" "0" "c.2933C>T" "r.(?)" "p.(Thr978Met)" ""
"0000799828" "00023962" "50" "2813" "0" "2813" "0" "c.2813G>A" "r.(?)" "p.(Arg938Gln)" ""
"0000799829" "00023962" "30" "2435" "0" "2435" "0" "c.2435G>A" "r.(?)" "p.(Arg812Lys)" ""
"0000799830" "00023962" "30" "2274" "0" "2274" "0" "c.2274A>T" "r.(?)" "p.(Ser758=)" ""
"0000799831" "00023962" "30" "2178" "0" "2178" "0" "c.2178G>T" "r.(?)" "p.(Leu726Phe)" ""
"0000799832" "00023962" "50" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Gly694Ser)" ""
"0000799833" "00023962" "30" "1342" "-13" "1342" "-13" "c.1342-13G>A" "r.(=)" "p.(=)" ""
"0000799834" "00023962" "10" "428" "-13" "428" "-8" "c.428-13_428-8del" "r.(=)" "p.(=)" ""
"0000799835" "00023962" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Ala63Thr)" ""
"0000799836" "00023962" "30" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(Ala57=)" ""
"0000821290" "00023962" "70" "4733" "0" "4733" "0" "c.4733G>C" "r.(?)" "p.(Arg1578Pro)" ""
"0000821570" "00023962" "70" "9733" "0" "9733" "0" "c.9733G>T" "r.(?)" "p.(Asp3245Tyr)" ""
"0000849061" "00023962" "30" "12984" "0" "12984" "0" "c.12984G>A" "r.(?)" "p.(Lys4328=)" ""
"0000849062" "00023962" "30" "11787" "0" "11787" "0" "c.11787A>G" "r.(?)" "p.(Thr3929=)" ""
"0000849063" "00023962" "50" "11294" "0" "11294" "0" "c.11294G>A" "r.(?)" "p.(Arg3765Gln)" ""
"0000849064" "00023962" "50" "8990" "0" "8990" "0" "c.8990A>G" "r.(?)" "p.(Glu2997Gly)" ""
"0000849065" "00023962" "50" "8273" "0" "8273" "0" "c.8273A>G" "r.(?)" "p.(Tyr2758Cys)" ""
"0000849066" "00023962" "30" "8209" "19" "8209" "19" "c.8209+19G>A" "r.(=)" "p.(=)" ""
"0000849067" "00023962" "30" "3434" "0" "3434" "0" "c.3434C>T" "r.(?)" "p.(Ser1145Leu)" ""
"0000849068" "00023962" "30" "2079" "0" "2079" "0" "c.2079C>T" "r.(?)" "p.(Phe693=)" ""
"0000849069" "00023962" "90" "1921" "0" "1921" "0" "c.1921del" "r.(?)" "p.(Ala641Leufs*3)" ""
"0000849070" "00023962" "90" "1239" "0" "1239" "0" "c.1239del" "r.(?)" "p.(Phe414Serfs*4)" ""
"0000849071" "00023962" "30" "428" "-10" "428" "-8" "c.428-10_428-8del" "r.(=)" "p.(=)" ""
"0000849072" "00023962" "10" "428" "-9" "428" "-8" "c.428-9_428-8del" "r.(=)" "p.(=)" ""
"0000849073" "00023962" "30" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.(Arg131Gly)" ""
"0000857852" "00023962" "30" "13921" "0" "13921" "0" "c.13921A>T" "r.(?)" "p.(Thr4641Ser)" ""
"0000857853" "00023962" "30" "13881" "0" "13881" "0" "c.13881G>C" "r.(?)" "p.(Ser4627=)" ""
"0000857854" "00023962" "30" "12662" "0" "12662" "0" "c.12662A>G" "r.(?)" "p.(Asn4221Ser)" ""
"0000857855" "00023962" "10" "12151" "4" "12151" "4" "c.12151+4T>C" "r.spl?" "p.?" ""
"0000857856" "00023962" "10" "11759" "-11" "11759" "-11" "c.11759-11T>G" "r.(=)" "p.(=)" ""
"0000857857" "00023962" "50" "8780" "0" "8780" "0" "c.8780G>A" "r.(?)" "p.(Gly2927Asp)" ""
"0000857858" "00023962" "50" "8623" "0" "8623" "0" "c.8623C>T" "r.(?)" "p.(Arg2875Cys)" ""
"0000857859" "00023962" "50" "6176" "0" "6176" "0" "c.6176C>T" "r.(?)" "p.(Ser2059Phe)" ""
"0000857860" "00023962" "50" "5005" "0" "5005" "0" "c.5005A>G" "r.(?)" "p.(Asn1669Asp)" ""
"0000857861" "00023962" "30" "4755" "0" "4755" "0" "c.4755C>T" "r.(?)" "p.(Asp1585=)" ""
"0000857862" "00023962" "50" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381Cys)" ""
"0000857863" "00023962" "50" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Arg365Gln)" ""
"0000857864" "00023962" "50" "1021" "0" "1021" "0" "c.1021A>G" "r.(?)" "p.(Asn341Asp)" ""
"0000883906" "00023962" "10" "12811" "12" "12811" "12" "c.12811+12G>A" "r.(=)" "p.(=)" ""
"0000883907" "00023962" "30" "8831" "-13" "8831" "-13" "c.8831-13G>A" "r.(=)" "p.(=)" ""
"0000883908" "00023962" "10" "6045" "0" "6045" "0" "c.6045C>T" "r.(?)" "p.(Ala2015=)" ""
"0000883909" "00023962" "30" "4803" "0" "4803" "0" "c.4803C>T" "r.(?)" "p.(Cys1601=)" ""
"0000883910" "00023962" "10" "4344" "0" "4344" "0" "c.4344C>G" "r.(?)" "p.(Ala1448=)" ""
"0000883911" "00023962" "10" "1869" "0" "1869" "0" "c.1869C>T" "r.(?)" "p.(Ala623=)" ""
"0000883912" "00023962" "50" "79" "5" "79" "5" "c.79+5G>C" "r.spl?" "p.?" ""
"0000905941" "00023962" "50" "2800" "0" "2800" "0" "c.2800G>A" "r.(?)" "p.(Gly934Ser)" ""
"0000908724" "00023962" "70" "11288" "0" "11288" "0" "c.11288A>T" "r.(?)" "p.(Glu3763Val)" ""
"0000911240" "00023962" "50" "11810" "0" "11810" "0" "c.11810A>G" "r.(?)" "p.(Asn3937Ser)" ""
"0000911241" "00023962" "30" "8901" "0" "8901" "0" "c.8901C>G" "r.(?)" "p.(Pro2967=)" ""
"0000911242" "00023962" "10" "6967" "0" "6967" "0" "c.6967C>T" "r.(?)" "p.(Leu2323=)" ""
"0000911243" "00023962" "30" "6850" "0" "6850" "0" "c.6850A>G" "r.(?)" "p.(Thr2284Ala)" ""
"0000911244" "00023962" "10" "5390" "0" "5390" "0" "c.5390A>G" "r.(?)" "p.(Asn1797Ser)" ""
"0000911245" "00023962" "30" "2908" "18" "2908" "18" "c.2908+18G>A" "r.(=)" "p.(=)" ""
"0000911246" "00023962" "50" "1562" "0" "1562" "0" "c.1562T>C" "r.(?)" "p.(Val521Ala)" ""
"0000911247" "00023962" "10" "1172" "-8" "1172" "-8" "c.1172-8G>A" "r.(=)" "p.(=)" ""
"0000923342" "00023962" "10" "11996" "0" "11996" "0" "c.11996T>G" "r.(?)" "p.(Val3999Gly)" ""
"0000928312" "00023962" "30" "12379" "0" "12379" "0" "c.12379C>A" "r.(?)" "p.(Arg4127Ser)" ""
"0000928313" "00023962" "30" "10165" "0" "10165" "0" "c.10165A>G" "r.(?)" "p.(Ile3389Val)" ""
"0000928314" "00023962" "30" "9650" "0" "9650" "0" "c.9650A>G" "r.(?)" "p.(Tyr3217Cys)" ""
"0000928315" "00023962" "30" "4691" "16" "4691" "16" "c.4691+16A>T" "r.(=)" "p.(=)" ""
"0000947411" "00023962" "30" "10937" "0" "10937" "0" "c.10937G>A" "r.(?)" "p.(Arg3646His)" ""
"0000947412" "00023962" "30" "8901" "0" "8901" "0" "c.8901C>G" "r.(?)" "p.(Pro2967=)" ""
"0000947413" "00023962" "30" "4831" "0" "4831" "0" "c.4831C>T" "r.(?)" "p.(Leu1611=)" ""
"0000960281" "00023962" "50" "11503" "0" "11503" "0" "c.11503C>T" "r.(?)" "p.(Arg3835Cys)" ""
"0000961428" "00023962" "30" "11264" "-14" "11264" "-14" "c.11264-14C>G" "r.(=)" "p.(=)" ""
"0000961431" "00023962" "10" "5085" "0" "5085" "0" "c.5085G>A" "r.(?)" "p.(Ser1695=)" ""
"0000961436" "00023962" "10" "428" "-8" "428" "-8" "c.428-8del" "r.(=)" "p.(=)" ""
"0000974445" "00023962" "30" "12379" "0" "12379" "0" "c.12379C>A" "r.(?)" "p.(Arg4127Ser)" ""
"0000974446" "00023962" "50" "11497" "6" "11497" "6" "c.11497+6T>A" "r.(=)" "p.(=)" ""
"0000974447" "00023962" "50" "11461" "0" "11461" "0" "c.11461G>A" "r.(?)" "p.(Ala3821Thr)" ""
"0000974448" "00023962" "50" "11177" "0" "11177" "0" "c.11177G>A" "r.(?)" "p.(Arg3726His)" ""
"0000974449" "00023962" "50" "10543" "0" "10543" "0" "c.10543A>C" "r.(?)" "p.(Thr3515Pro)" ""
"0000974450" "00023962" "50" "10420" "0" "10420" "0" "c.10420G>A" "r.(?)" "p.(Gly3474Ser)" ""
"0000974451" "00023962" "30" "9329" "-3" "9329" "-3" "c.9329-3C>T" "r.spl?" "p.?" ""
"0000974452" "00023962" "50" "9040" "0" "9040" "0" "c.9040C>T" "r.(?)" "p.(Arg3014Trp)" ""
"0000974453" "00023962" "50" "8633" "0" "8633" "0" "c.8633C>T" "r.(?)" "p.(Pro2878Leu)" ""
"0000974454" "00023962" "50" "8588" "0" "8588" "0" "c.8588C>T" "r.(?)" "p.(Thr2863Met)" ""
"0000974455" "00023962" "50" "8273" "0" "8273" "0" "c.8273A>G" "r.(?)" "p.(Tyr2758Cys)" ""
"0000974456" "00023962" "50" "7747" "0" "7747" "0" "c.7747G>A" "r.(?)" "p.(Val2583Met)" ""
"0000974457" "00023962" "50" "6938" "0" "6938" "0" "c.6938C>T" "r.(?)" "p.(Pro2313Leu)" ""
"0000974458" "00023962" "50" "6858" "0" "6858" "0" "c.6858T>A" "r.(?)" "p.(Phe2286Leu)" ""
"0000974459" "00023962" "50" "6832" "0" "6832" "0" "c.6832C>T" "r.(?)" "p.(Pro2278Ser)" ""
"0000974460" "00023962" "50" "6584" "0" "6584" "0" "c.6584T>C" "r.(?)" "p.(Ile2195Thr)" ""
"0000974461" "00023962" "50" "6368" "0" "6368" "0" "c.6368C>T" "r.(?)" "p.(Ala2123Val)" ""
"0000974462" "00023962" "50" "5781" "0" "5781" "0" "c.5781C>G" "r.(?)" "p.(Asp1927Glu)" ""
"0000974463" "00023962" "50" "5561" "0" "5561" "0" "c.5561T>C" "r.(?)" "p.(Ile1854Thr)" ""
"0000974464" "00023962" "50" "4849" "0" "4849" "0" "c.4849T>A" "r.(?)" "p.(Ser1617Thr)" ""
"0000974465" "00023962" "50" "3355" "0" "3355" "0" "c.3355C>A" "r.(?)" "p.(His1119Asn)" ""
"0000991812" "00023962" "10" "11684" "0" "11684" "0" "c.11684G>A" "r.(?)" "p.(Arg3895His)" ""
"0000991813" "00023962" "70" "11677" "0" "11677" "0" "c.11677A>C" "r.(?)" "p.(Asn3893His)" ""
"0000991814" "00023962" "50" "11372" "0" "11372" "0" "c.11372G>A" "r.(?)" "p.(Arg3791Gln)" ""
"0000991815" "00023962" "30" "11015" "-13" "11015" "-13" "c.11015-13C>A" "r.(=)" "p.(=)" ""
"0000991816" "00023962" "10" "10942" "0" "10942" "0" "c.10942A>G" "r.(?)" "p.(Ile3648Val)" ""
"0000991817" "00023962" "50" "9835" "0" "9835" "0" "c.9835T>G" "r.(?)" "p.(Trp3279Gly)" ""
"0000991818" "00023962" "50" "9256" "0" "9256" "0" "c.9256C>T" "r.(?)" "p.(Arg3086Cys)" ""
"0000991819" "00023962" "50" "7966" "0" "7966" "0" "c.7966G>A" "r.(?)" "p.(Glu2656Lys)" ""
"0000991820" "00023962" "50" "7498" "0" "7498" "0" "c.7498C>T" "r.(?)" "p.(Arg2500Cys)" ""
"0000991821" "00023962" "50" "6728" "0" "6728" "0" "c.6728G>A" "r.(?)" "p.(Arg2243Gln)" ""
"0000991822" "00023962" "30" "6542" "0" "6542" "0" "c.6542G>A" "r.(?)" "p.(Arg2181His)" ""
"0000991823" "00023962" "30" "5470" "0" "5470" "0" "c.5470A>G" "r.(?)" "p.(Met1824Val)" ""
"0000991824" "00023962" "50" "5146" "0" "5146" "0" "c.5146T>G" "r.(?)" "p.(Ser1716Ala)" ""
"0000991825" "00023962" "50" "2747" "0" "2747" "0" "c.2747C>A" "r.(?)" "p.(Pro916Gln)" ""
"0000991826" "00023962" "50" "2618" "0" "2618" "0" "c.2618A>G" "r.(?)" "p.(Asn873Ser)" ""
"0000991827" "00023962" "50" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Arg702Cys)" ""
"0000991828" "00023962" "50" "2014" "0" "2014" "0" "c.2014C>A" "r.(?)" "p.(Gln672Lys)" ""
"0001007543" "00023962" "70" "6971" "0" "6971" "0" "c.6971G>A" "r.(?)" "p.(Arg2324Lys)" ""
"0001007547" "00023962" "70" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Ala2044Thr)" ""
"0001013412" "00023962" "10" "13803" "0" "13803" "0" "c.13803G>A" "r.(?)" "p.(Met4601Ile)" ""
"0001013413" "00023962" "30" "9650" "0" "9650" "0" "c.9650A>G" "r.(?)" "p.(Tyr3217Cys)" ""
"0001013414" "00023962" "10" "8699" "-8" "8699" "-8" "c.8699-8C>T" "r.(=)" "p.(=)" ""
"0001024259" "00023962" "30" "11663" "0" "11663" "0" "c.11663G>A" "r.(?)" "p.(Arg3888His)" ""
"0001024260" "00023962" "30" "10170" "-15" "10170" "-15" "c.10170-15T>G" "r.(=)" "p.(=)" ""
"0001024261" "00023962" "30" "6194" "0" "6194" "0" "c.6194T>C" "r.(?)" "p.(Ile2065Thr)" ""
"0001032502" "00023962" "70" "11498" "-1" "11498" "-1" "c.11498-1G>A" "r.spl?" "p.?" ""
"0001032503" "00023962" "50" "10910" "0" "10910" "0" "c.10910C>T" "r.(?)" "p.(Pro3637Leu)" ""
"0001032504" "00023962" "50" "10652" "0" "10652" "0" "c.10652G>A" "r.(?)" "p.(Arg3551His)" ""
"0001032505" "00023962" "30" "10413" "0" "10413" "0" "c.10413C>T" "r.(?)" "p.(=)" ""
"0001032506" "00023962" "50" "10108" "0" "10108" "0" "c.10108A>G" "r.(?)" "p.(Ile3370Val)" ""
"0001032507" "00023962" "50" "9307" "0" "9307" "0" "c.9307A>G" "r.(?)" "p.(Asn3103Asp)" ""
"0001032508" "00023962" "50" "8984" "0" "8984" "0" "c.8984A>C" "r.(?)" "p.(Glu2995Ala)" ""
"0001032509" "00023962" "50" "7801" "0" "7801" "0" "c.7801T>C" "r.(?)" "p.(Tyr2601His)" ""
"0001032510" "00023962" "30" "7716" "-7" "7716" "-7" "c.7716-7A>G" "r.(=)" "p.(=)" ""
"0001032511" "00023962" "30" "7282" "0" "7282" "0" "c.7282A>G" "r.(?)" "p.(Ser2428Gly)" ""
"0001032512" "00023962" "50" "6722" "0" "6722" "0" "c.6722T>C" "r.(?)" "p.(Val2241Ala)" ""
"0001032513" "00023962" "50" "6487" "0" "6487" "0" "c.6487A>G" "r.(?)" "p.(Asn2163Asp)" ""
"0001032514" "00023962" "30" "6473" "0" "6473" "0" "c.6473A>C" "r.(?)" "p.(Asn2158Thr)" ""
"0001032515" "00023962" "30" "6040" "9" "6040" "9" "c.6040+9T>C" "r.(=)" "p.(=)" ""
"0001032516" "00023962" "50" "2639" "0" "2639" "0" "c.2639C>T" "r.(?)" "p.(Ala880Val)" ""
"0001032517" "00023962" "50" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Arg570His)" ""
"0001032518" "00023962" "50" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Arg490His)" ""
"0001045721" "00023962" "30" "3110" "0" "3110" "0" "c.3110G>A" "r.(?)" "p.(Arg1037Lys)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 36
"{{screeningid}}" "{{variantid}}"
"0000050331" "0000079311"
"0000050331" "0000079647"
"0000050386" "0000079366"
"0000050386" "0000079656"
"0000132722" "0000221909"
"0000132722" "0000221910"
"0000132790" "0000221974"
"0000184032" "0000407996"
"0000276822" "0000630961"
"0000276823" "0000630962"
"0000293519" "0000650208"
"0000293520" "0000650209"
"0000293521" "0000650210"
"0000293522" "0000650211"
"0000293523" "0000650212"
"0000293524" "0000650213"
"0000293525" "0000650214"
"0000293526" "0000650215"
"0000293527" "0000650216"
"0000293528" "0000650217"
"0000293529" "0000650218"
"0000293530" "0000650219"
"0000293531" "0000650220"
"0000305841" "0000669529"
"0000305842" "0000669530"
"0000305843" "0000669531"
"0000305844" "0000669532"
"0000329505" "0000713628"
"0000329505" "0000713880"
"0000391541" "0000821290"
"0000391541" "0000821570"
"0000428250" "0000905941"
"0000429054" "0000908724"
"0000449798" "0000960281"
"0000455364" "0001007543"
"0000455374" "0001007547"