### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NPR2) # 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}}" "NPR2" "natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)" "9" "p21-p12" "unknown" "NG_009249.1" "UD_132118413687" "" "http://www.LOVD.nl/NPR2" "" "1" "7944" "4882" "108961" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/NPR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-16 18:34:10" "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}}" "00014751" "NPR2" "natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)" "001" "NM_003995.3" "" "NP_003986.2" "" "" "" "1" "3430" "3144" "35792406" "35809728" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02442" "AMD1" "dysplasia, acromesomelic, type 1, Maroteaux" "AR" "602875" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-16 17:33:20" "04134" "ECDM" "chondrodysplasia, epiphyseal, Miura type (ECDM)" "AD" "615923" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "04185" "stature, tall" "stature, tall" "" "" "" "" "" "00006" "2015-02-09 15:44:47" "" "" "04597" "SNSK" "stature, short, with nonspecific skeletal abnormalities (SNSK)" "AD" "616255" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06885" "AMD" "dysplasia, acromesomelic" "" "" "" "" "" "00006" "2021-12-16 18:32:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "NPR2" "02442" "NPR2" "04134" "NPR2" "04597" "NPR2" "06885" ## Individuals ## Do not remove or alter this header ## ## Count = 61 "{{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}}" "00029678" "" "" "" "1872" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029806" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029807" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029808" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029809" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029810" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029811" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029812" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029813" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029814" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029815" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029816" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029817" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029818" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029819" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00029820" "" "" "00029678" "1" "" "01216" "" "" "" "" "" "" "0" "" "" "" "" "00033815" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "family, heterozygous carriers have heights below mean for matched controls" "-" "yes" "Brazil" "" "0" "" "" "Brazil" "15146390-Pat1" "00033849" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "-" "yes" "Turks and Caicos Islands" "" "0" "" "" "Turkish" "15146390-Pat2" "00033850" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "?" "no" "United States" "" "0" "" "" "United States" "15146390-Pat3" "00033852" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "yes" "India" "" "0" "" "" "East Indian" "15146390-Pat4" "00033853" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "" "Pakistan" "" "0" "" "" "" "15146390-Pat5" "00034037" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "yes" "(Turkey)" "" "0" "" "" "Turkish" "15146390-Pat9" "00034038" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "no" "United States" "" "0" "" "" "United States" "15146390-Pat10" "00034040" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "yes" "Netherlands" "" "0" "" "" "Dutch" "15146390-Pat11" "00034379" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "15146390-Pat12" "00034380" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "yes" "" "" "0" "" "" "" "15146390-Pat13" "00034381" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "yes" "Netherlands" "" "0" "" "" "Dutch" "15146390-Pat14" "00034382" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "" "" "" "0" "" "" "" "15146390-Pat15" "00034383" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "" "Germany" "" "0" "" "" "German" "15146390-Pat16" "00034542" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "yes" "Lebanon" "" "0" "" "" "Lebanes" "15146390-Pat17" "00034543" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "yes" "Turkey" "" "0" "" "" "Turkish" "15146390-Pat18" "00034544" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "yes" "Oman" "" "0" "" "" "Arab" "15146390-Pat19" "00034545" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "no" "" "" "0" "" "" "" "15146390-Pat20" "00034546" "" "" "" "1" "" "01240" "{PMID:Bartels 2004:15146390}" "" "" "yes" "Lebanon" "" "0" "" "" "Lebanes" "15146390-Pat21" "00034547" "" "" "" "1" "" "01240" "{PMID:Olney 2006:16384845}" "" "F" "" "" "" "0" "" "" "" "16384845-proband" "00034548" "" "" "" "1" "" "01240" "{PMID:Hachiya 2007:17652215}" "" "M" "yes" "Japan" "" "0" "" "" "Japanese" "17652215-FamPatIV3" "00038377" "" "" "" "7" "" "01240" "{PMID:Khan 2012:22691581}" "5-generation family, 7 affwcteds (2F, 5M), unaffected heterozygous relatives" "" "yes" "Pakistan" "" "" "" "" "Punjabi" "22691581-FamA" "00038378" "" "" "" "3" "" "01240" "{PMID:Khan 2012:22691581}" "4-generation family, 3 affwcteds (2F, M), unaffected heterozygous relatives" "" "yes" "Pakistan" "" "" "" "" "Sindhi" "22691582-FamF" "00038379" "" "" "" "1" "" "01240" "" "" "" "yes" "Pakistan" "" "" "" "" "Pashtoon" "Family A" "00038380" "" "" "" "1" "" "01240" "" "" "" "yes" "Pakistan" "" "" "" "" "Pashtoon" "Family B" "00038381" "" "" "" "3" "" "01240" "{PMID:Vasques 2013:24001744}" "2-generation family, affected father and daughter/son" "M" "" "" "" "0" "" "" "" "24001744-FamAPatII1" "00038382" "" "" "" "4" "" "01240" "{PMID:Vasques 2013:24001744}" "3-generation family, 4 affecteds (F, 3M)" "M" "" "" "" "0" "" "" "" "24001744-FamBPatIII1" "00038383" "" "" "" "1" "" "01240" "{PMID:Vasques 2013:24001744}" "2-generation family, 1 affected" "" "" "" "" "" "" "" "" "24001744-FamCPat3" "00038719" "" "" "" "3" "" "01240" "{PMID:Miura 2012:22870295}" "3-generation family, affected grandmother, mother and son, PatIII1" "M" "no" "Japan" "" "0" "" "" "" "22870295-FamPatIII1" "00038720" "" "" "" "1" "" "01240" "{PMID:Hannema 2013:24057292}" "4-generation family, 1 affected, parents not available" "M" "no" "Netherlands" "" "0" "" "" "" "24057292-FamPatIII3" "00038721" "" "" "" "11" "" "01240" "{PMID:Miura 2014:24259409}" "4-generation family, 11 affected (4F, 7M)" "M" "no" "Korea, South (Republic)" "" "0" "" "" "" "24259409-FamPatIV2" "00038722" "" "" "" "2" "" "01240" "{PMID:Amano 2014:24471569}" "2-generation family, affected mother/son" "M" "" "Japan" "" "0" "" "" "Japanese" "24471569-FamPat1" "00038723" "" "" "" "2" "" "01240" "{PMID:Amano 2014:24471569}" "2-generation family, affected mother/daughter" "F" "" "Japan" "" "0" "" "" "Japanese" "24471569-FamPat2" "00108744" "" "" "" "1" "" "00679" "" "" "" "" "" "" "0" "" "" "" "" "00110427" "" "" "" "3" "" "00006" "{PMID:Khan 2012:22691581}" "6-generation family, 3 affwcteds (3M), unaffected heterozygous relatives" "" "yes" "Pakistan" "" "0" "" "" "Punjabi" "22691581-FamB" "00110428" "" "" "" "3" "" "00006" "{PMID:Khan 2012:22691581}" "6-generation family, 3 affwcteds (2F, M), unaffected heterozygous relatives" "" "yes" "Pakistan" "" "0" "" "" "Punjabi" "22691581-FamC" "00110429" "" "" "" "5" "" "00006" "{PMID:Khan 2012:22691581}" "6-generation family, 5 affwcteds (F, 4M), unaffected heterozygous relatives" "" "yes" "Pakistan" "" "0" "" "" "Punjabi" "22691581-FamD" "00110430" "" "" "" "5" "" "00006" "{PMID:Khan 2012:22691581}" "5-generation family, 5 affwcteds (4F, M), unaffected heterozygous relatives" "" "yes" "Pakistan" "" "0" "" "" "Punjabi" "22691581-FamE" "00110431" "" "" "" "1" "" "00006" "{PMID:Amano 2014:24471569}" "" "?" "" "Japan" "" "0" "" "" "" "24471569-Pat3" "00179511" "" "" "" "5" "" "02556" "{PMID:Ain 2019:30359775}" "5-genration family, 6 affected (F, 5M), heterozygous carriers with slightly short hands and feet" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamNAD-08" "00179513" "" "" "" "4" "" "02556" "{PMID:Ain 2019:30359775}" "4-generation family, 4 affected (F, 3M), heterozygous carriers have short hands and feet" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamNAD-09" "00179514" "" "" "" "4" "" "02556" "{PMID:Ain 2019:30359775}" "4-generation family, 4 affected sisters" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMid-02" "00179516" "" "" "" "2" "" "02556" "{PMID:Ain 2019:30359775}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Finland" "" "0" "" "" "" "FamFD-01" "00331529" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "" "15DG1164" "00419622" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20130" "00459491" "" "" "" "2" "" "04787" "" "" "F" "yes" "Pakistan" "" "" "" "" "" "TID-09 V:1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 61 "{{individualid}}" "{{diseaseid}}" "00029678" "04184" "00029806" "04184" "00029807" "04184" "00029808" "04184" "00029809" "04184" "00029810" "04184" "00029811" "04184" "00029812" "04184" "00029813" "04184" "00029814" "04184" "00029815" "04184" "00029816" "04185" "00029817" "04185" "00029818" "04184" "00029819" "04184" "00029820" "04184" "00033815" "02442" "00033849" "02442" "00033850" "02442" "00033852" "02442" "00033853" "02442" "00034037" "02442" "00034038" "02442" "00034040" "02442" "00034379" "02442" "00034380" "02442" "00034381" "02442" "00034382" "02442" "00034383" "02442" "00034542" "02442" "00034543" "02442" "00034544" "02442" "00034545" "02442" "00034546" "02442" "00034547" "02442" "00034548" "02442" "00038377" "02442" "00038378" "02442" "00038379" "02442" "00038380" "02442" "00038381" "04184" "00038382" "04184" "00038383" "04184" "00038719" "04185" "00038720" "04185" "00038721" "04185" "00038722" "04184" "00038723" "04184" "00108744" "02442" "00110427" "02442" "00110428" "02442" "00110429" "02442" "00110430" "02442" "00110431" "04184" "00179511" "02442" "00179513" "02442" "00179514" "02442" "00179516" "02442" "00331529" "05517" "00419622" "00198" "00459491" "02442" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02442, 04134, 04184, 04185, 04597, 05517, 06885 ## Count = 45 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Growth/Height_SDS}}" "{{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}}" "0000025871" "04184" "00029814" "01216" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025872" "04184" "00029818" "01216" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027212" "02442" "00033815" "01240" "Familial, autosomal recessive" "" "Acromesomelic dysplasia Maroteaux type (AMDM); height mother 162cm, height father 168cm" "" "" "" "" "" "" "" "" "" "" "" "" "0000027251" "02442" "00033849" "01240" "Familial, autosomal recessive" "" "Acromesomelic dysplasia Maroteaux type (AMDM)\r\nThe father of affected individuals showed height below normal i.e. 170 cm (normal 175.1)" "" "" "" "" "" "" "" "" "" "" "" "" "0000027437" "02442" "00033850" "01240" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027438" "02442" "00033852" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027439" "02442" "00033853" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027440" "02442" "00034037" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027441" "02442" "00034040" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027442" "02442" "00034038" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027896" "02442" "00034379" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027897" "02442" "00034380" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027898" "02442" "00034381" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027899" "02442" "00034382" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027900" "02442" "00034383" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027962" "02442" "00034548" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027963" "02442" "00034542" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027964" "02442" "00034543" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027965" "02442" "00034544" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027966" "02442" "00034545" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027967" "02442" "00034547" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027968" "02442" "00034546" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087071" "02442" "00038377" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "0000087072" "02442" "00110427" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "0000087073" "02442" "00110428" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "0000087074" "02442" "00110429" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "0000087075" "02442" "00110430" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "0000087076" "02442" "00038378" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "0000087078" "04184" "00038381" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "0000087079" "04184" "00038382" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "0000087080" "02442" "00038379" "01240" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087081" "02442" "00038380" "01240" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087083" "04184" "00038383" "01240" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000087084" "04185" "00038719" "01240" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000087085" "04185" "00038720" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000087086" "04185" "00038721" "01240" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000087087" "04184" "00038722" "01240" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000087088" "04184" "00038723" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000142003" "02442" "00179511" "02556" "Familial, autosomal recessive" "" "see paper; ..., markedly short forearms, short and broad fingers and toes and broad forehead, broad face, limited extension elbows, normal motor milestones" "" "" "" "" "" "" "" "" "" "AMDM" "" "" "0000142004" "02442" "00179513" "02556" "Familial, autosomal recessive" "" "see paper; ..., markedly short forearms, short and broad fingers and toes, limited extension elbows, normal motor milestones, severe pain in back for last few years; heterozygous carriers have short hands and feet" "" "" "" "" "" "" "" "" "" "AMDM" "" "" "0000142005" "02442" "00179514" "02556" "Familial, autosomal recessive" "" "see paper; ..., markedly short forearms, short and broad fingers and toes, limited extension elbows, normal motor milestones" "" "" "" "" "" "" "" "" "" "AMDM" "" "" "0000142006" "02442" "00179516" "02556" "Familial, autosomal recessive" "" "see paper; ..., broad forehead, low nasal bridge, markedly short forearms short and broad fingers and toes, limited extension elbows, normal motor milestones" "" "" "" "" "" "" "" "" "" "AMDM" "" "" "0000249721" "05517" "00331529" "00000" "Familial, autosomal recessive" "" "Non-Arab ( Depressed nasal bridge, Hypertelorism, Bilateral postaxial polydactyly" "" "" "" "" "" "" "" "" "" "Acromelic dysplasias" "skeletal dysplasia" "" "0000310903" "00198" "00419622" "02300" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000347568" "02442" "00459491" "04787" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "AMD1" "acromesomelic dysplasia Maroteaux type" "" ## Screenings ## Do not remove or alter this header ## ## Count = 61 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029721" "00029678" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029849" "00029806" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029850" "00029807" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029851" "00029808" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029852" "00029809" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029853" "00029810" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029854" "00029811" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029855" "00029812" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029856" "00029813" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029857" "00029814" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029858" "00029815" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029859" "00029816" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029860" "00029817" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029861" "00029818" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029862" "00029819" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029863" "00029820" "1" "01216" "01216" "2015-01-27 02:25:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000033880" "00033815" "1" "01240" "01240" "2015-03-06 01:12:08" "" "" "SEQ" "DNA" "Blood" "" "0000033916" "00033849" "1" "01240" "01240" "2015-03-06 23:58:53" "" "" "SEQ" "DNA" "Blood" "" "0000033917" "00033850" "1" "01240" "01240" "2015-03-07 00:16:24" "" "" "SEQ" "DNA" "Blood" "" "0000033919" "00033852" "1" "01240" "01240" "2015-03-07 00:46:10" "" "" "SEQ" "DNA" "Blood" "" "0000033920" "00033853" "1" "01240" "01240" "2015-03-07 00:56:39" "" "" "SEQ" "DNA" "Blood" "" "0000034105" "00034037" "1" "01240" "01240" "2015-03-09 09:51:26" "" "" "SEQ" "DNA" "Blood" "" "0000034106" "00034038" "1" "01240" "01240" "2015-03-09 10:05:24" "" "" "SEQ" "DNA" "Blood" "" "0000034108" "00034040" "1" "01240" "01240" "2015-03-09 10:23:47" "" "" "SEQ" "DNA" "Blood" "" "0000034448" "00034379" "1" "01240" "01240" "2015-03-16 12:53:32" "" "" "SEQ" "DNA" "Blood" "" "0000034449" "00034380" "1" "01240" "01240" "2015-03-16 13:08:37" "" "" "SEQ" "DNA" "Blood" "" "0000034450" "00034381" "1" "01240" "01240" "2015-03-16 13:29:22" "" "" "SEQ" "DNA" "Blood" "" "0000034451" "00034382" "1" "01240" "01240" "2015-03-16 13:43:57" "" "" "SEQ" "DNA" "Blood" "" "0000034452" "00034383" "1" "01240" "01240" "2015-03-16 13:52:55" "" "" "SEQ" "DNA" "Blood" "" "0000034613" "00034542" "1" "01240" "01240" "2015-03-26 10:15:19" "" "" "SEQ" "DNA" "Blood" "" "0000034614" "00034543" "1" "01240" "01240" "2015-03-26 10:38:55" "" "" "SEQ" "DNA" "Blood" "" "0000034615" "00034544" "1" "01240" "01240" "2015-03-26 10:45:52" "" "" "SEQ" "DNA" "Blood" "" "0000034616" "00034545" "1" "01240" "01240" "2015-03-26 10:58:55" "" "" "SEQ" "DNA" "Blood" "" "0000034617" "00034546" "1" "01240" "01240" "2015-03-26 11:11:32" "" "" "SEQ" "DNA" "Blood" "" "0000034618" "00034547" "1" "01240" "01240" "2015-03-26 11:46:35" "" "" "PCRdig" "DNA" "" "" "0000034619" "00034548" "1" "01240" "01240" "2015-03-26 12:19:36" "" "" "SEQ" "DNA" "" "" "0000038608" "00038377" "1" "01240" "01240" "2015-05-07 09:52:44" "" "" "SEQ" "DNA" "Blood" "" "0000038609" "00038378" "1" "01240" "01240" "2015-05-07 10:00:51" "" "" "SEQ" "DNA" "Blood" "" "0000038610" "00038379" "1" "01240" "01240" "2015-05-07 10:08:35" "" "" "SEQ" "DNA" "Blood" "" "0000038611" "00038380" "1" "01240" "01240" "2015-05-07 10:16:06" "" "" "SEQ" "DNA" "Blood" "" "0000038612" "00038381" "1" "01240" "01240" "2015-05-07 10:48:49" "" "" "SEQ" "DNA" "Blood" "" "0000038613" "00038382" "1" "01240" "01240" "2015-05-07 11:01:41" "" "" "SEQ" "DNA" "Blood" "" "0000038614" "00038383" "1" "01240" "01240" "2015-05-07 11:06:19" "" "" "SEQ" "DNA" "Blood" "" "0000038954" "00038719" "1" "01240" "01240" "2015-05-27 12:10:36" "" "" "SEQ" "DNA" "" "" "0000038955" "00038720" "1" "01240" "01240" "2015-05-27 12:34:48" "" "" "SEQ-NG" "DNA" "Blood" "" "0000038956" "00038721" "1" "01240" "01240" "2015-05-27 13:01:28" "" "" "SEQ" "DNA" "Blood" "" "0000038957" "00038722" "1" "01240" "01240" "2015-05-27 13:24:50" "" "" "?" "DNA" "" "" "0000038958" "00038723" "1" "01240" "01240" "2015-05-27 13:31:49" "" "" "?" "DNA" "Blood" "" "0000109209" "00108744" "1" "00679" "00679" "2017-07-28 16:45:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000110892" "00110427" "1" "00006" "00006" "2015-05-07 09:59:40" "" "" "SEQ" "DNA" "Blood" "" "0000110893" "00110428" "1" "00006" "00006" "2015-05-07 10:45:31" "" "" "SEQ" "DNA" "Blood" "" "0000110894" "00110429" "1" "00006" "00006" "2015-05-07 11:00:35" "" "" "SEQ" "DNA" "Blood" "" "0000110895" "00110430" "1" "00006" "00006" "2015-05-07 11:05:21" "" "" "SEQ" "DNA" "Blood" "" "0000110898" "00110431" "1" "00006" "00006" "2017-07-30 11:28:28" "" "" "SEQ" "DNA" "" "" "0000180415" "00179511" "1" "02556" "02556" "2018-08-23 14:31:41" "" "" "SEQ" "DNA" "" "" "0000180416" "00179513" "1" "02556" "02556" "2018-08-23 14:49:50" "" "" "SEQ" "DNA" "" "" "0000180417" "00179514" "1" "02556" "02556" "2018-08-23 14:54:32" "" "" "SEQ" "DNA" "" "" "0000180419" "00179516" "1" "02556" "02556" "2018-08-23 15:45:07" "" "" "SEQ" "DNA" "" "" "0000332748" "00331529" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420926" "00419622" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461116" "00459491" "1" "04787" "04787" "2025-01-06 09:18:18" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 58 "{{screeningid}}" "{{geneid}}" "0000029721" "NPR2" "0000029849" "NPR2" "0000029850" "NPR2" "0000029851" "NPR2" "0000029852" "NPR2" "0000029853" "NPR2" "0000029854" "NPR2" "0000029855" "NPR2" "0000029856" "NPR2" "0000029857" "NPR2" "0000029858" "NPR2" "0000029859" "NPR2" "0000029860" "NPR2" "0000029861" "NPR2" "0000029862" "NPR2" "0000029863" "NPR2" "0000033880" "NPR2" "0000033916" "NPR2" "0000033917" "NPR2" "0000033919" "NPR2" "0000033920" "NPR2" "0000034105" "NPR2" "0000034106" "NPR2" "0000034108" "NPR2" "0000034448" "NPR2" "0000034449" "NPR2" "0000034450" "NPR2" "0000034451" "NPR2" "0000034452" "NPR2" "0000034613" "NPR2" "0000034614" "NPR2" "0000034615" "NPR2" "0000034616" "NPR2" "0000034617" "NPR2" "0000034618" "NPR2" "0000034619" "NPR2" "0000038608" "NPR2" "0000038609" "NPR2" "0000038610" "NPR2" "0000038611" "NPR2" "0000038612" "NPR2" "0000038613" "NPR2" "0000038614" "NPR2" "0000038954" "NPR2" "0000038955" "NPR2" "0000038956" "NPR2" "0000038957" "NPR2" "0000038958" "NPR2" "0000110892" "NPR2" "0000110893" "NPR2" "0000110894" "NPR2" "0000110895" "NPR2" "0000110898" "NPR2" "0000180415" "NPR2" "0000180416" "NPR2" "0000180417" "NPR2" "0000180419" "NPR2" "0000332748" "NPR2" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 285 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000055941" "0" "70" "9" "35801066" "35801066" "subst" "0" "01216" "NPR2_000001" "g.35801066G>A" "1/1872 cases" "" "" "" "" "De novo" "" "" "0" "" "" "g.35801069G>A" "" "likely pathogenic" "" "0000055942" "0" "70" "9" "35792547" "35792547" "subst" "4.09098E-6" "01216" "NPR2_000005" "g.35792547G>T" "1/1872 cases" "" "" "" "" "Germline" "" "" "0" "" "" "g.35792550G>T" "" "likely pathogenic" "" "0000055943" "0" "70" "9" "35800429" "35800429" "subst" "8.12269E-6" "01216" "NPR2_000006" "g.35800429G>T" "1/1872 cases" "" "" "" "" "Germline" "" "" "0" "" "" "g.35800432G>T" "" "likely pathogenic" "" "0000055944" "0" "70" "9" "35801684" "35801684" "subst" "0" "01216" "NPR2_000007" "g.35801684T>G" "1/1872 cases" "" "" "" "" "Germline" "" "" "0" "" "" "g.35801687T>G" "" "likely pathogenic" "" "0000055945" "0" "30" "9" "35802215" "35802215" "subst" "8.13001E-6" "01216" "NPR2_000008" "g.35802215G>A" "1/1872 cases" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35802218G>A" "" "likely benign" "" "0000055946" "0" "50" "9" "35792896" "35792896" "subst" "7.31077E-5" "01216" "NPR2_000009" "g.35792896C>G" "1/1872 cases" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35792899C>G" "" "VUS" "" "0000055947" "0" "30" "9" "35806217" "35806217" "subst" "0.000276351" "01216" "NPR2_000004" "g.35806217C>T" "1/1872 cases" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35806220C>T" "" "likely benign" "" "0000055948" "0" "30" "9" "35792721" "35792721" "subst" "0" "01216" "NPR2_000010" "g.35792721G>T" "1/1872 cases" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35792724G>T" "" "likely benign" "" "0000055949" "0" "30" "9" "35802591" "35802591" "subst" "0" "01216" "NPR2_000012" "g.35802591G>C" "1/1872 cases" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35802594G>C" "" "likely benign" "" "0000055950" "0" "70" "9" "35807393" "35807393" "subst" "0" "01216" "NPR2_000002" "g.35807393A>T" "1/1872 cases" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35807396A>T" "" "likely pathogenic" "" "0000055951" "0" "70" "9" "35801720" "35801720" "subst" "0.000105596" "01216" "NPR2_000011" "g.35801720G>A" "1/1872 cases" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35801723G>A" "" "likely pathogenic" "" "0000055952" "0" "30" "9" "35793966" "35793966" "subst" "0.000105574" "01216" "NPR2_000013" "g.35793966A>G" "1/1872 cases" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35793969A>G" "" "likely benign" "" "0000055953" "0" "70" "9" "35802255" "35802255" "subst" "0" "01216" "NPR2_000015" "g.35802255G>A" "1/1872 cases" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35802258G>A" "" "likely pathogenic" "" "0000055954" "0" "70" "9" "35806465" "35806465" "subst" "0" "01216" "NPR2_000003" "g.35806465G>A" "1/1872 cases" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35806468G>A" "" "likely pathogenic" "" "0000055955" "0" "30" "9" "35806196" "35806196" "subst" "0" "01216" "NPR2_000016" "g.35806196G>A" "1/1872 cases" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35806199G>A" "" "likely benign" "" "0000055956" "0" "70" "9" "35805602" "35805602" "subst" "0" "01216" "NPR2_000014" "g.35805602C>A" "1/1872 cases" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35805605C>A" "" "likely pathogenic" "" "0000060723" "3" "90" "9" "35792499" "35792499" "subst" "0" "01240" "NPR2_000017" "g.35792499C>A" "" "{PMID:Bartels 2004:15146390}, {OMIM108961:0001}" "" "" "" "Germline" "yes" "rs28931581" "0" "" "" "g.35792502C>A" "" "pathogenic" "" "0000060765" "3" "90" "9" "35792748" "35792748" "subst" "0" "01240" "NPR2_000018" "g.35792748T>G" "" "{PMID:Bartels 2004:15146390}, {OMIM108961:0002}" "" "" "" "Germline" "yes" "rs28931582" "0" "" "" "g.35792751T>G" "" "pathogenic" "" "0000060766" "21" "70" "9" "35792933" "35792933" "subst" "0" "01240" "NPR2_000019" "g.35792933T>A" "" "{PMID:Bartels 2004:15146390}, {OMIM108961:0003}" "" "" "" "Germline" "" "rs28929479" "0" "" "" "g.35792936T>A" "" "likely pathogenic" "" "0000060768" "3" "90" "9" "35794071" "35794071" "subst" "0" "01240" "NPR2_000021" "g.35794071C>T" "" "{PMID:Bartels 2004:15146390}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35794074C>T" "" "pathogenic" "" "0000060769" "3" "90" "9" "35799631" "35799631" "subst" "4.06058E-6" "01240" "NPR2_000022" "g.35799631C>T" "" "{PMID:Bartels 2004:15146390}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35799634C>T" "" "pathogenic" "" "0000061113" "3" "90" "9" "35800044" "35800044" "subst" "0" "01240" "NPR2_000023" "g.35800044A>G" "" "{PMID:Bartels 2004:15146390}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35800047A>G" "" "pathogenic" "" "0000061114" "11" "90" "9" "35800142" "35800142" "subst" "0" "01240" "NPR2_000025" "g.35800142C>T" "" "{PMID:Bartels 2004:15146390}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35800145C>T" "" "pathogenic" "" "0000061116" "3" "90" "9" "35800712" "35800712" "subst" "0" "01240" "NPR2_000024" "g.35800712G>A" "" "{PMID:Bartels 2004:15146390}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35800715G>A" "" "pathogenic" "" "0000061121" "11" "90" "9" "35800424" "35800424" "subst" "1.2184E-5" "01240" "NPR2_000020" "g.35800424C>T" "" "{PMID:Bartels 2004:15146390}, {OMIM108961:0004}" "" "" "" "Germline" "yes" "rs121912739" "0" "" "" "g.35800427C>T" "" "pathogenic" "" "0000061122" "21" "90" "9" "35800801" "35800802" "del" "0" "01240" "NPR2_000026" "g.35800801_35800802del" "" "{PMID:Bartels 2004:15146390}" "" "1314_1315delCT" "" "Germline" "yes" "" "0" "" "" "g.35800804_35800805del" "" "pathogenic" "" "0000061462" "3" "90" "9" "35800725" "35800725" "subst" "0" "01240" "NPR2_000027" "g.35800725G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35800728G>A" "" "pathogenic" "" "0000061463" "3" "90" "9" "35800782" "35800782" "del" "0" "01240" "NPR2_000028" "g.35800782del" "" "" "" "1294delC" "" "Germline" "" "" "0" "" "" "g.35800785del" "" "pathogenic" "" "0000061464" "3" "90" "9" "35801701" "35801701" "subst" "0" "01240" "NPR2_000029" "g.35801701C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35801704C>T" "" "pathogenic" "" "0000061465" "0" "70" "9" "35802802" "35802802" "subst" "0" "01240" "NPR2_000030" "g.35802802T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35802805T>A" "" "likely pathogenic" "" "0000061466" "3" "90" "9" "35805902" "35805902" "subst" "0" "01240" "NPR2_000031" "g.35805902A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35805905A>G" "" "pathogenic" "" "0000061729" "0" "90" "9" "35806162" "35806165" "delins" "0" "01240" "NPR2_000033" "g.35806162_35806165delinsCTGATGGA" "" "" "" "" "" "Not applicable" "" "" "0" "" "" "g.35806165_35806168delinsCTGATGGA" "" "pathogenic" "" "0000061730" "3" "90" "9" "35806184" "35806184" "subst" "8.12269E-6" "01240" "NPR2_000034" "g.35806184C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35806187C>T" "" "pathogenic" "" "0000061731" "3" "90" "9" "35808662" "35808662" "subst" "1.2182E-5" "01240" "NPR2_000035" "g.35808662C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35808665C>T" "" "pathogenic" "" "0000061732" "1" "90" "9" "35808669" "35808669" "subst" "0" "01240" "NPR2_000036" "g.35808669G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35808672G>C" "" "pathogenic" "" "0000061733" "1" "90" "9" "35801152" "35801152" "subst" "4.062E-6" "01240" "NPR2_000037" "g.35801152G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35801155G>T" "" "pathogenic" "" "0000061734" "3" "90" "9" "35809230" "35809230" "del" "0" "01240" "NPR2_000039" "g.35809230del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35809233del" "" "pathogenic" "" "0000061735" "3" "90" "9" "35800123" "35800123" "del" "0" "01240" "NPR2_000038" "g.35800123del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35800126del" "" "pathogenic" "" "0000061736" "3" "90" "9" "35805592" "35805592" "subst" "0" "01240" "NPR2_000032" "g.35805592C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35805595C>T" "" "pathogenic" "" "0000066262" "3" "90" "9" "35808513" "35808513" "subst" "0" "01240" "NPR2_000040" "g.35808513C>T" "" "{PMID:Khan 2012:22691581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35808516C>T" "" "pathogenic" "" "0000066263" "3" "90" "9" "35808852" "35808852" "subst" "0" "01240" "NPR2_000041" "g.35808852T>G" "" "{PMID:Khan 2012:22691581}" "" "" "not in 500 control chromosomes" "Germline" "yes" "" "0" "" "" "g.35808855T>G" "" "pathogenic" "" "0000066264" "0" "90" "9" "35802590" "35802590" "subst" "0" "01240" "NPR2_000051" "g.35802590C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35802593C>A" "" "pathogenic" "" "0000066265" "3" "90" "9" "35806103" "35806103" "subst" "4.06085E-6" "01240" "NPR2_000042" "g.35806103C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35806106C>T" "" "pathogenic" "" "0000066266" "11" "90" "9" "35792631" "35792631" "subst" "0" "01240" "NPR2_000046" "g.35792631T>C" "" "{PMID:Vasques 2013:24001744}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35792634T>C" "" "pathogenic" "" "0000066267" "11" "90" "9" "35794015" "35794015" "subst" "0" "01240" "NPR2_000048" "g.35794015G>C" "" "{PMID:Vasques 2013:24001744}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35794018G>C" "" "pathogenic" "" "0000066268" "21" "90" "9" "35806471" "35806471" "subst" "2.03069E-5" "01240" "NPR2_000043" "g.35806471C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35806474C>T" "" "pathogenic" "" "0000066781" "21" "90" "9" "35807330" "35807330" "subst" "0" "01240" "NPR2_000044" "g.35807330G>A" "" "{PMID:Miura 2012:22870295}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35807333G>A" "" "pathogenic" "" "0000066782" "1" "90" "9" "35805583" "35805583" "subst" "4.06055E-6" "01240" "NPR2_000045" "g.35805583C>T" "" "{PMID:Hannema 2013:24057292}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35805586C>T" "" "pathogenic" "" "0000066783" "11" "90" "9" "35801665" "35801665" "subst" "0" "01240" "NPR2_000050" "g.35801665G>C" "" "{PMID:Miura 2014:24259409}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35801668G>C" "" "pathogenic" "" "0000066784" "21" "90" "9" "35792733" "35792733" "subst" "4.06118E-6" "01240" "NPR2_000047" "g.35792733C>T" "" "{PMID:Amano 2014:24471569}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35792736C>T" "" "pathogenic" "" "0000066785" "21" "90" "9" "35800736" "35800736" "subst" "4.06134E-6" "01240" "NPR2_000049" "g.35800736C>G" "" "{PMID:Amano 2014:24471569}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35800739C>G" "" "pathogenic" "" "0000175312" "21" "70" "9" "35792682" "35792682" "subst" "0" "00679" "NPR2_000052" "g.35792682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.35792685C>T" "" "likely pathogenic" "" "0000175313" "11" "70" "9" "35808830" "35808830" "subst" "8.12117E-6" "00679" "NPR2_000053" "g.35808830G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.35808833G>T" "" "likely pathogenic" "" "0000177873" "3" "90" "9" "35808513" "35808513" "subst" "0" "00006" "NPR2_000040" "g.35808513C>T" "" "{PMID:Khan 2012:22691581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35808516C>T" "" "pathogenic" "" "0000177875" "3" "90" "9" "35808513" "35808513" "subst" "0" "00006" "NPR2_000040" "g.35808513C>T" "" "{PMID:Khan 2012:22691581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35808516C>T" "" "pathogenic" "" "0000177876" "3" "90" "9" "35808513" "35808513" "subst" "0" "00006" "NPR2_000040" "g.35808513C>T" "" "{PMID:Khan 2012:22691581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35808516C>T" "" "pathogenic" "" "0000177877" "3" "90" "9" "35808513" "35808513" "subst" "0" "00006" "NPR2_000040" "g.35808513C>T" "" "{PMID:Khan 2012:22691581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35808516C>T" "" "pathogenic" "" "0000177880" "0" "30" "9" "35792964" "35792964" "subst" "2.8478E-5" "00006" "NPR2_000054" "g.35792964G>A" "" "{PMID:Amano 2014:24471569}" "" "" "" "Germline" "" "" "0" "" "" "g.35792967G>A" "" "likely benign" "" "0000296605" "0" "10" "9" "35802583" "35802583" "subst" "0.226555" "02325" "NPR2_000057" "g.35802583C>T" "" "" "" "NPR2(NM_003995.4):c.1794C>T (p.Y598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35802586C>T" "" "benign" "" "0000296606" "0" "10" "9" "35792423" "35792423" "subst" "0.227564" "02325" "NPR2_000055" "g.35792423T>C" "" "" "" "NPR2(NM_003995.4):c.18T>C (p.L6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35792426T>C" "" "benign" "" "0000296607" "0" "10" "9" "35807406" "35807414" "del" "0" "02325" "NPR2_000058" "g.35807406_35807414del" "" "" "" "NPR2(NM_003995.4):c.2712+11_2712+19delGGGCCGCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35807409_35807417del" "" "benign" "" "0000304507" "0" "50" "9" "35794060" "35794060" "subst" "3.25061E-5" "01943" "NPR2_000056" "g.35794060G>A" "" "" "" "NPR2(NM_003995.3):c.833G>A (p.R278H, p.(Arg278His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35794063G>A" "" "VUS" "" "0000403898" "3" "90" "9" "35792773" "35792773" "subst" "4.06081E-6" "02556" "NPR2_000059" "g.35792773G>T" "" "{PMID:Ain 2019:30359775}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35792776G>T" "" "pathogenic (dominant)" "" "0000403899" "3" "90" "9" "35800447" "35800447" "subst" "0" "02556" "NPR2_000061" "g.35800447G>A" "" "{PMID:Ain 2019:30359775}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35800450G>A" "" "pathogenic (dominant)" "" "0000403901" "3" "90" "9" "35794099" "35794099" "subst" "0" "02556" "NPR2_000060" "g.35794099A>G" "" "{PMID:Ain 2019:30359775}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35794102A>G" "" "pathogenic (recessive)" "" "0000403902" "11" "90" "9" "35808829" "35808829" "subst" "0" "02556" "NPR2_000062" "g.35808829C>T" "" "{PMID:Ain 2019:30359775}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35808832C>T" "" "pathogenic (recessive)" "" "0000403909" "21" "90" "9" "35808830" "35808830" "subst" "8.12117E-6" "02556" "NPR2_000053" "g.35808830G>T" "" "{PMID:Ain 2019:30359775}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35808833G>T" "" "pathogenic (recessive)" "" "0000538137" "0" "50" "9" "35792703" "35792703" "subst" "0" "01804" "NPR2_000063" "g.35792703G>C" "" "" "" "NPR2(NM_003995.3):c.298G>C (p.(Gly100Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35792706G>C" "" "VUS" "" "0000538138" "0" "50" "9" "35793055" "35793055" "subst" "0" "02327" "NPR2_000064" "g.35793055T>C" "" "" "" "NPR2(NM_003995.3):c.650T>C (p.(Ile217Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35793058T>C" "" "VUS" "" "0000538139" "0" "30" "9" "35793958" "35793958" "subst" "0" "01804" "NPR2_000065" "g.35793958A>C" "" "" "" "NPR2(NM_003995.3):c.731A>C (p.(Asn244Thr)), NPR2(NM_003995.4):c.731A>C (p.N244T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35793961A>C" "" "likely benign" "" "0000538140" "0" "50" "9" "35794057" "35794057" "subst" "4.87464E-5" "01804" "NPR2_000066" "g.35794057A>G" "" "" "" "NPR2(NM_003995.3):c.830A>G (p.(Asn277Ser)), NPR2(NM_003995.4):c.830A>G (p.N277S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35794060A>G" "" "VUS" "" "0000538141" "0" "30" "9" "35794113" "35794113" "subst" "0.00373833" "01804" "NPR2_000067" "g.35794113C>A" "" "" "" "NPR2(NM_003995.3):c.873+13C>A (p.(=)), NPR2(NM_003995.4):c.873+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35794116C>A" "" "likely benign" "" "0000538142" "0" "70" "9" "35799658" "35799658" "subst" "0" "01804" "NPR2_000068" "g.35799658A>G" "" "" "" "NPR2(NM_003995.3):c.917A>G (p.(Tyr306Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35799661A>G" "" "likely pathogenic" "" "0000538143" "0" "30" "9" "35800030" "35800030" "subst" "0.000414227" "01804" "NPR2_000069" "g.35800030C>T" "" "" "" "NPR2(NM_003995.3):c.999C>T (p.(Ile333=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35800033C>T" "" "likely benign" "" "0000538144" "0" "70" "9" "35800031" "35800031" "subst" "4.06118E-6" "02327" "NPR2_000070" "g.35800031G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35800034G>A" "" "likely pathogenic" "" "0000538145" "0" "90" "9" "35800712" "35800712" "subst" "0" "01804" "NPR2_000024" "g.35800712G>A" "" "" "" "NPR2(NM_003995.3):c.1225G>A (p.(Ala409Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35800715G>A" "" "pathogenic" "" "0000538146" "0" "50" "9" "35800749" "35800749" "subst" "7.31071E-5" "01804" "NPR2_000071" "g.35800749C>T" "" "" "" "NPR2(NM_003995.3):c.1262C>T (p.(Thr421Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35800752C>T" "" "VUS" "" "0000538147" "0" "30" "9" "35800807" "35800807" "subst" "6.09127E-5" "01804" "NPR2_000072" "g.35800807C>T" "" "" "" "NPR2(NM_003995.3):c.1320C>T (p.(Ala440=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35800810C>T" "" "likely benign" "" "0000538148" "0" "70" "9" "35801931" "35801932" "del" "0" "02327" "NPR2_000073" "g.35801931_35801932del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35801934_35801935del" "" "likely pathogenic" "" "0000538149" "0" "50" "9" "35802240" "35802240" "subst" "1.22029E-5" "01804" "NPR2_000074" "g.35802240G>A" "" "" "" "NPR2(NM_003995.3):c.1670G>A (p.(Arg557His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35802243G>A" "" "VUS" "" "0000538151" "0" "50" "9" "35805652" "35805652" "subst" "0" "01804" "NPR2_000076" "g.35805652C>T" "" "" "" "NPR2(NM_003995.3):c.2032C>T (p.(His678Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35805655C>T" "" "VUS" "" "0000538152" "0" "30" "9" "35805678" "35805678" "subst" "0.00125887" "01804" "NPR2_000077" "g.35805678C>T" "" "" "" "NPR2(NM_003995.3):c.2047+11C>T (p.(=)), NPR2(NM_003995.4):c.2047+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35805681C>T" "" "likely benign" "" "0000538153" "0" "30" "9" "35806248" "35806248" "subst" "0.000508266" "01804" "NPR2_000078" "g.35806248G>A" "" "" "" "NPR2(NM_003995.3):c.2372+18G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35806251G>A" "" "likely benign" "" "0000538154" "0" "50" "9" "35806469" "35806472" "del" "0" "02329" "NPR2_000079" "g.35806469_35806472del" "" "" "" "NPR2(NM_003995.4):c.2453_2456delAACG (p.E818Afs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35806472_35806475del" "" "VUS" "" "0000538155" "0" "90" "9" "35808513" "35808513" "subst" "0" "02327" "NPR2_000040" "g.35808513C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35808516C>T" "" "pathogenic" "" "0000538156" "0" "50" "9" "35808632" "35808632" "subst" "0.000117767" "02327" "HINT2_000001" "g.35808632C>T" "" "" "" "NPR2(NM_003995.3):c.2839C>T (p.(Arg947Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35808635C>T" "" "VUS" "" "0000538157" "0" "50" "9" "35808644" "35808644" "subst" "0" "02327" "HINT2_000002" "g.35808644C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35808647C>G" "" "VUS" "" "0000538158" "0" "30" "9" "35808860" "35808860" "subst" "0" "01804" "HINT2_000003" "g.35808860T>A" "" "" "" "NPR2(NM_003995.3):c.2986+10T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35808863T>A" "" "likely benign" "" "0000538159" "0" "30" "9" "35810122" "35810122" "subst" "2.0531E-5" "01804" "HINT2_000004" "g.35810122C>T" "" "" "" "SPAG8(NM_001039592.1):c.1271G>A (p.(Ser424Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35810125C>T" "" "likely benign" "" "0000538160" "0" "30" "9" "35811445" "35811445" "subst" "0.00278452" "01804" "HINT2_000005" "g.35811445C>T" "" "" "" "SPAG8(NM_001039592.1):c.598G>A (p.(Gly200Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35811448C>T" "" "likely benign" "" "0000538161" "0" "30" "9" "35811697" "35811697" "subst" "0.000154336" "01804" "HINT2_000006" "g.35811697C>T" "" "" "" "SPAG8(NM_001039592.1):c.346G>A (p.(Val116Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35811700C>T" "" "likely benign" "" "0000612114" "0" "30" "9" "35792495" "35792495" "subst" "0.000408453" "01804" "NPR2_000080" "g.35792495G>A" "" "" "" "NPR2(NM_003995.3):c.90G>A (p.(Val30=)), NPR2(NM_003995.4):c.90G>A (p.V30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35792498G>A" "" "likely benign" "" "0000612115" "0" "70" "9" "35792644" "35792644" "subst" "0" "02327" "NPR2_000081" "g.35792644C>A" "" "" "" "NPR2(NM_003995.3):c.239C>A (p.(Ala80Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35792647C>A" "" "likely pathogenic" "" "0000612117" "0" "50" "9" "35806426" "35806426" "subst" "4.06101E-6" "02327" "NPR2_000082" "g.35806426C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35806429C>T" "" "VUS" "" "0000656357" "0" "90" "9" "35800712" "35800712" "subst" "0" "02327" "NPR2_000024" "g.35800712G>A" "" "" "" "NPR2(NM_003995.3):c.1225G>A (p.(Ala409Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35800715G>A" "" "pathogenic" "" "0000678673" "0" "50" "9" "35792649" "35792649" "subst" "2.43853E-5" "01804" "NPR2_000083" "g.35792649C>A" "" "" "" "NPR2(NM_003995.3):c.244C>A (p.(Leu82Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678674" "0" "50" "9" "35802584" "35802584" "subst" "0" "01804" "NPR2_000084" "g.35802584T>C" "" "" "" "NPR2(NM_003995.3):c.1795T>C (p.(Cys599Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678675" "0" "90" "9" "35802802" "35802802" "subst" "0" "02327" "NPR2_000030" "g.35802802T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000703843" "0" "70" "9" "35806471" "35806471" "subst" "2.03069E-5" "03779" "NPR2_000043" "g.35806471C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs766256429" "0" "" "" "" "" "likely pathogenic" "" "0000703844" "0" "70" "9" "35808769" "35808769" "subst" "0" "03779" "NPR2_000085" "g.35808769G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703845" "0" "70" "9" "35792631" "35792631" "subst" "0" "03779" "NPR2_000046" "g.35792631T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs796065355" "0" "" "" "" "" "likely pathogenic" "" "0000722522" "0" "50" "9" "35792545" "35792545" "subst" "0" "01804" "NPR2_000086" "g.35792545C>G" "" "" "" "NPR2(NM_003995.3):c.140C>G (p.(Pro47Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722523" "0" "30" "9" "35792648" "35792648" "subst" "2.43902E-5" "01804" "NPR2_000087" "g.35792648G>A" "" "" "" "NPR2(NM_003995.3):c.243G>A (p.(Pro81=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722524" "0" "50" "9" "35794057" "35794057" "subst" "4.87464E-5" "02329" "NPR2_000066" "g.35794057A>G" "" "" "" "NPR2(NM_003995.3):c.830A>G (p.(Asn277Ser)), NPR2(NM_003995.4):c.830A>G (p.N277S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722525" "0" "70" "9" "35800482" "35800482" "subst" "0" "01943" "NPR2_000088" "g.35800482T>A" "" "" "" "NPR2(NM_003995.3):c.1218+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722526" "0" "50" "9" "35801765" "35801765" "subst" "4.06144E-6" "02327" "NPR2_000089" "g.35801765G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722527" "0" "30" "9" "35802611" "35802611" "subst" "0" "01804" "NPR2_000090" "g.35802611G>A" "" "" "" "NPR2(NM_003995.3):c.1815+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730030" "3" "90" "9" "35794071" "35794071" "subst" "0" "00000" "NPR2_000021" "g.35794071C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_003995.3:c.844C>T:p.(Gln282*)" "" "Germline" "" "" "0" "" "" "g.35794074C>T" "" "pathogenic (recessive)" "" "0000804123" "0" "50" "9" "35792644" "35792644" "subst" "0" "01804" "NPR2_000081" "g.35792644C>A" "" "" "" "NPR2(NM_003995.3):c.239C>A (p.(Ala80Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804124" "0" "70" "9" "35799636" "35799636" "subst" "4.06062E-6" "01804" "NPR2_000091" "g.35799636C>T" "" "" "" "NPR2(NM_003995.3):c.895C>T (p.(Arg299Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804125" "0" "50" "9" "35800140" "35800140" "subst" "0" "02327" "NPR2_000092" "g.35800140G>A" "" "" "" "NPR2(NM_003995.3):c.1109G>A (p.(Gly370Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804126" "0" "70" "9" "35805583" "35805583" "subst" "0" "01804" "NPR2_000093" "g.35805583C>A" "" "" "" "NPR2(NM_003995.3):c.1963C>A (p.(Arg655Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804127" "0" "30" "9" "35809443" "35809443" "subst" "8.12156E-6" "02327" "HINT2_000007" "g.35809443A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841421" "0" "50" "9" "35801681" "35801681" "subst" "8.12506E-6" "03779" "NPR2_000094" "g.35801681G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs762074063" "0" "" "" "" "" "VUS" "" "0000842549" "0" "90" "9" "35808638" "35808638" "subst" "4.06091E-6" "03779" "NPR2_000095" "g.35808638C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1452208078" "0" "" "" "" "" "pathogenic" "" "0000842550" "0" "70" "9" "35808638" "35808638" "subst" "4.06091E-6" "03779" "NPR2_000095" "g.35808638C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1452208078" "0" "" "" "" "" "likely pathogenic" "" "0000852277" "0" "30" "9" "35792754" "35792754" "subst" "0" "02327" "NPR2_000098" "g.35792754C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852278" "0" "30" "9" "35809385" "35809385" "subst" "0.000475127" "02329" "HINT2_000016" "g.35809385A>C" "" "" "" "NPR2(NM_003995.3):c.3087A>C (p.(Gly1029=)), NPR2(NM_003995.4):c.3087A>C (p.G1029=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861646" "0" "90" "9" "35792514" "35792524" "del" "0" "01804" "NPR2_000096" "g.35792514_35792524del" "" "" "" "NPR2(NM_003995.3):c.109_119del (p.(Ser37GlyfsTer37))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861647" "0" "50" "9" "35792629" "35792629" "subst" "0" "01804" "NPR2_000097" "g.35792629G>T" "" "" "" "NPR2(NM_003995.3):c.224G>T (p.(Cys75Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861648" "0" "30" "9" "35792834" "35792834" "subst" "1.62429E-5" "01804" "NPR2_000099" "g.35792834C>T" "" "" "" "NPR2(NM_003995.3):c.429C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861649" "0" "50" "9" "35792896" "35792896" "subst" "7.31077E-5" "01804" "NPR2_000009" "g.35792896C>G" "" "" "" "NPR2(NM_003995.3):c.491C>G (p.(Ala164Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861650" "0" "50" "9" "35792907" "35792907" "subst" "0" "01804" "NPR2_000100" "g.35792907T>G" "" "" "" "NPR2(NM_003995.3):c.502T>G (p.(Leu168Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861651" "0" "30" "9" "35793085" "35793085" "subst" "0" "01804" "NPR2_000101" "g.35793085T>C" "" "" "" "NPR2(NM_003995.3):c.667+13T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861652" "0" "30" "9" "35793891" "35793891" "subst" "0.000828413" "01804" "NPR2_000102" "g.35793891C>A" "" "" "" "NPR2(NM_003995.3):c.668-4C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861653" "0" "30" "9" "35793924" "35793924" "subst" "0.000381695" "01804" "NPR2_000103" "g.35793924C>T" "" "" "" "NPR2(NM_003995.3):c.697C>T (p.(Leu233=)), NPR2(NM_003995.4):c.697C>T (p.L233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861654" "0" "50" "9" "35794055" "35794055" "subst" "0" "01804" "NPR2_000104" "g.35794055C>G" "" "" "" "NPR2(NM_003995.3):c.828C>G (p.(Asp276Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861655" "0" "30" "9" "35794066" "35794066" "subst" "8.12883E-6" "01804" "NPR2_000105" "g.35794066G>A" "" "" "" "NPR2(NM_003995.3):c.839G>A (p.(Arg280Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861656" "0" "50" "9" "35794101" "35794101" "subst" "0" "01804" "NPR2_000106" "g.35794101G>T" "" "" "" "NPR2(NM_003995.3):c.873+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861657" "0" "50" "9" "35799690" "35799690" "subst" "4.06055E-6" "01804" "NPR2_000107" "g.35799690G>T" "" "" "" "NPR2(NM_003995.3):c.949G>T (p.(Ala317Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861658" "0" "50" "9" "35800143" "35800143" "subst" "8.12262E-6" "01804" "NPR2_000108" "g.35800143G>A" "" "" "" "NPR2(NM_003995.3):c.1112G>A (p.(Arg371Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861659" "0" "50" "9" "35800848" "35800848" "subst" "0.000422338" "01804" "NPR2_000109" "g.35800848T>C" "" "" "" "NPR2(NM_003995.3):c.1351+10T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861660" "0" "50" "9" "35801687" "35801687" "subst" "4.0625E-6" "01804" "NPR2_000110" "g.35801687G>A" "" "" "" "NPR2(NM_003995.3):c.1484G>A (p.(Arg495His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861661" "0" "90" "9" "35801701" "35801701" "subst" "0" "02327" "NPR2_000029" "g.35801701C>T" "" "" "" "NPR2(NM_003995.3):c.1498C>T (p.(Gln500Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861662" "0" "30" "9" "35801745" "35801745" "subst" "0" "01804" "NPR2_000111" "g.35801745C>T" "" "" "" "NPR2(NM_003995.3):c.1542C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861663" "0" "50" "9" "35801986" "35801986" "subst" "0.000154524" "01804" "NPR2_000112" "g.35801986G>A" "" "" "" "NPR2(NM_003995.3):c.1621G>A (p.(Gly541Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861664" "0" "30" "9" "35801994" "35801994" "subst" "1.62688E-5" "01804" "NPR2_000113" "g.35801994C>T" "" "" "" "NPR2(NM_003995.3):c.1629C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861665" "0" "50" "9" "35802215" "35802215" "subst" "8.13001E-6" "01804" "NPR2_000008" "g.35802215G>A" "" "" "" "NPR2(NM_003995.3):c.1645G>A (p.(Ala549Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861666" "0" "30" "9" "35802296" "35802299" "dup" "0" "01804" "NPR2_000114" "g.35802296_35802299dup" "" "" "" "NPR2(NM_003995.3):c.1710+16_1710+19dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861667" "0" "30" "9" "35802492" "35802492" "del" "0" "01804" "NPR2_000115" "g.35802492del" "" "" "" "NPR2(NM_003995.3):c.1711-8del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861668" "0" "30" "9" "35802618" "35802618" "subst" "4.06147E-6" "01804" "NPR2_000116" "g.35802618G>A" "" "" "" "NPR2(NM_003995.3):c.1815+14G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861669" "0" "30" "9" "35802619" "35802619" "subst" "0" "01804" "NPR2_000117" "g.35802619T>C" "" "" "" "NPR2(NM_003995.3):c.1815+15T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861670" "0" "50" "9" "35805658" "35805658" "subst" "4.06058E-6" "01804" "NPR2_000118" "g.35805658C>T" "" "" "" "NPR2(NM_003995.3):c.2038C>T (p.(Leu680Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861671" "0" "50" "9" "35805974" "35805974" "subst" "0" "01804" "NPR2_000119" "g.35805974G>C" "" "" "" "NPR2(NM_003995.3):c.2195G>C (p.(Ser732Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861672" "0" "90" "9" "35806079" "35806079" "subst" "0" "01804" "NPR2_000120" "g.35806079C>T" "" "" "" "NPR2(NM_003995.3):c.2221C>T (p.(Arg741*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861673" "0" "50" "9" "35806118" "35806118" "subst" "8.12163E-5" "01804" "NPR2_000121" "g.35806118C>T" "" "" "" "NPR2(NM_003995.3):c.2260C>T (p.(Arg754Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861674" "0" "50" "9" "35807086" "35807086" "subst" "0" "01804" "NPR2_000122" "g.35807086C>G" "" "" "" "NPR2(NM_003995.3):c.2586C>G (p.(Ile862Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861675" "0" "30" "9" "35807316" "35807316" "subst" "4.06068E-6" "01804" "NPR2_000123" "g.35807316A>G" "" "" "" "NPR2(NM_003995.3):c.2644-11A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861676" "0" "50" "9" "35807361" "35807361" "subst" "0" "02327" "NPR2_000124" "g.35807361T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861677" "0" "70" "9" "35807390" "35807390" "subst" "0" "01804" "NPR2_000125" "g.35807390T>C" "" "" "" "NPR2(NM_003995.3):c.2707T>C (p.(Tyr903His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861678" "0" "30" "9" "35807410" "35807410" "subst" "8.14458E-6" "01804" "NPR2_000126" "g.35807410C>T" "" "" "" "NPR2(NM_003995.3):c.2712+15C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861679" "0" "30" "9" "35807414" "35807414" "subst" "8.14153E-6" "01804" "NPR2_000127" "g.35807414G>A" "" "" "" "NPR2(NM_003995.3):c.2712+19G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861680" "0" "30" "9" "35808495" "35808495" "subst" "1.64295E-5" "01804" "HINT2_000008" "g.35808495C>T" "" "" "" "NPR2(NM_003995.3):c.2713-11C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861681" "0" "50" "9" "35808572" "35808572" "subst" "0" "01804" "HINT2_000009" "g.35808572G>A" "" "" "" "NPR2(NM_003995.3):c.2779G>A (p.(Ala927Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861682" "0" "50" "9" "35808587" "35808587" "subst" "4.06739E-6" "01804" "HINT2_000010" "g.35808587C>T" "" "" "" "NPR2(NM_003995.3):c.2794C>T (p.(Arg932Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861683" "0" "50" "9" "35808594" "35808594" "subst" "0" "02327" "HINT2_000011" "g.35808594C>T" "" "" "" "NPR2(NM_003995.3):c.2801C>T (p.(Ala934Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861684" "0" "50" "9" "35808662" "35808662" "subst" "1.2182E-5" "01804" "NPR2_000035" "g.35808662C>T" "" "" "" "NPR2(NM_003995.3):c.2869C>T (p.(Arg957Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861685" "0" "50" "9" "35808759" "35808759" "subst" "8.1211E-6" "01804" "HINT2_000012" "g.35808759C>A" "" "" "" "NPR2(NM_003995.3):c.2895C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861686" "0" "30" "9" "35808762" "35808762" "subst" "0" "01804" "HINT2_000013" "g.35808762T>C" "" "" "" "NPR2(NM_003995.3):c.2898T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861687" "0" "30" "9" "35808863" "35808863" "subst" "0" "01804" "HINT2_000014" "g.35808863C>T" "" "" "" "NPR2(NM_003995.3):c.2986+13C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861688" "0" "50" "9" "35809230" "35809230" "subst" "0" "01804" "HINT2_000015" "g.35809230G>A" "" "" "" "NPR2(NM_003995.3):c.3064G>A (p.(Asp1022Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861689" "0" "30" "9" "35809517" "35809517" "subst" "5.68685E-5" "01804" "HINT2_000017" "g.35809517C>T" "" "" "" "NPR2(NM_003995.3):c.*75C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878328" "0" "50" "9" "35800452" "35800452" "subst" "0" "03779" "NPR2_000128" "g.35800452T>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000881285" "3" "70" "9" "35805844" "35805844" "subst" "0" "02300" "NPR2_000129" "g.35805844C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.35805847C>T" "" "likely pathogenic (recessive)" "ACMG" "0000888837" "0" "50" "9" "35792458" "35792458" "subst" "0" "01804" "NPR2_000130" "g.35792458G>C" "" "" "" "NPR2(NM_003995.3):c.53G>C (p.(Arg18Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888838" "0" "30" "9" "35792612" "35792612" "subst" "8.13597E-6" "01804" "NPR2_000131" "g.35792612C>T" "" "" "" "NPR2(NM_003995.3):c.207C>T (p.(Ser69=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888839" "0" "30" "9" "35792693" "35792693" "subst" "2.03065E-5" "01804" "NPR2_000132" "g.35792693G>A" "" "" "" "NPR2(NM_003995.3):c.288G>A (p.(Leu96=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888840" "0" "50" "9" "35793901" "35793901" "subst" "0" "01804" "NPR2_000133" "g.35793901A>G" "" "" "" "NPR2(NM_003995.3):c.674A>G (p.(Tyr225Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888841" "0" "30" "9" "35794082" "35794082" "subst" "2.44262E-5" "01804" "NPR2_000134" "g.35794082C>G" "" "" "" "NPR2(NM_003995.3):c.855C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888842" "0" "50" "9" "35799728" "35799728" "subst" "0" "01804" "NPR2_000135" "g.35799728G>C" "" "" "" "NPR2(NM_003995.3):c.987G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888843" "0" "50" "9" "35800112" "35800112" "subst" "4.06128E-6" "01804" "NPR2_000136" "g.35800112G>A" "" "" "" "NPR2(NM_003995.3):c.1081G>A (p.(Gly361Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888844" "0" "30" "9" "35801991" "35801991" "subst" "0" "01804" "NPR2_000137" "g.35801991C>G" "" "" "" "NPR2(NM_003995.3):c.1626C>G (p.(His542Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888845" "0" "30" "9" "35802819" "35802819" "subst" "0" "01804" "NPR2_000138" "g.35802819T>C" "" "" "" "NPR2(NM_003995.3):c.1887+19T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888846" "0" "50" "9" "35805551" "35805551" "subst" "4.06055E-6" "02327" "NPR2_000139" "g.35805551G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888847" "0" "50" "9" "35805929" "35805929" "subst" "1.62656E-5" "01804" "NPR2_000140" "g.35805929T>C" "" "" "" "NPR2(NM_003995.3):c.2150T>C (p.(Ile717Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888848" "0" "50" "9" "35806471" "35806471" "subst" "2.03069E-5" "01804" "NPR2_000043" "g.35806471C>T" "" "" "" "NPR2(NM_003995.3):c.2455C>T (p.(Arg819Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888849" "0" "50" "9" "35807327" "35807327" "subst" "0.000109642" "01804" "NPR2_000141" "g.35807327G>A" "" "" "" "NPR2(NM_003995.3):c.2644G>A (p.(Val882Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888850" "0" "50" "9" "35808632" "35808632" "subst" "0.000117767" "01804" "HINT2_000001" "g.35808632C>T" "" "" "" "NPR2(NM_003995.3):c.2839C>T (p.(Arg947Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888851" "0" "50" "9" "35808757" "35808757" "subst" "0" "01804" "HINT2_000018" "g.35808757G>T" "" "" "" "NPR2(NM_003995.3):c.2893G>T (p.(Val965Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888852" "0" "50" "9" "35808757" "35808757" "subst" "0" "02327" "HINT2_000018" "g.35808757G>T" "" "" "" "NPR2(NM_003995.3):c.2893G>T (p.(Val965Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888853" "0" "50" "9" "35809224" "35809224" "subst" "0" "01804" "HINT2_000019" "g.35809224C>T" "" "" "" "NPR2(NM_003995.3):c.3058C>T (p.(Arg1020Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888854" "0" "30" "9" "35809385" "35809385" "subst" "0.000475127" "01804" "HINT2_000016" "g.35809385A>C" "" "" "" "NPR2(NM_003995.3):c.3087A>C (p.(Gly1029=)), NPR2(NM_003995.4):c.3087A>C (p.G1029=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888855" "0" "50" "9" "35809429" "35809429" "subst" "0" "01804" "HINT2_000020" "g.35809429C>T" "" "" "" "NPR2(NM_003995.3):c.3131C>T (p.(Pro1044Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888856" "0" "50" "9" "35809452" "35809452" "subst" "8.12163E-6" "01804" "HINT2_000021" "g.35809452C>A" "" "" "" "SPAG8(NM_172312.1):c.1321G>T (p.(Glu441*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913157" "0" "50" "9" "35802259" "35802259" "subst" "0" "01804" "NPR2_000142" "g.35802259G>C" "" "" "" "NPR2(NM_003995.3):c.1689G>C (p.(Gln563His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913158" "0" "50" "9" "35805542" "35805542" "subst" "3.24844E-5" "02325" "NPR2_000075" "g.35805542C>T" "" "" "" "NPR2(NM_003995.4):c.1922C>T (p.S641L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913159" "0" "50" "9" "35805572" "35805572" "subst" "0" "01804" "NPR2_000143" "g.35805572T>G" "" "" "" "NPR2(NM_003995.3):c.1952T>G (p.(Val651Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913160" "0" "30" "9" "35806544" "35806544" "subst" "0.000434504" "01804" "NPR2_000144" "g.35806544T>C" "" "" "" "NPR2(NM_003995.3):c.2519+9T>C (p.(=)), NPR2(NM_003995.4):c.2519+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913161" "0" "50" "9" "35808791" "35808791" "subst" "0" "02327" "HINT2_000022" "g.35808791G>A" "" "" "" "NPR2(NM_003995.3):c.2927G>A (p.(Arg976His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925045" "0" "50" "9" "35792815" "35792815" "subst" "0" "01804" "NPR2_000145" "g.35792815G>A" "" "" "" "NPR2(NM_003995.3):c.410G>A (p.(Arg137His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925046" "0" "50" "9" "35793055" "35793055" "subst" "0" "01804" "NPR2_000064" "g.35793055T>C" "" "" "" "NPR2(NM_003995.3):c.650T>C (p.(Ile217Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925047" "0" "30" "9" "35793924" "35793924" "subst" "0.000381695" "02329" "NPR2_000103" "g.35793924C>T" "" "" "" "NPR2(NM_003995.3):c.697C>T (p.(Leu233=)), NPR2(NM_003995.4):c.697C>T (p.L233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925048" "0" "50" "9" "35793985" "35793985" "subst" "0" "01804" "NPR2_000146" "g.35793985T>G" "" "" "" "NPR2(NM_003995.3):c.758T>G (p.(Phe253Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925049" "0" "30" "9" "35806139" "35806139" "subst" "8.1213E-6" "01804" "NPR2_000147" "g.35806139C>T" "" "" "" "NPR2(NM_003995.3):c.2281C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925050" "0" "50" "9" "35806217" "35806217" "subst" "0.000276351" "01804" "NPR2_000004" "g.35806217C>T" "" "" "" "NPR2(NM_003995.3):c.2359C>T (p.(Arg787Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925051" "0" "50" "9" "35809239" "35809239" "subst" "0" "01804" "HINT2_000023" "g.35809239A>G" "" "" "" "NPR2(NM_003995.3):c.3073A>G (p.(Met1025Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929609" "0" "30" "9" "35793875" "35793875" "subst" "0" "01804" "NPR2_000148" "g.35793875T>C" "" "" "" "NPR2(NM_003995.3):c.668-20T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929610" "0" "30" "9" "35800024" "35800024" "subst" "2.84269E-5" "01804" "NPR2_000149" "g.35800024C>T" "" "" "" "NPR2(NM_003995.3):c.993C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929611" "0" "50" "9" "35805562" "35805562" "subst" "0" "02325" "NPR2_000150" "g.35805562T>G" "" "" "" "NPR2(NM_003995.4):c.1942T>G (p.S648A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929612" "0" "50" "9" "35807072" "35807072" "subst" "4.06065E-6" "02327" "NPR2_000151" "g.35807072G>A" "" "" "" "NPR2(NM_003995.3):c.2572G>A (p.(Asp858Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929613" "0" "30" "9" "35808508" "35808508" "subst" "4.10314E-6" "01804" "HINT2_000024" "g.35808508G>A" "" "" "" "NPR2(NM_003995.3):c.2715G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929615" "0" "30" "9" "35811592" "35811592" "subst" "4.07887E-6" "01804" "HINT2_000025" "g.35811592A>G" "" "" "" "SPAG8(NM_001039592.1):c.451T>C (p.(Ser151Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929616" "0" "30" "9" "35811879" "35811879" "subst" "1.67307E-5" "01804" "HINT2_000026" "g.35811879G>A" "" "" "" "SPAG8(NM_001039592.1):c.164C>T (p.(Ala55Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949293" "0" "70" "9" "35792773" "35792773" "subst" "0" "02325" "NPR2_000152" "g.35792773G>A" "" "" "" "NPR2(NM_003995.4):c.368G>A (p.G123D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949294" "0" "50" "9" "35793958" "35793958" "subst" "0" "02329" "NPR2_000065" "g.35793958A>C" "" "" "" "NPR2(NM_003995.3):c.731A>C (p.(Asn244Thr)), NPR2(NM_003995.4):c.731A>C (p.N244T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949295" "0" "30" "9" "35800438" "35800438" "subst" "0" "01804" "NPR2_000153" "g.35800438T>C" "" "" "" "NPR2(NM_003995.3):c.1176T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949296" "0" "50" "9" "35800800" "35800800" "subst" "2.84257E-5" "01804" "NPR2_000154" "g.35800800C>T" "" "" "" "NPR2(NM_003995.3):c.1313C>T (p.(Pro438Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949297" "0" "50" "9" "35805608" "35805608" "subst" "0" "02327" "NPR2_000155" "g.35805608A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949298" "0" "10" "9" "35805678" "35805678" "subst" "0.00125887" "02329" "NPR2_000077" "g.35805678C>T" "" "" "" "NPR2(NM_003995.3):c.2047+11C>T (p.(=)), NPR2(NM_003995.4):c.2047+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949299" "0" "50" "9" "35805911" "35805911" "subst" "0" "02327" "NPR2_000156" "g.35805911G>A" "" "" "" "NPR2(NM_003995.4):c.2132G>A (p.G711E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965420" "0" "10" "9" "35794113" "35794113" "subst" "0.00373833" "02329" "NPR2_000067" "g.35794113C>A" "" "" "" "NPR2(NM_003995.3):c.873+13C>A (p.(=)), NPR2(NM_003995.4):c.873+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965421" "0" "30" "9" "35800159" "35800159" "subst" "1.21825E-5" "01804" "NPR2_000157" "g.35800159T>A" "" "" "" "NPR2(NM_003995.3):c.1123+5T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965422" "0" "90" "9" "35801150" "35801150" "subst" "0" "01804" "NPR2_000158" "g.35801150C>T" "" "" "" "NPR2(NM_003995.3):c.1435C>T (p.(Arg479Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965423" "0" "90" "9" "35801701" "35801701" "subst" "0" "01804" "NPR2_000029" "g.35801701C>T" "" "" "" "NPR2(NM_003995.3):c.1498C>T (p.(Gln500Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965424" "0" "30" "9" "35802721" "35802721" "subst" "0" "02329" "NPR2_000159" "g.35802721C>T" "" "" "" "NPR2(NM_003995.4):c.1816-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965425" "0" "30" "9" "35802752" "35802752" "subst" "0" "01804" "NPR2_000160" "g.35802752C>T" "" "" "" "NPR2(NM_003995.3):c.1839C>T (p.(Ile613=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965426" "0" "50" "9" "35805562" "35805562" "subst" "0" "02327" "NPR2_000150" "g.35805562T>G" "" "" "" "NPR2(NM_003995.4):c.1942T>G (p.S648A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965427" "0" "30" "9" "35805811" "35805811" "subst" "1.62571E-5" "01804" "NPR2_000161" "g.35805811G>A" "" "" "" "NPR2(NM_003995.3):c.2048-16G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965428" "0" "30" "9" "35806835" "35806835" "subst" "0" "02329" "NPR2_000162" "g.35806835C>T" "" "" "" "NPR2(NM_003995.4):c.2520-185C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965429" "0" "50" "9" "35807111" "35807111" "subst" "0" "01804" "NPR2_000163" "g.35807111A>C" "" "" "" "NPR2(NM_003995.3):c.2611A>C (p.(Thr871Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965430" "0" "90" "9" "35808554" "35808554" "subst" "0" "01804" "HINT2_000027" "g.35808554C>T" "" "" "" "NPR2(NM_003995.3):c.2761C>T (p.(Arg921Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965431" "0" "50" "9" "35808566" "35808566" "subst" "4.07495E-5" "01804" "HINT2_000028" "g.35808566C>T" "" "" "" "NPR2(NM_003995.3):c.2773C>T (p.(Arg925Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965432" "0" "50" "9" "35808587" "35808587" "subst" "4.06739E-6" "02327" "HINT2_000010" "g.35808587C>T" "" "" "" "NPR2(NM_003995.3):c.2794C>T (p.(Arg932Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978700" "0" "30" "9" "35792495" "35792495" "subst" "0.000408453" "02329" "NPR2_000080" "g.35792495G>A" "" "" "" "NPR2(NM_003995.3):c.90G>A (p.(Val30=)), NPR2(NM_003995.4):c.90G>A (p.V30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978701" "0" "50" "9" "35793952" "35793952" "subst" "2.84239E-5" "01804" "NPR2_000164" "g.35793952G>A" "" "" "" "NPR2(NM_003995.3):c.725G>A (p.(Arg242Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978702" "0" "70" "9" "35800018" "35800018" "subst" "0" "02327" "NPR2_000165" "g.35800018G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978703" "0" "30" "9" "35800819" "35800819" "subst" "7.7158E-5" "01804" "NPR2_000166" "g.35800819C>T" "" "" "" "NPR2(NM_003995.3):c.1332C>T (p.(Asp444=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978704" "0" "50" "9" "35801720" "35801720" "subst" "0.000105596" "01804" "NPR2_000011" "g.35801720G>A" "" "" "" "NPR2(NM_003995.4):c.1517G>A (p.(Arg506His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978705" "0" "90" "9" "35805583" "35805583" "subst" "4.06055E-6" "01804" "NPR2_000045" "g.35805583C>T" "" "" "" "NPR2(NM_003995.4):c.1963C>T (p.(Arg655Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978706" "0" "30" "9" "35805897" "35805897" "subst" "4.06339E-5" "01804" "NPR2_000167" "g.35805897C>T" "" "" "" "NPR2(NM_003995.3):c.2118C>T (p.(Asp706=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978707" "0" "50" "9" "35807072" "35807072" "subst" "4.06065E-6" "01804" "NPR2_000151" "g.35807072G>A" "" "" "" "NPR2(NM_003995.3):c.2572G>A (p.(Asp858Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978708" "0" "50" "9" "35807369" "35807369" "subst" "2.03097E-5" "01804" "NPR2_000168" "g.35807369A>G" "" "" "" "NPR2(NM_003995.3):c.2686A>G (p.(Ile896Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978709" "0" "30" "9" "35809510" "35809510" "subst" "0" "01804" "HINT2_000029" "g.35809510C>G" "" "" "" "NPR2(NM_003995.3):c.*68C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997869" "0" "70" "9" "35794006" "35794006" "dup" "0" "01804" "NPR2_000169" "g.35794006dup" "" "" "" "NPR2(NM_003995.3):c.779dup (p.(Ser261GlufsTer45))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997870" "0" "50" "9" "35794060" "35794060" "subst" "3.25061E-5" "01804" "NPR2_000056" "g.35794060G>A" "" "" "" "NPR2(NM_003995.3):c.833G>A (p.R278H, p.(Arg278His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997871" "0" "30" "9" "35794090" "35794090" "subst" "8.161E-6" "01804" "NPR2_000170" "g.35794090A>C" "" "" "" "NPR2(NM_003995.3):c.863A>C (p.(Glu288Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997872" "0" "50" "9" "35799624" "35799624" "subst" "0" "01804" "NPR2_000171" "g.35799624G>A" "" "" "" "NPR2(NM_003995.3):c.883G>A (p.(Val295Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997873" "0" "90" "9" "35800424" "35800424" "subst" "1.2184E-5" "01804" "NPR2_000020" "g.35800424C>T" "" "" "" "NPR2(NM_003995.3):c.1162C>T (p.(Arg388Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997874" "0" "50" "9" "35800484" "35800484" "subst" "0" "01804" "NPR2_000172" "g.35800484A>G" "" "" "" "NPR2(NM_003995.3):c.1218+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997875" "0" "30" "9" "35801688" "35801688" "subst" "4.06187E-6" "01804" "NPR2_000173" "g.35801688C>G" "" "" "" "NPR2(NM_003995.3):c.1485C>G (p.(Arg495=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997876" "0" "70" "9" "35801719" "35801719" "subst" "0" "01804" "NPR2_000174" "g.35801719C>A" "" "" "" "NPR2(NM_003995.3):c.1516C>A (p.(Arg506Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997877" "0" "50" "9" "35801743" "35801743" "subst" "1.21833E-5" "02329" "NPR2_000175" "g.35801743C>T" "" "" "" "NPR2(NM_003995.4):c.1540C>T (p.R514C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997878" "0" "30" "9" "35802607" "35802607" "subst" "6.90456E-5" "01804" "NPR2_000176" "g.35802607G>A" "" "" "" "NPR2(NM_003995.3):c.1815+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997879" "0" "50" "9" "35805514" "35805514" "subst" "0" "01804" "NPR2_000177" "g.35805514G>A" "" "" "" "NPR2(NM_003995.3):c.1894G>A (p.(Ala632Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997880" "0" "50" "9" "35805878" "35805878" "subst" "0" "01804" "NPR2_000178" "g.35805878C>T" "" "" "" "NPR2(NM_003995.3):c.2099C>T (p.(Thr700Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997881" "0" "50" "9" "35805911" "35805911" "subst" "0" "02325" "NPR2_000156" "g.35805911G>A" "" "" "" "NPR2(NM_003995.4):c.2132G>A (p.G711E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997882" "0" "30" "9" "35807650" "35807650" "subst" "0" "02329" "NPR2_000179" "g.35807650C>G" "" "" "" "NPR2(NM_003995.4):c.2712+255C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997883" "0" "50" "9" "35808618" "35808618" "subst" "0" "01804" "HINT2_000030" "g.35808618C>A" "" "" "" "NPR2(NM_003995.3):c.2825C>A (p.(Ser942Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997884" "0" "30" "9" "35808651" "35808651" "subst" "1.2182E-5" "01804" "HINT2_000031" "g.35808651A>G" "" "" "" "NPR2(NM_003995.3):c.2858A>G (p.(Gln953Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997885" "0" "50" "9" "35808791" "35808791" "subst" "0" "01804" "HINT2_000022" "g.35808791G>A" "" "" "" "NPR2(NM_003995.3):c.2927G>A (p.(Arg976His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014544" "0" "30" "9" "35792469" "35792469" "subst" "0.0004128" "01804" "NPR2_000180" "g.35792469G>T" "" "" "" "NPR2(NM_003995.3):c.64G>T (p.(Ala22Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014545" "0" "50" "9" "35800140" "35800140" "subst" "0" "01804" "NPR2_000092" "g.35800140G>A" "" "" "" "NPR2(NM_003995.3):c.1109G>A (p.(Gly370Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014546" "0" "30" "9" "35800372" "35800372" "subst" "0" "01804" "NPR2_000181" "g.35800372C>T" "" "" "" "NPR2(NM_003995.3):c.1124-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014547" "0" "30" "9" "35802016" "35802016" "subst" "3.6625E-5" "01804" "NPR2_000182" "g.35802016G>C" "" "" "" "NPR2(NM_003995.3):c.1632+19G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014548" "0" "30" "9" "35805543" "35805543" "subst" "7.71505E-5" "02329" "NPR2_000183" "g.35805543G>A" "" "" "" "NPR2(NM_003995.4):c.1923G>A (p.S641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014549" "0" "50" "9" "35805595" "35805595" "subst" "0" "02327" "NPR2_000184" "g.35805595A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014550" "0" "30" "9" "35806450" "35806450" "subst" "0.000341131" "01804" "NPR2_000185" "g.35806450T>C" "" "" "" "NPR2(NM_003995.3):c.2434T>C (p.(Leu812=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014551" "0" "30" "9" "35806542" "35806542" "subst" "0" "01804" "NPR2_000186" "g.35806542C>T" "" "" "" "NPR2(NM_003995.3):c.2519+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014552" "0" "50" "9" "35808524" "35808524" "subst" "4.09527E-6" "01804" "HINT2_000032" "g.35808524G>A" "" "" "" "NPR2(NM_003995.3):c.2731G>A (p.(Ala911Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014553" "0" "50" "9" "35809233" "35809233" "subst" "0" "01804" "HINT2_000033" "g.35809233G>A" "" "" "" "NPR2(NM_003995.3):c.3067G>A (p.(Val1023Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020223" "3" "70" "9" "35805668" "35805668" "subst" "0" "04787" "NPR2_000187" "g.35805668G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.35805671G>A" "" "pathogenic (recessive)" "ACMG" "0001025674" "0" "30" "9" "35792645" "35792645" "subst" "4.06425E-6" "02329" "NPR2_000188" "g.35792645A>T" "" "" "" "NPR2(NM_003995.4):c.240A>T (p.A80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025675" "0" "50" "9" "35794065" "35794065" "subst" "1.21941E-5" "01804" "NPR2_000189" "g.35794065C>T" "" "" "" "NPR2(NM_003995.3):c.838C>T (p.(Arg280Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025676" "0" "50" "9" "35801087" "35801087" "subst" "2.03051E-5" "02325" "NPR2_000190" "g.35801087A>G" "" "" "" "NPR2(NM_003995.4):c.1372A>G (p.I458V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025677" "0" "50" "9" "35805592" "35805592" "subst" "0" "01804" "NPR2_000191" "g.35805592C>G" "" "" "" "NPR2(NM_003995.3):c.1972C>G (p.(Leu658Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025678" "0" "30" "9" "35806544" "35806544" "subst" "0.000434504" "02329" "NPR2_000144" "g.35806544T>C" "" "" "" "NPR2(NM_003995.3):c.2519+9T>C (p.(=)), NPR2(NM_003995.4):c.2519+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025679" "0" "50" "9" "35809195" "35809195" "subst" "0" "01804" "HINT2_000034" "g.35809195A>C" "" "" "" "NPR2(NM_003995.3):c.3029A>C (p.(Asp1010Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030890" "0" "50" "9" "35800070" "35800070" "subst" "0" "03779" "NPR2_000192" "g.35800070G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001037517" "0" "50" "9" "35792938" "35792938" "subst" "4.06382E-6" "01804" "NPR2_000193" "g.35792938G>A" "" "" "" "NPR2(NM_003995.3):c.533G>A (p.(Arg178Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037518" "0" "50" "9" "35793076" "35793076" "subst" "0" "01804" "NPR2_000194" "g.35793076A>G" "" "" "" "NPR2(NM_003995.4):c.667+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037519" "0" "50" "9" "35799668" "35799668" "subst" "0" "01804" "NPR2_000195" "g.35799668C>T" "" "" "" "NPR2(NM_003995.3):c.927C>T (p.(Phe309=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037520" "0" "50" "9" "35799699" "35799699" "subst" "0" "01804" "NPR2_000196" "g.35799699G>C" "" "" "" "NPR2(NM_003995.4):c.958G>C (p.(Asp320His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037521" "0" "50" "9" "35800119" "35800119" "subst" "4.06154E-5" "01804" "NPR2_000197" "g.35800119G>A" "" "" "" "NPR2(NM_003995.4):c.1088G>A (p.(Arg363Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037522" "0" "50" "9" "35801140" "35801140" "subst" "0" "01804" "NPR2_000198" "g.35801140C>G" "" "" "" "NPR2(NM_003995.4):c.1425C>G (p.(Phe475Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037523" "0" "50" "9" "35801636" "35801636" "subst" "8.12579E-6" "01804" "NPR2_000199" "g.35801636A>G" "" "" "" "NPR2(NM_001378923.1):c.1442A>G (p.(Tyr481Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037524" "0" "50" "9" "35805884" "35805884" "subst" "0.000239689" "01804" "NPR2_000200" "g.35805884T>A" "" "" "" "NPR2(NM_003995.4):c.2105T>A (p.(Met702Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037525" "0" "50" "9" "35806091" "35806091" "subst" "0" "01804" "NPR2_000201" "g.35806091C>T" "" "" "" "NPR2(NM_003995.4):c.2233C>T (p.(Arg745Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037526" "0" "70" "9" "35806184" "35806184" "subst" "8.12269E-6" "01804" "NPR2_000034" "g.35806184C>T" "" "" "" "NPR2(NM_003995.3):c.2326C>T (p.(Arg776Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037527" "0" "50" "9" "35807054" "35807054" "subst" "0" "01804" "NPR2_000202" "g.35807054G>T" "" "" "" "NPR2(NM_003995.3):c.2554G>T (p.(Val852Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037528" "0" "50" "9" "35807358" "35807358" "subst" "0" "01804" "NPR2_000203" "g.35807358G>C" "" "" "" "NPR2(NM_003995.4):c.2675G>C (p.(Cys892Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037529" "0" "50" "9" "35808594" "35808594" "subst" "0" "01804" "HINT2_000011" "g.35808594C>T" "" "" "" "NPR2(NM_003995.3):c.2801C>T (p.(Ala934Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046201" "0" "30" "9" "35793083" "35793083" "subst" "0" "01804" "NPR2_000204" "g.35793083C>T" "" "" "" "NPR2(NM_003995.3):c.667+11C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046202" "0" "30" "9" "35800366" "35800366" "subst" "4.06161E-5" "01804" "NPR2_000205" "g.35800366G>A" "" "" "" "NPR2(NM_003995.3):c.1124-20G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046203" "0" "50" "9" "35808588" "35808588" "subst" "3.25365E-5" "02325" "HINT2_000035" "g.35808588G>A" "" "" "" "NPR2(NM_003995.4):c.2795G>A (p.R932H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046204" "0" "30" "9" "35809141" "35809141" "subst" "2.0307E-5" "01804" "HINT2_000036" "g.35809141C>T" "" "" "" "NPR2(NM_003995.3):c.2987-12C>T (p.(=))" "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 NPR2 ## Count = 285 "{{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}}" "0000055941" "00014751" "70" "1352" "-1" "1352" "-1" "c.1352-1G>A" "r.spl" "p.?" "6i" "0000055942" "00014751" "70" "142" "0" "142" "0" "c.142G>T" "r.(?)" "p.(Ala48Ser)" "1" "0000055943" "00014751" "70" "1167" "0" "1167" "0" "c.1167G>T" "r.(?)" "p.(Glu389Asp)" "5" "0000055944" "00014751" "70" "1481" "0" "1481" "0" "c.1481T>G" "r.(?)" "p.(Ile494Ser)" "8" "0000055945" "00014751" "30" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Ala549Thr)" "10" "0000055946" "00014751" "50" "491" "0" "491" "0" "c.491C>G" "r.(?)" "p.(Ala164Gly)" "1" "0000055947" "00014751" "30" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Arg787Trp)" "15" "0000055948" "00014751" "30" "316" "0" "316" "0" "c.316G>T" "r.(?)" "p.(Ala106Ser)" "1" "0000055949" "00014751" "30" "1802" "0" "1802" "0" "c.1802G>C" "r.(?)" "p.(Arg601Pro)" "11" "0000055950" "00014751" "70" "2710" "0" "2710" "0" "c.2710A>T" "r.(?)" "p.(Lys904*)" "18" "0000055951" "00014751" "70" "1517" "0" "1517" "0" "c.1517G>A" "r.(?)" "p.(Arg506His)" "8" "0000055952" "00014751" "30" "739" "0" "739" "0" "c.739A>G" "r.(?)" "p.(Asn247Asp)" "2" "0000055953" "00014751" "70" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Arg562Gln)" "10" "0000055954" "00014751" "70" "2449" "0" "2449" "0" "c.2449G>A" "r.(?)" "p.(Glu817Lys)" "16" "0000055955" "00014751" "30" "2338" "0" "2338" "0" "c.2338G>A" "r.(?)" "p.(Gly780Arg)" "15" "0000055956" "00014751" "70" "1982" "0" "1982" "0" "c.1982C>A" "r.(?)" "p.(Thr661Lys)" "13" "0000060723" "00014751" "90" "94" "0" "94" "0" "c.94C>A" "r.(?)" "p.(Pro32Thr)" "1" "0000060765" "00014751" "90" "343" "0" "343" "0" "c.343T>G" "r.(?)" "p.(Trp115Gly)" "1" "0000060766" "00014751" "70" "528" "0" "528" "0" "c.528T>A" "r.(?)" "p.(Asp176Glu)" "1" "0000060768" "00014751" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Gln282*)" "2" "0000060769" "00014751" "70" "890" "0" "890" "0" "c.890C>T" "r.(?)" "p.(Thr297Met)" "3" "0000061113" "00014751" "90" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Tyr338Cys)" "4" "0000061114" "00014751" "90" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371*)" "4" "0000061116" "00014751" "90" "1225" "0" "1225" "0" "c.1225G>A" "r.(?)" "p.(Ala409Thr)" "6" "0000061121" "00014751" "90" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388*)" "5" "0000061122" "00014751" "90" "1314" "0" "1315" "0" "c.1314_1315del" "r.(?)" "p.(Ala440Leufs*2)" "6" "0000061462" "00014751" "90" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Gly413Glu)" "" "0000061463" "00014751" "90" "1295" "0" "1295" "0" "c.1295del" "r.(?)" "p.(Pro432Leufs*45)" "6" "0000061464" "00014751" "90" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Gln500*)" "8" "0000061465" "00014751" "70" "1887" "2" "1887" "2" "c.1887+2T>A" "r.spl" "p.?" "12i" "0000061466" "00014751" "90" "2123" "0" "2123" "0" "c.2123A>G" "r.(?)" "p.(Tyr708Cys)" "14" "0000061729" "00014751" "90" "2304" "0" "2307" "0" "c.2304_2307delinsCTGATGGA" "r.(?)" "p.(Trp769*)" "15" "0000061730" "00014751" "90" "2326" "0" "2326" "0" "c.2326C>T" "r.(?)" "p.(Arg776Trp)" "15" "0000061731" "00014751" "90" "2869" "0" "2869" "0" "c.2869C>T" "r.(?)" "p.(Arg957Cys)" "20" "0000061732" "00014751" "90" "2876" "0" "2876" "0" "c.2876G>C" "r.(?)" "p.(Gly959Ala)" "20" "0000061733" "00014751" "90" "1436" "1" "1436" "1" "c.1436+1G>T" "r.spl" "p.?" "7i" "0000061734" "00014751" "90" "3064" "0" "3064" "0" "c.3064del" "r.(?)" "p.(Asp1022Metfs*4)" "21" "0000061735" "00014751" "90" "1092" "0" "1092" "0" "c.1092del" "r.(?)" "p.(Ile364Metfs*13)" "4" "0000061736" "00014751" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Leu658Phe)" "13" "0000066262" "00014751" "90" "2720" "0" "2720" "0" "c.2720C>T" "r.(?)" "p.(Thr907Met)" "14" "0000066263" "00014751" "90" "2986" "2" "2986" "2" "c.2986+2T>G" "r.spl" "p.?" "20i" "0000066264" "00014751" "90" "1801" "0" "1801" "0" "c.1801C>A" "r.(?)" "p.(Arg601Ser)" "11" "0000066265" "00014751" "90" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Arg749Trp)" "15" "0000066266" "00014751" "90" "226" "0" "226" "0" "c.226T>C" "r.(?)" "p.(Ser76Pro)" "1" "0000066267" "00014751" "90" "788" "0" "788" "0" "c.788G>C" "r.(?)" "p.(Arg263Pro)" "2" "0000066268" "00014751" "90" "2455" "0" "2455" "0" "c.2455C>T" "r.(?)" "p.(Arg819Cys)" "16" "0000066781" "00014751" "90" "2647" "0" "2647" "0" "c.2647G>A" "r.(?)" "p.(Val883Met)" "18" "0000066782" "00014751" "90" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Arg655Cys)" "13" "0000066783" "00014751" "90" "1462" "0" "1462" "0" "c.1462G>C" "r.(?)" "p.(Ala488Pro)" "8" "0000066784" "00014751" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Cys)" "1" "0000066785" "00014751" "90" "1249" "0" "1249" "0" "c.1249C>G" "r.(?)" "p.(Gln417Glu)" "6" "0000175312" "00014751" "70" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Pro93Ser)" "1" "0000175313" "00014751" "70" "2966" "0" "2966" "0" "c.2966G>T" "r.(?)" "p.(Arg989Leu)" "20" "0000177873" "00014751" "90" "2720" "0" "2720" "0" "c.2720C>T" "r.(?)" "p.(Thr907Met)" "19" "0000177875" "00014751" "90" "2720" "0" "2720" "0" "c.2720C>T" "r.(?)" "p.(Thr907Met)" "19" "0000177876" "00014751" "90" "2720" "0" "2720" "0" "c.2720C>T" "r.(?)" "p.(Thr907Met)" "19" "0000177877" "00014751" "90" "2720" "0" "2720" "0" "c.2720C>T" "r.(?)" "p.(Thr907Met)" "19" "0000177880" "00014751" "30" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Val187Ile)" "1" "0000296605" "00014751" "10" "1794" "0" "1794" "0" "c.1794C>T" "r.(?)" "p.(Tyr598=)" "" "0000296606" "00014751" "10" "18" "0" "18" "0" "c.18T>C" "r.(?)" "p.(Leu6=)" "" "0000296607" "00014751" "10" "2712" "11" "2712" "19" "c.2712+11_2712+19del" "r.(=)" "p.(=)" "" "0000304507" "00014751" "50" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" "" "0000403898" "00014751" "90" "368" "0" "368" "0" "c.368G>T" "r.(?)" "p.(Gly123Val)" "" "0000403899" "00014751" "90" "1185" "0" "1185" "0" "c.1185G>A" "r.(?)" "p.(Trp395*)" "" "0000403901" "00014751" "90" "872" "0" "872" "0" "c.872A>G" "r.(?)" "p.(Gln291Arg)" "" "0000403902" "00014751" "90" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989*)" "" "0000403909" "00014751" "90" "2966" "0" "2966" "0" "c.2966G>T" "r.(?)" "p.(Arg989Leu)" "" "0000538137" "00014751" "50" "298" "0" "298" "0" "c.298G>C" "r.(?)" "p.(Gly100Arg)" "" "0000538138" "00014751" "50" "650" "0" "650" "0" "c.650T>C" "r.(?)" "p.(Ile217Thr)" "" "0000538139" "00014751" "30" "731" "0" "731" "0" "c.731A>C" "r.(?)" "p.(Asn244Thr)" "" "0000538140" "00014751" "50" "830" "0" "830" "0" "c.830A>G" "r.(?)" "p.(Asn277Ser)" "" "0000538141" "00014751" "30" "873" "13" "873" "13" "c.873+13C>A" "r.(=)" "p.(=)" "" "0000538142" "00014751" "70" "917" "0" "917" "0" "c.917A>G" "r.(?)" "p.(Tyr306Cys)" "" "0000538143" "00014751" "30" "999" "0" "999" "0" "c.999C>T" "r.(?)" "p.(Ile333=)" "" "0000538144" "00014751" "70" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Ala334Thr)" "" "0000538145" "00014751" "90" "1225" "0" "1225" "0" "c.1225G>A" "r.(?)" "p.(Ala409Thr)" "" "0000538146" "00014751" "50" "1262" "0" "1262" "0" "c.1262C>T" "r.(?)" "p.(Thr421Met)" "" "0000538147" "00014751" "30" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(Ala440=)" "" "0000538148" "00014751" "70" "1566" "0" "1567" "0" "c.1566_1567del" "r.(?)" "p.(Ser523LeufsTer32)" "" "0000538149" "00014751" "50" "1670" "0" "1670" "0" "c.1670G>A" "r.(?)" "p.(Arg557His)" "" "0000538151" "00014751" "50" "2032" "0" "2032" "0" "c.2032C>T" "r.(?)" "p.(His678Tyr)" "" "0000538152" "00014751" "30" "2047" "11" "2047" "11" "c.2047+11C>T" "r.(=)" "p.(=)" "" "0000538153" "00014751" "30" "2372" "18" "2372" "18" "c.2372+18G>A" "r.(=)" "p.(=)" "" "0000538154" "00014751" "50" "2453" "0" "2456" "0" "c.2453_2456del" "r.(?)" "p.(Glu818AlafsTer28)" "" "0000538155" "00014751" "90" "2720" "0" "2720" "0" "c.2720C>T" "r.(?)" "p.(Thr907Met)" "" "0000538156" "00014751" "50" "2839" "0" "2839" "0" "c.2839C>T" "r.(?)" "p.(Arg947Cys)" "" "0000538157" "00014751" "50" "2851" "0" "2851" "0" "c.2851C>G" "r.(?)" "p.(His951Asp)" "" "0000538158" "00014751" "30" "2986" "10" "2986" "10" "c.2986+10T>A" "r.(=)" "p.(=)" "" "0000538159" "00014751" "30" "3824" "0" "3824" "0" "c.*680C>T" "r.(=)" "p.(=)" "" "0000538160" "00014751" "30" "5147" "0" "5147" "0" "c.*2003C>T" "r.(=)" "p.(=)" "" "0000538161" "00014751" "30" "5399" "0" "5399" "0" "c.*2255C>T" "r.(=)" "p.(=)" "" "0000612114" "00014751" "30" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Val30=)" "" "0000612115" "00014751" "70" "239" "0" "239" "0" "c.239C>A" "r.(?)" "p.(Ala80Glu)" "" "0000612117" "00014751" "50" "2410" "0" "2410" "0" "c.2410C>T" "r.(?)" "p.(Arg804Cys)" "" "0000656357" "00014751" "90" "1225" "0" "1225" "0" "c.1225G>A" "r.(?)" "p.(Ala409Thr)" "" "0000678673" "00014751" "50" "244" "0" "244" "0" "c.244C>A" "r.(?)" "p.(Leu82Met)" "" "0000678674" "00014751" "50" "1795" "0" "1795" "0" "c.1795T>C" "r.(?)" "p.(Cys599Arg)" "" "0000678675" "00014751" "90" "1887" "2" "1887" "2" "c.1887+2T>A" "r.spl?" "p.?" "" "0000703843" "00014751" "70" "2455" "0" "2455" "0" "c.2455C>T" "r.(?)" "p.(Arg819Cys)" "" "0000703844" "00014751" "70" "2905" "0" "2905" "0" "c.2905G>C" "r.(?)" "p.(Val969Leu)" "" "0000703845" "00014751" "70" "226" "0" "226" "0" "c.226T>C" "r.(?)" "p.(Ser76Pro)" "" "0000722522" "00014751" "50" "140" "0" "140" "0" "c.140C>G" "r.(?)" "p.(Pro47Arg)" "" "0000722523" "00014751" "30" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Pro81=)" "" "0000722524" "00014751" "50" "830" "0" "830" "0" "c.830A>G" "r.(?)" "p.(Asn277Ser)" "" "0000722525" "00014751" "70" "1218" "2" "1218" "2" "c.1218+2T>A" "r.spl?" "p.?" "" "0000722526" "00014751" "50" "1557" "5" "1557" "5" "c.1557+5G>A" "r.spl?" "p.?" "" "0000722527" "00014751" "30" "1815" "7" "1815" "7" "c.1815+7G>A" "r.(=)" "p.(=)" "" "0000730030" "00014751" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Gln282*)" "" "0000804123" "00014751" "50" "239" "0" "239" "0" "c.239C>A" "r.(?)" "p.(Ala80Glu)" "" "0000804124" "00014751" "70" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299*)" "" "0000804125" "00014751" "50" "1109" "0" "1109" "0" "c.1109G>A" "r.(?)" "p.(Gly370Glu)" "" "0000804126" "00014751" "70" "1963" "0" "1963" "0" "c.1963C>A" "r.(?)" "p.(Arg655Ser)" "" "0000804127" "00014751" "30" "3145" "0" "3145" "0" "c.*1A>G" "r.(=)" "p.(=)" "" "0000841421" "00014751" "50" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493His)" "" "0000842549" "00014751" "90" "2845" "0" "2845" "0" "c.2845C>T" "r.(?)" "p.(Arg949Ter)" "" "0000842550" "00014751" "70" "2845" "0" "2845" "0" "c.2845C>T" "r.(?)" "p.(Arg949Ter)" "" "0000852277" "00014751" "30" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Leu117Phe)" "" "0000852278" "00014751" "30" "3087" "0" "3087" "0" "c.3087A>C" "r.(?)" "p.(Gly1029=)" "" "0000861646" "00014751" "90" "109" "0" "119" "0" "c.109_119del" "r.(?)" "p.(Ser37Glyfs*37)" "" "0000861647" "00014751" "50" "224" "0" "224" "0" "c.224G>T" "r.(?)" "p.(Cys75Phe)" "" "0000861648" "00014751" "30" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Gly143=)" "" "0000861649" "00014751" "50" "491" "0" "491" "0" "c.491C>G" "r.(?)" "p.(Ala164Gly)" "" "0000861650" "00014751" "50" "502" "0" "502" "0" "c.502T>G" "r.(?)" "p.(Leu168Val)" "" "0000861651" "00014751" "30" "667" "13" "667" "13" "c.667+13T>C" "r.(=)" "p.(=)" "" "0000861652" "00014751" "30" "668" "-4" "668" "-4" "c.668-4C>A" "r.spl?" "p.?" "" "0000861653" "00014751" "30" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Leu233=)" "" "0000861654" "00014751" "50" "828" "0" "828" "0" "c.828C>G" "r.(?)" "p.(Asp276Glu)" "" "0000861655" "00014751" "30" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Arg280Gln)" "" "0000861656" "00014751" "50" "873" "1" "873" "1" "c.873+1G>T" "r.spl?" "p.?" "" "0000861657" "00014751" "50" "949" "0" "949" "0" "c.949G>T" "r.(?)" "p.(Ala317Ser)" "" "0000861658" "00014751" "50" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371Gln)" "" "0000861659" "00014751" "50" "1351" "10" "1351" "10" "c.1351+10T>C" "r.(=)" "p.(=)" "" "0000861660" "00014751" "50" "1484" "0" "1484" "0" "c.1484G>A" "r.(?)" "p.(Arg495His)" "" "0000861661" "00014751" "90" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Gln500*)" "" "0000861662" "00014751" "30" "1542" "0" "1542" "0" "c.1542C>T" "r.(?)" "p.(Arg514=)" "" "0000861663" "00014751" "50" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Gly541Ser)" "" "0000861664" "00014751" "30" "1629" "0" "1629" "0" "c.1629C>T" "r.(?)" "p.(Phe543=)" "" "0000861665" "00014751" "50" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Ala549Thr)" "" "0000861666" "00014751" "30" "1710" "16" "1710" "19" "c.1710+16_1710+19dup" "r.(=)" "p.(=)" "" "0000861667" "00014751" "30" "1711" "-8" "1711" "-8" "c.1711-8del" "r.(=)" "p.(=)" "" "0000861668" "00014751" "30" "1815" "14" "1815" "14" "c.1815+14G>A" "r.(=)" "p.(=)" "" "0000861669" "00014751" "30" "1815" "15" "1815" "15" "c.1815+15T>C" "r.(=)" "p.(=)" "" "0000861670" "00014751" "50" "2038" "0" "2038" "0" "c.2038C>T" "r.(?)" "p.(Leu680Phe)" "" "0000861671" "00014751" "50" "2195" "0" "2195" "0" "c.2195G>C" "r.(?)" "p.(Ser732Thr)" "" "0000861672" "00014751" "90" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Arg741Ter)" "" "0000861673" "00014751" "50" "2260" "0" "2260" "0" "c.2260C>T" "r.(?)" "p.(Arg754Trp)" "" "0000861674" "00014751" "50" "2586" "0" "2586" "0" "c.2586C>G" "r.(?)" "p.(Ile862Met)" "" "0000861675" "00014751" "30" "2644" "-11" "2644" "-11" "c.2644-11A>G" "r.(=)" "p.(=)" "" "0000861676" "00014751" "50" "2678" "0" "2678" "0" "c.2678T>C" "r.(?)" "p.(Phe893Ser)" "" "0000861677" "00014751" "70" "2707" "0" "2707" "0" "c.2707T>C" "r.(?)" "p.(Tyr903His)" "" "0000861678" "00014751" "30" "2712" "15" "2712" "15" "c.2712+15C>T" "r.(=)" "p.(=)" "" "0000861679" "00014751" "30" "2712" "19" "2712" "19" "c.2712+19G>A" "r.(=)" "p.(=)" "" "0000861680" "00014751" "30" "2713" "-11" "2713" "-11" "c.2713-11C>T" "r.(=)" "p.(=)" "" "0000861681" "00014751" "50" "2779" "0" "2779" "0" "c.2779G>A" "r.(?)" "p.(Ala927Thr)" "" "0000861682" "00014751" "50" "2794" "0" "2794" "0" "c.2794C>T" "r.(?)" "p.(Arg932Cys)" "" "0000861683" "00014751" "50" "2801" "0" "2801" "0" "c.2801C>T" "r.(?)" "p.(Ala934Val)" "" "0000861684" "00014751" "50" "2869" "0" "2869" "0" "c.2869C>T" "r.(?)" "p.(Arg957Cys)" "" "0000861685" "00014751" "50" "2895" "0" "2895" "0" "c.2895C>A" "r.(?)" "p.(Val965=)" "" "0000861686" "00014751" "30" "2898" "0" "2898" "0" "c.2898T>C" "r.(?)" "p.(Cys966=)" "" "0000861687" "00014751" "30" "2986" "13" "2986" "13" "c.2986+13C>T" "r.(=)" "p.(=)" "" "0000861688" "00014751" "50" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Asp1022Asn)" "" "0000861689" "00014751" "30" "3219" "0" "3219" "0" "c.*75C>T" "r.(=)" "p.(=)" "" "0000878328" "00014751" "50" "1190" "0" "1190" "0" "c.1190T>G" "r.(?)" "p.(Met397Arg)" "" "0000881285" "00014751" "70" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Pro689Ser)" "" "0000888837" "00014751" "50" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" "" "0000888838" "00014751" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Ser69=)" "" "0000888839" "00014751" "30" "288" "0" "288" "0" "c.288G>A" "r.(?)" "p.(Leu96=)" "" "0000888840" "00014751" "50" "674" "0" "674" "0" "c.674A>G" "r.(?)" "p.(Tyr225Cys)" "" "0000888841" "00014751" "30" "855" "0" "855" "0" "c.855C>G" "r.(?)" "p.(Ala285=)" "" "0000888842" "00014751" "50" "987" "0" "987" "0" "c.987G>C" "r.(?)" "p.(Leu329=)" "" "0000888843" "00014751" "50" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Gly361Arg)" "" "0000888844" "00014751" "30" "1626" "0" "1626" "0" "c.1626C>G" "r.(?)" "p.(His542Gln)" "" "0000888845" "00014751" "30" "1887" "19" "1887" "19" "c.1887+19T>C" "r.(=)" "p.(=)" "" "0000888846" "00014751" "50" "1931" "0" "1931" "0" "c.1931G>A" "r.(?)" "p.(Ser644Asn)" "" "0000888847" "00014751" "50" "2150" "0" "2150" "0" "c.2150T>C" "r.(?)" "p.(Ile717Thr)" "" "0000888848" "00014751" "50" "2455" "0" "2455" "0" "c.2455C>T" "r.(?)" "p.(Arg819Cys)" "" "0000888849" "00014751" "50" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Val882Ile)" "" "0000888850" "00014751" "50" "2839" "0" "2839" "0" "c.2839C>T" "r.(?)" "p.(Arg947Cys)" "" "0000888851" "00014751" "50" "2893" "0" "2893" "0" "c.2893G>T" "r.(?)" "p.(Val965Phe)" "" "0000888852" "00014751" "50" "2893" "0" "2893" "0" "c.2893G>T" "r.(?)" "p.(Val965Phe)" "" "0000888853" "00014751" "50" "3058" "0" "3058" "0" "c.3058C>T" "r.(?)" "p.(Arg1020Trp)" "" "0000888854" "00014751" "30" "3087" "0" "3087" "0" "c.3087A>C" "r.(?)" "p.(Gly1029=)" "" "0000888855" "00014751" "50" "3131" "0" "3131" "0" "c.3131C>T" "r.(?)" "p.(Pro1044Leu)" "" "0000888856" "00014751" "50" "3154" "0" "3154" "0" "c.*10C>A" "r.(=)" "p.(=)" "" "0000913157" "00014751" "50" "1689" "0" "1689" "0" "c.1689G>C" "r.(?)" "p.(Gln563His)" "" "0000913158" "00014751" "50" "1922" "0" "1922" "0" "c.1922C>T" "r.(?)" "p.(Ser641Leu)" "" "0000913159" "00014751" "50" "1952" "0" "1952" "0" "c.1952T>G" "r.(?)" "p.(Val651Gly)" "" "0000913160" "00014751" "30" "2519" "9" "2519" "9" "c.2519+9T>C" "r.(=)" "p.(=)" "" "0000913161" "00014751" "50" "2927" "0" "2927" "0" "c.2927G>A" "r.(?)" "p.(Arg976His)" "" "0000925045" "00014751" "50" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Arg137His)" "" "0000925046" "00014751" "50" "650" "0" "650" "0" "c.650T>C" "r.(?)" "p.(Ile217Thr)" "" "0000925047" "00014751" "30" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Leu233=)" "" "0000925048" "00014751" "50" "758" "0" "758" "0" "c.758T>G" "r.(?)" "p.(Phe253Cys)" "" "0000925049" "00014751" "30" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Leu761=)" "" "0000925050" "00014751" "50" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Arg787Trp)" "" "0000925051" "00014751" "50" "3073" "0" "3073" "0" "c.3073A>G" "r.(?)" "p.(Met1025Val)" "" "0000929609" "00014751" "30" "668" "-20" "668" "-20" "c.668-20T>C" "r.(=)" "p.(=)" "" "0000929610" "00014751" "30" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(=)" "" "0000929611" "00014751" "50" "1942" "0" "1942" "0" "c.1942T>G" "r.(?)" "p.(Ser648Ala)" "" "0000929612" "00014751" "50" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Asp858Asn)" "" "0000929613" "00014751" "30" "2715" "0" "2715" "0" "c.2715G>A" "r.(?)" "p.(=)" "" "0000929615" "00014751" "30" "5294" "0" "5294" "0" "c.*2150A>G" "r.(=)" "p.(=)" "" "0000929616" "00014751" "30" "5581" "0" "5581" "0" "c.*2437G>A" "r.(=)" "p.(=)" "" "0000949293" "00014751" "70" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Gly123Asp)" "" "0000949294" "00014751" "50" "731" "0" "731" "0" "c.731A>C" "r.(?)" "p.(Asn244Thr)" "" "0000949295" "00014751" "30" "1176" "0" "1176" "0" "c.1176T>C" "r.(?)" "p.(=)" "" "0000949296" "00014751" "50" "1313" "0" "1313" "0" "c.1313C>T" "r.(?)" "p.(Pro438Leu)" "" "0000949297" "00014751" "50" "1988" "0" "1988" "0" "c.1988A>G" "r.(?)" "p.(Tyr663Cys)" "" "0000949298" "00014751" "10" "2047" "11" "2047" "11" "c.2047+11C>T" "r.(=)" "p.(=)" "" "0000949299" "00014751" "50" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Gly711Glu)" "" "0000965420" "00014751" "10" "873" "13" "873" "13" "c.873+13C>A" "r.(=)" "p.(=)" "" "0000965421" "00014751" "30" "1123" "5" "1123" "5" "c.1123+5T>A" "r.spl?" "p.?" "" "0000965422" "00014751" "90" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Arg479*)" "" "0000965423" "00014751" "90" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Gln500*)" "" "0000965424" "00014751" "30" "1816" "-8" "1816" "-8" "c.1816-8C>T" "r.(=)" "p.(=)" "" "0000965425" "00014751" "30" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(=)" "" "0000965426" "00014751" "50" "1942" "0" "1942" "0" "c.1942T>G" "r.(?)" "p.(Ser648Ala)" "" "0000965427" "00014751" "30" "2048" "-16" "2048" "-16" "c.2048-16G>A" "r.(=)" "p.(=)" "" "0000965428" "00014751" "30" "2520" "-185" "2520" "-185" "c.2520-185C>T" "r.(=)" "p.(=)" "" "0000965429" "00014751" "50" "2611" "0" "2611" "0" "c.2611A>C" "r.(?)" "p.(Thr871Pro)" "" "0000965430" "00014751" "90" "2761" "0" "2761" "0" "c.2761C>T" "r.(?)" "p.(Arg921*)" "" "0000965431" "00014751" "50" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Arg925Cys)" "" "0000965432" "00014751" "50" "2794" "0" "2794" "0" "c.2794C>T" "r.(?)" "p.(Arg932Cys)" "" "0000978700" "00014751" "30" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Val30=)" "" "0000978701" "00014751" "50" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242Lys)" "" "0000978702" "00014751" "70" "988" "-1" "988" "-1" "c.988-1G>C" "r.spl?" "p.?" "" "0000978703" "00014751" "30" "1332" "0" "1332" "0" "c.1332C>T" "r.(?)" "p.(=)" "" "0000978704" "00014751" "50" "1517" "0" "1517" "0" "c.1517G>A" "r.(?)" "p.(Arg506His)" "" "0000978705" "00014751" "90" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Arg655Cys)" "" "0000978706" "00014751" "30" "2118" "0" "2118" "0" "c.2118C>T" "r.(?)" "p.(=)" "" "0000978707" "00014751" "50" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Asp858Asn)" "" "0000978708" "00014751" "50" "2686" "0" "2686" "0" "c.2686A>G" "r.(?)" "p.(Ile896Val)" "" "0000978709" "00014751" "30" "3212" "0" "3212" "0" "c.*68C>G" "r.(=)" "p.(=)" "" "0000997869" "00014751" "70" "779" "0" "779" "0" "c.779dup" "r.(?)" "p.(Ser261Glufs*45)" "" "0000997870" "00014751" "50" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" "" "0000997871" "00014751" "30" "863" "0" "863" "0" "c.863A>C" "r.(?)" "p.(Glu288Ala)" "" "0000997872" "00014751" "50" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000997873" "00014751" "90" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388*)" "" "0000997874" "00014751" "50" "1218" "4" "1218" "4" "c.1218+4A>G" "r.spl?" "p.?" "" "0000997875" "00014751" "30" "1485" "0" "1485" "0" "c.1485C>G" "r.(?)" "p.(=)" "" "0000997876" "00014751" "70" "1516" "0" "1516" "0" "c.1516C>A" "r.(?)" "p.(Arg506Ser)" "" "0000997877" "00014751" "50" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514Cys)" "" "0000997878" "00014751" "30" "1815" "3" "1815" "3" "c.1815+3G>A" "r.spl?" "p.?" "" "0000997879" "00014751" "50" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Ala632Thr)" "" "0000997880" "00014751" "50" "2099" "0" "2099" "0" "c.2099C>T" "r.(?)" "p.(Thr700Ile)" "" "0000997881" "00014751" "50" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Gly711Glu)" "" "0000997882" "00014751" "30" "2712" "255" "2712" "255" "c.2712+255C>G" "r.(=)" "p.(=)" "" "0000997883" "00014751" "50" "2825" "0" "2825" "0" "c.2825C>A" "r.(?)" "p.(Ser942Tyr)" "" "0000997884" "00014751" "30" "2858" "0" "2858" "0" "c.2858A>G" "r.(?)" "p.(Gln953Arg)" "" "0000997885" "00014751" "50" "2927" "0" "2927" "0" "c.2927G>A" "r.(?)" "p.(Arg976His)" "" "0001014544" "00014751" "30" "64" "0" "64" "0" "c.64G>T" "r.(?)" "p.(Ala22Ser)" "" "0001014545" "00014751" "50" "1109" "0" "1109" "0" "c.1109G>A" "r.(?)" "p.(Gly370Glu)" "" "0001014546" "00014751" "30" "1124" "-14" "1124" "-14" "c.1124-14C>T" "r.(=)" "p.(=)" "" "0001014547" "00014751" "30" "1632" "19" "1632" "19" "c.1632+19G>C" "r.(=)" "p.(=)" "" "0001014548" "00014751" "30" "1923" "0" "1923" "0" "c.1923G>A" "r.(?)" "p.(=)" "" "0001014549" "00014751" "50" "1975" "0" "1975" "0" "c.1975A>T" "r.(?)" "p.(Lys659*)" "" "0001014550" "00014751" "30" "2434" "0" "2434" "0" "c.2434T>C" "r.(?)" "p.(=)" "" "0001014551" "00014751" "30" "2519" "7" "2519" "7" "c.2519+7C>T" "r.(=)" "p.(=)" "" "0001014552" "00014751" "50" "2731" "0" "2731" "0" "c.2731G>A" "r.(?)" "p.(Ala911Thr)" "" "0001014553" "00014751" "50" "3067" "0" "3067" "0" "c.3067G>A" "r.(?)" "p.(Val1023Met)" "" "0001020223" "00014751" "70" "2047" "1" "2047" "1" "c.2047+1G>A" "r.spl" "p.0?" "13" "0001025674" "00014751" "30" "240" "0" "240" "0" "c.240A>T" "r.(?)" "p.(=)" "" "0001025675" "00014751" "50" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Arg280Trp)" "" "0001025676" "00014751" "50" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "0001025677" "00014751" "50" "1972" "0" "1972" "0" "c.1972C>G" "r.(?)" "p.(Leu658Val)" "" "0001025678" "00014751" "30" "2519" "9" "2519" "9" "c.2519+9T>C" "r.(=)" "p.(=)" "" "0001025679" "00014751" "50" "3029" "0" "3029" "0" "c.3029A>C" "r.(?)" "p.(Asp1010Ala)" "" "0001030890" "00014751" "50" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Val347Ile)" "" "0001037517" "00014751" "50" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178Gln)" "" "0001037518" "00014751" "50" "667" "4" "667" "4" "c.667+4A>G" "r.spl?" "p.?" "" "0001037519" "00014751" "50" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(=)" "" "0001037520" "00014751" "50" "958" "0" "958" "0" "c.958G>C" "r.(?)" "p.(Asp320His)" "" "0001037521" "00014751" "50" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Arg363Gln)" "" "0001037522" "00014751" "50" "1425" "0" "1425" "0" "c.1425C>G" "r.(?)" "p.(Phe475Leu)" "" "0001037523" "00014751" "50" "1437" "-4" "1437" "-4" "c.1437-4A>G" "r.spl?" "p.?" "" "0001037524" "00014751" "50" "2105" "0" "2105" "0" "c.2105T>A" "r.(?)" "p.(Met702Lys)" "" "0001037525" "00014751" "50" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(Arg745Trp)" "" "0001037526" "00014751" "70" "2326" "0" "2326" "0" "c.2326C>T" "r.(?)" "p.(Arg776Trp)" "" "0001037527" "00014751" "50" "2554" "0" "2554" "0" "c.2554G>T" "r.(?)" "p.(Val852Leu)" "" "0001037528" "00014751" "50" "2675" "0" "2675" "0" "c.2675G>C" "r.(?)" "p.(Cys892Ser)" "" "0001037529" "00014751" "50" "2801" "0" "2801" "0" "c.2801C>T" "r.(?)" "p.(Ala934Val)" "" "0001046201" "00014751" "30" "667" "11" "667" "11" "c.667+11C>T" "r.(=)" "p.(=)" "" "0001046202" "00014751" "30" "1124" "-20" "1124" "-20" "c.1124-20G>A" "r.(=)" "p.(=)" "" "0001046203" "00014751" "50" "2795" "0" "2795" "0" "c.2795G>A" "r.(?)" "p.(Arg932His)" "" "0001046204" "00014751" "30" "2987" "-12" "2987" "-12" "c.2987-12C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{variantid}}" "0000029721" "0000055941" "0000029849" "0000055942" "0000029850" "0000055943" "0000029851" "0000055944" "0000029852" "0000055945" "0000029853" "0000055946" "0000029854" "0000055947" "0000029855" "0000055948" "0000029856" "0000055949" "0000029857" "0000055950" "0000029858" "0000055951" "0000029859" "0000055952" "0000029860" "0000055953" "0000029861" "0000055954" "0000029862" "0000055955" "0000029863" "0000055956" "0000033880" "0000060723" "0000033916" "0000060765" "0000033917" "0000060766" "0000033917" "0000061121" "0000033919" "0000060768" "0000033920" "0000060769" "0000034105" "0000061113" "0000034106" "0000061114" "0000034106" "0000061122" "0000034108" "0000061116" "0000034448" "0000061462" "0000034449" "0000061463" "0000034450" "0000061464" "0000034451" "0000061465" "0000034452" "0000061466" "0000034613" "0000061729" "0000034614" "0000061730" "0000034615" "0000061731" "0000034616" "0000061732" "0000034616" "0000061733" "0000034617" "0000061734" "0000034618" "0000061735" "0000034619" "0000061736" "0000038608" "0000066262" "0000038609" "0000066263" "0000038610" "0000066264" "0000038611" "0000066265" "0000038612" "0000066266" "0000038613" "0000066267" "0000038614" "0000066268" "0000038954" "0000066781" "0000038955" "0000066782" "0000038956" "0000066783" "0000038957" "0000066784" "0000038958" "0000066785" "0000109209" "0000175312" "0000109209" "0000175313" "0000110892" "0000177875" "0000110893" "0000177873" "0000110894" "0000177876" "0000110895" "0000177877" "0000110898" "0000177880" "0000180415" "0000403898" "0000180416" "0000403899" "0000180417" "0000403901" "0000180419" "0000403902" "0000180419" "0000403909" "0000332748" "0000730030" "0000420926" "0000881285" "0000461116" "0001020223"