### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WNK1) # 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}}" "WNK1" "WNK lysine deficient protein kinase 1" "12" "p13.3" "unknown" "NG_007984.3" "UD_132084407319" "" "https://www.LOVD.nl/WNK1" "" "1" "14540" "65125" "605232" "1" "1" "1" "1" "This database is one of the gene variant databases from the:.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/WNK1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2019-01-19 16:56:17" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00022847" "WNK1" "transcript variant 1" "003" "NM_018979.3" "" "NP_061852.3" "" "" "" "-643" "9809" "7149" "862089" "1020618" "" "0000-00-00 00:00:00" "" "" "00025466" "WNK1" "transcript variant 3" "011" "NM_213655.4" "" "NP_998820.3" "" "" "" "-643" "10565" "7905" "862089" "1020618" "00006" "2019-09-30 11:56:17" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01622" "HSAN2A" "neuropathy, sensory and autonomic, hereditary, type IIA (HSAN-2A)" "AR" "201300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03666" "PHA2C" "pseudohypoaldosteronism type 2C (PHA-2C)" "AD" "614492" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "WNK1" "01622" "WNK1" "03666" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{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}}" "00037409" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037410" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037411" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037412" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037413" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037414" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037415" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037416" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037417" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037418" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037419" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037420" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037421" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037422" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037423" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037424" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037425" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037426" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037427" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037428" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037429" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037430" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00151961" "" "" "" "1" "" "00006" "{PMID:Shekarabi 2008:18521183}" "" "" "" "" "" "0" "" "" "" "" "00151962" "" "" "" "1" "" "00006" "{PMID:Greenman 2007:17344846}" "" "" "" "" "" "0" "" "" "" "" "00151963" "" "" "" "1" "" "00006" "{PMID:Webb 2006:17000706}" "" "" "" "" "" "0" "" "" "" "" "00265669" "" "" "" "1" "" "00006" "{PMID:Monies 2016:27671536}" "759-gene panel analysis 50 patients suspected of LGMD" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam26 / 11R-00232" "00290821" "" "" "" "144" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290822" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290825" "" "" "" "263" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304388" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304390" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00438623" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0098" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00151961" "05384" "00151962" "00198" "00151963" "00198" "00265669" "05126" "00290821" "00198" "00290822" "00198" "00290825" "00198" "00304388" "00198" "00304390" "00198" "00438623" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01622, 03666, 05126, 05384, 06906 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000124324" "05384" "00151961" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuropathy, hereditary sensory, type II" "" "0000124325" "00198" "00151962" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "potential protein deficiency" "" "0000124326" "00198" "00151963" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "colorectal cancer, increased risk, assoc. with" "" "0000203456" "05126" "00265669" "00006" "Familial" "9y" "LGMD, calf muscles hypertrophy; elevated CK (1380 U/l); biopsy Muscular dystrophy, normal IHC" "" "" "" "" "" "" "" "" "" "LGMD" "" "0000328526" "06906" "00438623" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037479" "00037409" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037480" "00037410" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037481" "00037411" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037482" "00037412" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037483" "00037413" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037484" "00037414" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037485" "00037415" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037486" "00037416" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037487" "00037417" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037488" "00037418" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037489" "00037419" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037490" "00037420" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037491" "00037421" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037492" "00037422" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037493" "00037423" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037494" "00037424" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037495" "00037425" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037496" "00037426" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037497" "00037427" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037498" "00037428" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037499" "00037429" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037500" "00037430" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000152818" "00151961" "1" "00006" "00006" "2012-11-07 13:43:07" "" "" "SEQ" "DNA" "" "" "0000152819" "00151962" "1" "00006" "00006" "2012-11-07 13:43:07" "" "" "SEQ" "DNA" "" "" "0000152820" "00151963" "1" "00006" "00006" "2012-11-07 13:43:07" "" "" "SEQ" "DNA" "" "" "0000266792" "00265669" "1" "00006" "00006" "2019-09-30 11:53:15" "" "" "SEQ;SEQ-NG" "DNA" "" "759-gene panel neurological disorders" "0000291989" "00290821" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291990" "00290822" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291993" "00290825" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305517" "00304388" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305519" "00304390" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000440105" "00438623" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000037479" "WNK1" "0000037480" "WNK1" "0000037481" "WNK1" "0000037482" "WNK1" "0000037483" "WNK1" "0000037484" "WNK1" "0000037485" "WNK1" "0000037486" "WNK1" "0000037487" "WNK1" "0000037488" "WNK1" "0000037489" "WNK1" "0000037490" "WNK1" "0000037491" "WNK1" "0000037492" "WNK1" "0000037493" "WNK1" "0000037494" "WNK1" "0000037495" "WNK1" "0000037496" "WNK1" "0000037497" "WNK1" "0000037498" "WNK1" "0000037499" "WNK1" "0000037500" "WNK1" "0000152818" "WNK1" "0000152819" "WNK1" "0000152820" "WNK1" "0000266792" "WNK1" ## 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 = 227 "{{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}}" "0000064604" "1" "50" "12" "1006885" "1006885" "subst" "0.00112364" "01164" "WNK1_000004" "g.1006885A>G" "" "" "" "" "" "Germline" "" "rs181086146" "0" "" "" "g.897719A>G" "" "VUS" "" "0000064605" "1" "10" "12" "863506" "863508" "dup" "0" "01164" "WNK1_000017" "g.863506_863508dup" "" "" "" "" "" "Germline" "" "rs72647375" "0" "" "" "g.754340_754342dup" "" "benign" "" "0000064606" "1" "10" "12" "1017197" "1017197" "subst" "0.997003" "01164" "WNK1_000005" "g.1017197C>T" "" "" "" "" "" "Germline" "" "rs4766334" "0" "" "" "g.908031C>T" "" "benign" "" "0000064607" "1" "10" "12" "939302" "939302" "subst" "0.74959" "01164" "WNK1_000020" "g.939302A>G" "" "" "" "" "" "Germline" "" "rs10774466" "0" "" "" "g.830136A>G" "" "benign" "" "0000064608" "1" "10" "12" "1005162" "1005162" "subst" "0" "01164" "WNK1_000025" "g.1005162T>C" "" "" "" "" "" "Germline" "" "rs35956200" "0" "" "" "g.895996T>C" "" "benign" "" "0000064609" "1" "10" "12" "991009" "991009" "subst" "0" "01164" "WNK1_000009" "g.991009C>T" "" "" "" "" "" "Germline" "" "rs7953912" "0" "" "" "g.881843C>T" "" "benign" "" "0000064610" "1" "10" "12" "971291" "971291" "subst" "0.0659756" "01164" "WNK1_000021" "g.971291C>T" "" "" "" "" "" "Germline" "" "rs2286007" "0" "" "" "g.862125C>T" "" "benign" "" "0000064611" "1" "10" "12" "1003837" "1003837" "subst" "0.235909" "01164" "WNK1_000024" "g.1003837C>T" "" "" "" "" "" "Germline" "" "rs2301880" "0" "" "" "g.894671C>T" "" "benign" "" "0000064612" "1" "50" "12" "1017928" "1017928" "subst" "4.46842E-5" "01164" "WNK1_000006" "g.1017928C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.908762C>T" "" "VUS" "" "0000064613" "1" "10" "12" "863517" "863517" "subst" "0.682014" "01164" "WNK1_000018" "g.863517G>A" "" "" "" "" "" "Germline" "" "rs3858703" "0" "" "" "g.754351G>A" "" "benign" "" "0000064614" "1" "10" "12" "994014" "994014" "subst" "0.156389" "01164" "WNK1_000012" "g.994014C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.884848C>T" "" "benign" "" "0000064615" "1" "10" "12" "988894" "988894" "subst" "0.157211" "01164" "WNK1_000007" "g.988894G>A" "" "" "" "" "" "Germline" "" "rs9804992" "0" "" "" "g.879728G>A" "" "benign" "" "0000064616" "1" "10" "12" "998365" "998365" "subst" "0.370265" "01164" "WNK1_000023" "g.998365G>T" "" "" "" "" "" "Germline" "" "rs12828016" "0" "" "" "g.889199G>T" "" "benign" "" "0000064617" "1" "10" "12" "936468" "936468" "subst" "0.750568" "01164" "WNK1_000019" "g.936468C>G" "" "" "" "" "" "Germline" "" "rs2158502" "0" "" "" "g.827302C>G" "" "benign" "" "0000064618" "1" "10" "12" "987482" "987482" "subst" "0.738518" "01164" "WNK1_000022" "g.987482G>A" "" "" "" "" "" "Germline" "" "rs1012729" "0" "" "" "g.878316G>A" "" "benign" "" "0000064619" "1" "10" "12" "995299" "995299" "dup" "0" "01164" "WNK1_000014" "g.995299dup" "" "" "" "" "" "Germline" "" "rs141579782" "0" "" "" "g.886133dup" "" "benign" "" "0000064620" "1" "10" "12" "862989" "862989" "subst" "0.994246" "01164" "WNK1_000016" "g.862989T>C" "" "" "" "" "" "Germline" "" "rs3168640" "0" "" "" "g.753823T>C" "" "benign" "" "0000064621" "1" "10" "12" "990912" "990912" "subst" "0.831744" "01164" "WNK1_000008" "g.990912A>C" "" "" "" "" "" "Germline" "" "rs956868" "0" "" "" "g.881746A>C" "" "benign" "" "0000064622" "1" "10" "12" "992229" "992229" "subst" "0.116826" "01164" "WNK1_000010" "g.992229C>T" "" "" "" "" "" "Germline" "" "rs34032084" "0" "" "" "g.883063C>T" "" "benign" "" "0000064623" "1" "10" "12" "993930" "993930" "subst" "0.420536" "01164" "WNK1_000011" "g.993930C>T" "" "" "" "" "" "Germline" "" "rs7300444" "0" "" "" "g.884764C>T" "" "benign" "" "0000064624" "1" "10" "12" "994487" "994487" "subst" "0.996929" "01164" "WNK1_000013" "g.994487G>C" "" "" "" "" "" "Germline" "" "rs7955371" "0" "" "" "g.885321G>C" "" "benign" "" "0000064625" "1" "10" "12" "996357" "996357" "subst" "0.117581" "01164" "WNK1_000015" "g.996357C>T" "" "" "" "" "" "Germline" "" "rs56375346" "0" "" "" "g.887191C>T" "" "benign" "" "0000247094" "0" "10" "12" "939302" "939302" "subst" "0.74959" "02330" "WNK1_000020" "g.939302A>G" "" "" "" "WNK1(NM_001184985.2):c.1287A>G (p.A429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.830136A>G" "" "benign" "" "0000247098" "0" "10" "12" "990912" "990912" "subst" "0.831744" "02330" "WNK1_000008" "g.990912A>C" "" "" "" "WNK1(NM_001184985.2):c.3946A>C (p.T1316P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.881746A>C" "" "benign" "" "0000247124" "0" "10" "12" "990084" "990084" "subst" "0" "02330" "WNK1_000045" "g.990084A>T" "" "" "" "WNK1(NM_001184985.2):c.3810A>T (p.V1270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.880918A>T" "" "benign" "" "0000247129" "0" "10" "12" "970306" "970306" "del" "0" "02330" "WNK1_000066" "g.970306del" "" "" "" "WNK1(NM_001184985.2):c.1748delA (p.K583Sfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.861140del" "" "benign" "" "0000247156" "0" "10" "12" "863505" "863505" "subst" "0.0415285" "02330" "WNK1_000056" "g.863505A>C" "" "" "" "WNK1(NM_001184985.2):c.759+15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.754339A>C" "" "benign" "" "0000247163" "0" "30" "12" "974361" "974361" "subst" "0" "02330" "WNK1_000031" "g.974361A>C" "" "" "" "WNK1(NM_213655.5):c.2225A>C (p.H742P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.865195A>C" "" "likely benign" "" "0000247167" "0" "30" "12" "1003804" "1003804" "subst" "0.000767787" "02330" "WNK1_000051" "g.1003804A>G" "" "" "" "WNK1(NM_001184985.1):c.6363+3A>G, WNK1(NM_001184985.2):c.6363+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.894638A>G" "" "likely benign" "" "0000247183" "0" "50" "12" "977963" "977963" "subst" "4.06147E-6" "02330" "WNK1_000070" "g.977963A>T" "" "" "" "WNK1(NM_001184985.2):c.3071A>T (p.N1024I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.868797A>T" "" "VUS" "" "0000248373" "0" "10" "12" "939302" "939302" "subst" "0.74959" "02325" "WNK1_000020" "g.939302A>G" "" "" "" "WNK1(NM_001184985.2):c.1287A>G (p.A429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.830136A>G" "" "benign" "" "0000248416" "0" "10" "12" "990912" "990912" "subst" "0.831744" "02325" "WNK1_000008" "g.990912A>C" "" "" "" "WNK1(NM_001184985.2):c.3946A>C (p.T1316P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.881746A>C" "" "benign" "" "0000311374" "0" "10" "12" "862641" "862641" "subst" "0" "02330" "WNK1_000059" "g.862641T>G" "" "" "" "WNK1(NM_001184985.2):c.-91T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.753475T>G" "" "benign" "" "0000311375" "0" "10" "12" "1019944" "1019944" "subst" "0" "02330" "WNK1_000054" "g.1019944G>A" "" "" "" "WNK1(NM_001184985.2):c.*1986G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.910778G>A" "" "benign" "" "0000311376" "0" "10" "12" "1020266" "1020266" "subst" "0" "02330" "WNK1_000055" "g.1020266T>C" "" "" "" "WNK1(NM_001184985.2):c.*2308T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.911100T>C" "" "benign" "" "0000311377" "0" "10" "12" "968400" "968400" "subst" "0.147208" "02330" "WNK1_000062" "g.968400C>A" "" "" "" "WNK1(NM_001184985.2):c.1401-11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.859234C>A" "" "benign" "" "0000311378" "0" "10" "12" "968489" "968489" "subst" "0.147798" "02330" "WNK1_000064" "g.968489T>C" "" "" "" "WNK1(NM_001184985.2):c.1479T>C (p.D493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.859323T>C" "" "benign" "" "0000311379" "0" "10" "12" "968536" "968536" "subst" "0.00386595" "02330" "WNK1_000065" "g.968536T>C" "" "" "" "WNK1(NM_001184985.2):c.1526T>C (p.I509T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.859370T>C" "" "benign" "" "0000311381" "0" "10" "12" "971291" "971291" "subst" "0.0659756" "02330" "WNK1_000021" "g.971291C>T" "" "" "" "WNK1(NM_001184985.2):c.1994C>T (p.T665I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.862125C>T" "" "benign" "" "0000311382" "0" "10" "12" "971378" "971378" "subst" "0.00388473" "02330" "WNK1_000058" "g.971378T>C" "" "" "" "WNK1(NM_001184985.2):c.2081T>C (p.I694T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.862212T>C" "" "benign" "" "0000311383" "0" "50" "12" "974282" "974282" "subst" "8.56032E-5" "02330" "WNK1_000026" "g.974282C>T" "" "" "" "WNK1(NM_213655.5):c.2146C>T (p.R716C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.865116C>T" "" "VUS" "" "0000311385" "0" "10" "12" "974326" "974326" "subst" "0.115113" "02330" "WNK1_000029" "g.974326G>C" "" "" "" "WNK1(NM_213655.5):c.2190G>C (p.L730F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.865160G>C" "" "benign" "" "0000311387" "0" "10" "12" "974404" "974404" "subst" "0.608169" "02330" "WNK1_000032" "g.974404T>C" "" "" "" "WNK1(NM_213655.5):c.2268T>C (p.P756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.865238T>C" "" "benign" "" "0000311388" "0" "90" "12" "977212" "977212" "subst" "0" "02330" "WNK1_000033" "g.977212C>T" "" "" "" "WNK1(NM_001184985.2):c.2320C>T (p.Q774*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.868046C>T" "" "pathogenic" "" "0000311389" "0" "10" "12" "988894" "988894" "subst" "0.157211" "02330" "WNK1_000007" "g.988894G>A" "" "" "" "WNK1(NM_018979.4):c.2529G>A (p.Q843=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.879728G>A" "" "benign" "" "0000311390" "0" "10" "12" "862989" "862989" "subst" "0.994246" "02330" "WNK1_000016" "g.862989T>C" "" "" "" "WNK1(NM_001184985.2):c.258T>C (p.C86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.753823T>C" "" "benign" "" "0000311391" "0" "90" "12" "977545" "977545" "subst" "1.62526E-5" "02330" "WNK1_000034" "g.977545C>T" "" "" "" "WNK1(NM_001184985.2):c.2653C>T (p.Q885*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.868379C>T" "" "pathogenic" "" "0000311392" "0" "50" "12" "977744" "977744" "subst" "0.00010981" "02330" "WNK1_000035" "g.977744C>T" "" "" "" "WNK1(NM_001184985.2):c.2852C>T (p.A951V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.868578C>T" "" "VUS" "" "0000311393" "0" "90" "12" "977863" "977863" "subst" "1.21983E-5" "02330" "WNK1_000036" "g.977863C>T" "" "" "" "WNK1(NM_001184985.2):c.2971C>T (p.R991*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.868697C>T" "" "pathogenic" "" "0000311394" "0" "90" "12" "977913" "977913" "dup" "0" "02330" "WNK1_000037" "g.977913dup" "" "" "" "WNK1(NM_001184985.2):c.3021dupA (p.S1008Ifs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.868747dup" "" "pathogenic" "" "0000311395" "0" "90" "12" "977938" "977938" "subst" "1.6247E-5" "02330" "WNK1_000038" "g.977938C>T" "" "" "" "WNK1(NM_001184985.2):c.3046C>T (p.Q1016*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.868772C>T" "" "pathogenic" "" "0000311396" "0" "50" "12" "977965" "977965" "subst" "4.06161E-6" "02330" "WNK1_000039" "g.977965T>A" "" "" "" "WNK1(NM_001184985.2):c.3073T>A (p.Y1025N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.868799T>A" "" "VUS" "" "0000311397" "0" "90" "12" "978084" "978084" "dup" "0" "02330" "WNK1_000040" "g.978084dup" "" "" "" "WNK1(NM_001184985.2):c.3192dupT (p.Q1065Sfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.868918dup" "" "pathogenic" "" "0000311398" "0" "90" "12" "978129" "978129" "dup" "0" "02330" "WNK1_000041" "g.978129dup" "" "" "" "WNK1(NM_001184985.2):c.3237dupT (p.D1080*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.868963dup" "" "pathogenic" "" "0000311399" "0" "10" "12" "987482" "987482" "subst" "0.738518" "02330" "WNK1_000022" "g.987482G>A" "" "" "" "WNK1(NM_001184985.2):c.3567G>A (p.Q1189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.878316G>A" "" "benign" "" "0000311400" "0" "30" "12" "987490" "987490" "subst" "0.000759527" "02330" "WNK1_000042" "g.987490C>T" "" "" "" "WNK1(NM_001184985.1):c.3575C>T (p.A1192V), WNK1(NM_001184985.2):c.3575C>T (p.A1192V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.878324C>T" "" "likely benign" "" "0000311403" "0" "10" "12" "987548" "987548" "del" "0" "02330" "WNK1_000071" "g.987548del" "" "" "" "WNK1(NM_001184985.2):c.3612+21delT, WNK1(NM_018979.4):c.2373+21delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.878382del" "" "benign" "" "0000311404" "0" "50" "12" "990083" "990083" "subst" "0" "02330" "WNK1_000073" "g.990083T>G" "" "" "" "WNK1(NM_001184985.2):c.3809T>G (p.V1270G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.880917T>G" "" "VUS" "" "0000311405" "0" "10" "12" "863152" "863152" "subst" "0.123443" "02330" "WNK1_000060" "g.863152G>A" "" "" "" "WNK1(NM_001184985.2):c.421G>A (p.A141T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.753986G>A" "" "benign" "" "0000311406" "0" "10" "12" "992556" "992556" "subst" "0.00414221" "02330" "WNK1_000074" "g.992556T>A" "" "" "" "WNK1(NM_001184985.2):c.4270-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.883390T>A" "" "benign" "" "0000311407" "0" "50" "12" "992649" "992649" "subst" "0.000572691" "02330" "WNK1_000075" "g.992649G>A" "" "" "" "WNK1(NM_001184985.2):c.4358G>A (p.S1453N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.883483G>A" "" "VUS" "" "0000311408" "0" "10" "12" "992925" "992925" "subst" "0.000629616" "02330" "WNK1_000076" "g.992925T>A" "" "" "" "WNK1(NM_001184985.1):c.4444-15T>A, WNK1(NM_001184985.2):c.4444-15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.883759T>A" "" "benign" "" "0000311409" "0" "10" "12" "993930" "993930" "subst" "0.420536" "02330" "WNK1_000011" "g.993930C>T" "" "" "" "WNK1(NM_001184985.2):c.4740C>T (p.N1580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.884764C>T" "" "benign" "" "0000311410" "0" "10" "12" "994014" "994014" "subst" "0.156389" "02330" "WNK1_000012" "g.994014C>T" "" "" "" "WNK1(NM_001184985.2):c.4824C>T (p.T1608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.884848C>T" "" "benign" "" "0000311411" "0" "10" "12" "994487" "994487" "subst" "0.996929" "02330" "WNK1_000013" "g.994487G>C" "" "" "" "WNK1(NM_001184985.2):c.5297G>C (p.C1766S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.885321G>C" "" "benign" "" "0000311412" "0" "10" "12" "994953" "994953" "subst" "0.00223038" "02330" "WNK1_000046" "g.994953T>C" "" "" "" "WNK1(NM_001184985.1):c.5763T>C (p.S1921=), WNK1(NM_001184985.2):c.5763T>C (p.S1921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.885787T>C" "" "benign" "" "0000311413" "0" "10" "12" "996383" "996383" "subst" "0.0025463" "02330" "WNK1_000048" "g.996383G>A" "" "" "" "WNK1(NM_001184985.1):c.6061-4G>A, WNK1(NM_001184985.2):c.6061-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.887217G>A" "" "benign" "" "0000311414" "0" "30" "12" "999638" "999638" "subst" "0.0165337" "02330" "WNK1_000049" "g.999638C>T" "" "" "" "WNK1(NM_001184985.2):c.6248C>T (p.P2083L), WNK1(NM_018979.4):c.5468C>T (p.P1823L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.890472C>T" "" "likely benign" "" "0000311415" "0" "50" "12" "1005522" "1005522" "subst" "0.000406379" "02330" "WNK1_000052" "g.1005522C>T" "" "" "" "WNK1(NM_001184985.2):c.6649C>T (p.R2217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.896356C>T" "" "VUS" "" "0000311416" "0" "10" "12" "1005644" "1005644" "subst" "0.00199185" "02330" "WNK1_000053" "g.1005644G>A" "" "" "" "WNK1(NM_001184985.1):c.6771G>A (p.E2257=), WNK1(NM_001184985.2):c.6771G>A (p.E2257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.896478G>A" "" "benign" "" "0000311418" "0" "10" "12" "1017197" "1017197" "subst" "0.997003" "02330" "WNK1_000005" "g.1017197C>T" "" "" "" "WNK1(NM_001184985.2):c.7608C>T (p.Y2536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.908031C>T" "" "benign" "" "0000313090" "0" "10" "12" "936468" "936468" "subst" "0.750568" "02325" "WNK1_000019" "g.936468C>G" "" "" "" "WNK1(NM_001184985.2):c.1153+40C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.827302C>G" "" "benign" "" "0000313091" "0" "10" "12" "974311" "974311" "dup" "0" "02325" "WNK1_000028" "g.974311dup" "" "" "" "WNK1(NM_213655.4):c.2175dupC (p.I726Hfs*45), WNK1(NM_213655.5):c.2175dupC (p.I726Hfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.865145dup" "" "benign" "" "0000313092" "0" "10" "12" "862989" "862989" "subst" "0.994246" "02325" "WNK1_000016" "g.862989T>C" "" "" "" "WNK1(NM_001184985.2):c.258T>C (p.C86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.753823T>C" "" "benign" "" "0000313093" "0" "10" "12" "987482" "987482" "subst" "0.738518" "02325" "WNK1_000022" "g.987482G>A" "" "" "" "WNK1(NM_001184985.2):c.3567G>A (p.Q1189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.878316G>A" "" "benign" "" "0000313094" "0" "10" "12" "993930" "993930" "subst" "0.420536" "02325" "WNK1_000011" "g.993930C>T" "" "" "" "WNK1(NM_001184985.2):c.4740C>T (p.N1580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.884764C>T" "" "benign" "" "0000313095" "0" "10" "12" "994487" "994487" "subst" "0.996929" "02325" "WNK1_000013" "g.994487G>C" "" "" "" "WNK1(NM_001184985.2):c.5297G>C (p.C1766S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.885321G>C" "" "benign" "" "0000313096" "0" "10" "12" "1017197" "1017197" "subst" "0.997003" "02325" "WNK1_000005" "g.1017197C>T" "" "" "" "WNK1(NM_001184985.2):c.7608C>T (p.Y2536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.908031C>T" "" "benign" "" "0000315401" "0" "30" "12" "968402" "968402" "subst" "0" "02326" "WNK1_000063" "g.968402G>T" "" "" "" "WNK1(NM_018979.4):c.1401-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.859236G>T" "" "likely benign" "" "0000315402" "0" "30" "12" "988725" "988725" "subst" "0" "02326" "WNK1_000072" "g.988725C>T" "" "" "" "WNK1(NM_018979.4):c.2374-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.879559C>T" "" "likely benign" "" "0000315404" "0" "10" "12" "987548" "987548" "del" "0" "02326" "WNK1_000071" "g.987548del" "" "" "" "WNK1(NM_001184985.2):c.3612+21delT, WNK1(NM_018979.4):c.2373+21delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.878382del" "" "benign" "" "0000315405" "0" "10" "12" "999638" "999638" "subst" "0.0165337" "02326" "WNK1_000049" "g.999638C>T" "" "" "" "WNK1(NM_001184985.2):c.6248C>T (p.P2083L), WNK1(NM_018979.4):c.5468C>T (p.P1823L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.890472C>T" "" "benign" "" "0000315406" "0" "30" "12" "1003760" "1003768" "del" "0" "02326" "WNK1_000050" "g.1003760_1003768del" "" "" "" "WNK1(NM_001184985.1):c.6322_6330delACTAGTTCA (p.T2108_S2110del), WNK1(NM_001184985.2):c.6322_6330delACTAGTTCA (p.T2108_S2110del), WNK1(NM_018979.4)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.894594_894602del" "" "likely benign" "" "0000319986" "0" "30" "12" "994953" "994953" "subst" "0.00223038" "01943" "WNK1_000046" "g.994953T>C" "" "" "" "WNK1(NM_001184985.1):c.5763T>C (p.S1921=), WNK1(NM_001184985.2):c.5763T>C (p.S1921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.885787T>C" "" "likely benign" "" "0000319987" "0" "50" "12" "995249" "995249" "subst" "5.04274E-5" "01943" "WNK1_000047" "g.995249C>T" "" "" "" "WNK1(NM_001184985.1):c.6059C>T (p.P2020L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.886083C>T" "" "VUS" "" "0000319988" "0" "30" "12" "1003760" "1003768" "del" "0" "01943" "WNK1_000050" "g.1003760_1003768del" "" "" "" "WNK1(NM_001184985.1):c.6322_6330delACTAGTTCA (p.T2108_S2110del), WNK1(NM_001184985.2):c.6322_6330delACTAGTTCA (p.T2108_S2110del), WNK1(NM_018979.4)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.894594_894602del" "" "likely benign" "" "0000338829" "0" "10" "12" "862641" "862641" "subst" "0" "02327" "WNK1_000059" "g.862641T>G" "" "" "" "WNK1(NM_001184985.2):c.-91T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.753475T>G" "" "benign" "" "0000338952" "0" "10" "12" "968400" "968400" "subst" "0.147208" "02327" "WNK1_000062" "g.968400C>A" "" "" "" "WNK1(NM_001184985.2):c.1401-11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.859234C>A" "" "benign" "" "0000338959" "0" "10" "12" "992229" "992229" "subst" "0.116826" "02327" "WNK1_000010" "g.992229C>T" "" "" "" "WNK1(NM_001184985.2):c.4269+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.883063C>T" "" "benign" "" "0000339214" "0" "10" "12" "1017197" "1017197" "subst" "0.997003" "02327" "WNK1_000005" "g.1017197C>T" "" "" "" "WNK1(NM_001184985.2):c.7608C>T (p.Y2536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.908031C>T" "" "benign" "" "0000340499" "0" "10" "12" "862989" "862989" "subst" "0.994246" "02327" "WNK1_000016" "g.862989T>C" "" "" "" "WNK1(NM_001184985.2):c.258T>C (p.C86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.753823T>C" "" "benign" "" "0000340567" "0" "10" "12" "939302" "939302" "subst" "0.74959" "02327" "WNK1_000020" "g.939302A>G" "" "" "" "WNK1(NM_001184985.2):c.1287A>G (p.A429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.830136A>G" "" "benign" "" "0000340594" "0" "10" "12" "968489" "968489" "subst" "0.147798" "02327" "WNK1_000064" "g.968489T>C" "" "" "" "WNK1(NM_001184985.2):c.1479T>C (p.D493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.859323T>C" "" "benign" "" "0000340596" "0" "10" "12" "987482" "987482" "subst" "0.738518" "02327" "WNK1_000022" "g.987482G>A" "" "" "" "WNK1(NM_001184985.2):c.3567G>A (p.Q1189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.878316G>A" "" "benign" "" "0000340599" "0" "10" "12" "993930" "993930" "subst" "0.420536" "02327" "WNK1_000011" "g.993930C>T" "" "" "" "WNK1(NM_001184985.2):c.4740C>T (p.N1580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.884764C>T" "" "benign" "" "0000340600" "0" "10" "12" "994014" "994014" "subst" "0.156389" "02327" "WNK1_000012" "g.994014C>T" "" "" "" "WNK1(NM_001184985.2):c.4824C>T (p.T1608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.884848C>T" "" "benign" "" "0000343432" "0" "50" "12" "977470" "977470" "subst" "4.61518E-5" "02327" "WNK1_000068" "g.977470C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.868304C>T" "" "VUS" "" "0000344290" "0" "10" "12" "994487" "994487" "subst" "0.996929" "02327" "WNK1_000013" "g.994487G>C" "" "" "" "WNK1(NM_001184985.2):c.5297G>C (p.C1766S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.885321G>C" "" "benign" "" "0000347771" "0" "10" "12" "998365" "998365" "subst" "0.370265" "02327" "WNK1_000023" "g.998365G>T" "" "" "" "WNK1(NM_001184985.2):c.6204G>T (p.M2068I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.889199G>T" "" "benign" "" "0000349273" "0" "10" "12" "990912" "990912" "subst" "0.831744" "02327" "WNK1_000008" "g.990912A>C" "" "" "" "WNK1(NM_001184985.2):c.3946A>C (p.T1316P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.881746A>C" "" "benign" "" "0000349595" "0" "10" "12" "971291" "971291" "subst" "0.0659756" "02327" "WNK1_000021" "g.971291C>T" "" "" "" "WNK1(NM_001184985.2):c.1994C>T (p.T665I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.862125C>T" "" "benign" "" "0000351653" "0" "90" "12" "968601" "968602" "del" "0" "00006" "WNK1_000001" "g.968601_968602del" "" "{PMID:Shekarabi 2008:18521183}" "" "1591_1592delGA" "" "Germline" "" "" "0" "" "" "g.859435_859436del" "" "pathogenic" "" "0000351654" "0" "90" "12" "970382" "970382" "dup" "0" "00006" "WNK1_000002" "g.970382dup" "" "{PMID:Greenman 2007:17344846}" "" "1824dupT" "" "Germline" "" "" "0" "" "" "g.861216dup" "" "pathogenic" "" "0000351655" "0" "90" "12" "990912" "990912" "subst" "0" "00006" "WNK1_000003" "g.990912C>A" "" "{PMID:Webb 2006:17000706}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs956868" "0" "" "" "" "" "pathogenic" "" "0000546179" "0" "10" "12" "1003760" "1003768" "del" "0" "02330" "WNK1_000050" "g.1003760_1003768del" "" "" "" "WNK1(NM_001184985.1):c.6322_6330delACTAGTTCA (p.T2108_S2110del), WNK1(NM_001184985.2):c.6322_6330delACTAGTTCA (p.T2108_S2110del), WNK1(NM_018979.4)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.894594_894602del" "" "benign" "" "0000546181" "0" "30" "12" "1005743" "1005743" "subst" "8.1355E-6" "02330" "WNK1_000099" "g.1005743A>G" "" "" "" "WNK1(NM_001184985.2):c.6870A>G (p.P2290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.896577A>G" "" "likely benign" "" "0000546182" "0" "30" "12" "1005803" "1005803" "subst" "0.00140119" "02330" "WNK1_000100" "g.1005803T>C" "" "" "" "WNK1(NM_001184985.1):c.6930T>C (p.L2310=), WNK1(NM_001184985.2):c.6930T>C (p.L2310=), WNK1(NM_018979.4):c.6150T>C (p.L2050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.896637T>C" "" "likely benign" "" "0000546188" "0" "50" "12" "1009740" "1009740" "subst" "1.219E-5" "02330" "WNK1_000101" "g.1009740C>A" "" "" "" "WNK1(NM_001184985.2):c.7327C>A (p.Q2443K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.900574C>A" "" "VUS" "" "0000546189" "0" "30" "12" "1009854" "1009854" "subst" "0.000987781" "02330" "WNK1_000102" "g.1009854A>G" "" "" "" "WNK1(NM_001184985.1):c.7423+18A>G, WNK1(NM_001184985.2):c.7423+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.900688A>G" "" "likely benign" "" "0000546192" "0" "50" "12" "1017744" "1017744" "subst" "5.68565E-5" "01943" "RAD52_000001" "g.1017744C>G" "" "" "" "WNK1(NM_001184985.1):c.7715C>G (p.S2572C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.908578C>G" "" "VUS" "" "0000549283" "0" "10" "12" "863415" "863415" "subst" "0.00273731" "02330" "WNK1_000077" "g.863415C>T" "" "" "" "WNK1(NM_001184985.1):c.684C>T (p.G228=), WNK1(NM_001184985.2):c.684C>T (p.G228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.754249C>T" "" "benign" "" "0000549284" "0" "10" "12" "863506" "863508" "dup" "0" "02330" "WNK1_000017" "g.863506_863508dup" "" "" "" "WNK1(NM_001184985.1):c.759+16_759+18dupCTT, WNK1(NM_001184985.2):c.759+16_759+18dupCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.754340_754342dup" "" "benign" "" "0000549533" "0" "30" "12" "936349" "936349" "subst" "0.00147041" "02330" "WNK1_000078" "g.936349C>T" "" "" "" "WNK1(NM_001184985.1):c.1074C>T (p.T358=), WNK1(NM_001184985.2):c.1074C>T (p.T358=), WNK1(NM_018979.4):c.1074C>T (p.T358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.827183C>T" "" "likely benign" "" "0000549553" "0" "10" "12" "968522" "968522" "subst" "0.00389708" "02330" "WNK1_000079" "g.968522A>G" "" "" "" "WNK1(NM_001184985.2):c.1512A>G (p.L504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.859356A>G" "" "benign" "" "0000549554" "0" "30" "12" "970306" "970306" "dup" "0" "02330" "WNK1_000080" "g.970306dup" "" "" "" "WNK1(NM_001184985.2):c.1748dupA (p.Q584Afs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.861140dup" "" "likely benign" "" "0000549555" "0" "50" "12" "970413" "970413" "subst" "0.000781854" "02330" "WNK1_000081" "g.970413A>G" "" "" "" "WNK1(NM_001184985.2):c.1855A>G (p.T619A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.861247A>G" "" "VUS" "" "0000549557" "0" "30" "12" "971274" "971274" "subst" "1.21915E-5" "02330" "WNK1_000082" "g.971274G>A" "" "" "" "WNK1(NM_001184985.2):c.1977G>A (p.Q659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.862108G>A" "" "likely benign" "" "0000549559" "0" "10" "12" "974311" "974311" "dup" "0" "02330" "WNK1_000028" "g.974311dup" "" "" "" "WNK1(NM_213655.4):c.2175dupC (p.I726Hfs*45), WNK1(NM_213655.5):c.2175dupC (p.I726Hfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.865145dup" "" "benign" "" "0000549560" "0" "10" "12" "974311" "974311" "dup" "0" "01943" "WNK1_000028" "g.974311dup" "" "" "" "WNK1(NM_213655.4):c.2175dupC (p.I726Hfs*45), WNK1(NM_213655.5):c.2175dupC (p.I726Hfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.865145dup" "" "benign" "" "0000549561" "0" "10" "12" "974356" "974356" "dup" "0" "02330" "WNK1_000083" "g.974356dup" "" "" "" "WNK1(NM_213655.4):c.2220dupC (p.F741Lfs*30), WNK1(NM_213655.5):c.2220dupC (p.F741Lfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.865190dup" "" "benign" "" "0000549562" "0" "10" "12" "974356" "974356" "dup" "0" "02325" "WNK1_000083" "g.974356dup" "" "" "" "WNK1(NM_213655.4):c.2220dupC (p.F741Lfs*30), WNK1(NM_213655.5):c.2220dupC (p.F741Lfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.865190dup" "" "benign" "" "0000549563" "0" "50" "12" "974454" "974454" "subst" "0" "02330" "WNK1_000084" "g.974454A>C" "" "" "" "WNK1(NM_213655.5):c.2318A>C (p.E773A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.865288A>C" "" "VUS" "" "0000549564" "0" "50" "12" "974498" "974498" "subst" "0.00159828" "02330" "WNK1_000085" "g.974498C>T" "" "" "" "WNK1(NM_213655.4):c.2362C>T (p.R788C), WNK1(NM_213655.5):c.2362C>T (p.R788C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.865332C>T" "" "VUS" "" "0000549565" "0" "50" "12" "977041" "977041" "subst" "1.21992E-5" "02330" "WNK1_000086" "g.977041A>G" "" "" "" "WNK1(NM_001184985.2):c.2149A>G (p.M717V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.867875A>G" "" "VUS" "" "0000549566" "0" "10" "12" "987547" "987548" "dup" "0" "02330" "WNK1_000087" "g.987547_987548dup" "" "" "" "WNK1(NM_001184985.2):c.3612+20_3612+21dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.878381_878382dup" "" "benign" "" "0000549568" "0" "10" "12" "987548" "987548" "dup" "0" "02330" "WNK1_000088" "g.987548dup" "" "" "" "WNK1(NM_001184985.2):c.3612+21dupT, WNK1(NM_018979.4):c.2373+21dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.878382dup" "" "benign" "" "0000549569" "0" "10" "12" "987548" "987548" "dup" "0" "02326" "WNK1_000088" "g.987548dup" "" "" "" "WNK1(NM_001184985.2):c.3612+21dupT, WNK1(NM_018979.4):c.2373+21dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.878382dup" "" "benign" "" "0000549570" "0" "10" "12" "988855" "988855" "subst" "0.00180332" "02330" "WNK1_000089" "g.988855G>A" "" "" "" "WNK1(NM_018979.4):c.2490G>A (p.P830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.879689G>A" "" "benign" "" "0000549572" "0" "30" "12" "989140" "989140" "subst" "0" "02330" "WNK1_000090" "g.989140A>T" "" "" "" "WNK1(NM_018979.4):c.2775A>T (p.P925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.879974A>T" "" "likely benign" "" "0000549583" "0" "10" "12" "992229" "992229" "subst" "0.116826" "02330" "WNK1_000010" "g.992229C>T" "" "" "" "WNK1(NM_001184985.2):c.4269+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.883063C>T" "" "benign" "" "0000549584" "0" "10" "12" "992725" "992725" "subst" "0.00471859" "02330" "WNK1_000091" "g.992725A>G" "" "" "" "WNK1(NM_001184985.1):c.4434A>G (p.S1478=), WNK1(NM_001184985.2):c.4434A>G (p.S1478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.883559A>G" "" "benign" "" "0000549585" "0" "50" "12" "993961" "993961" "subst" "8.12387E-6" "02330" "WNK1_000092" "g.993961C>A" "" "" "" "WNK1(NM_001184985.1):c.4771C>A (p.P1591T), WNK1(NM_001184985.2):c.4771C>A (p.P1591T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.884795C>A" "" "VUS" "" "0000549586" "0" "50" "12" "993961" "993961" "subst" "8.12387E-6" "01943" "WNK1_000092" "g.993961C>A" "" "" "" "WNK1(NM_001184985.1):c.4771C>A (p.P1591T), WNK1(NM_001184985.2):c.4771C>A (p.P1591T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.884795C>A" "" "VUS" "" "0000549587" "0" "30" "12" "994240" "994240" "subst" "7.71737E-5" "01943" "WNK1_000093" "g.994240A>G" "" "" "" "WNK1(NM_001184985.1):c.5050A>G (p.I1684V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.885074A>G" "" "likely benign" "" "0000549588" "0" "30" "12" "994290" "994290" "subst" "0.000545176" "02330" "WNK1_000094" "g.994290C>T" "" "" "" "WNK1(NM_001184985.1):c.5100C>T (p.I1700=), WNK1(NM_001184985.2):c.5100C>T (p.I1700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.885124C>T" "" "likely benign" "" "0000549589" "0" "30" "12" "994324" "994324" "subst" "0.00221971" "02330" "WNK1_000095" "g.994324A>G" "" "" "" "WNK1(NM_001184985.1):c.5134A>G (p.T1712A), WNK1(NM_001184985.2):c.5134A>G (p.T1712A), WNK1(NM_018979.4):c.4354A>G (p.(Thr1452Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.885158A>G" "" "likely benign" "" "0000549590" "0" "30" "12" "994324" "994324" "subst" "0.00221971" "01943" "WNK1_000095" "g.994324A>G" "" "" "" "WNK1(NM_001184985.1):c.5134A>G (p.T1712A), WNK1(NM_001184985.2):c.5134A>G (p.T1712A), WNK1(NM_018979.4):c.4354A>G (p.(Thr1452Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.885158A>G" "" "likely benign" "" "0000549591" "0" "30" "12" "994575" "994577" "del" "0" "02330" "WNK1_000096" "g.994575_994577del" "" "" "" "WNK1(NM_001184985.2):c.5385_5387delCAG (p.S1796del), WNK1(NM_018979.4):c.4605_4607delCAG (p.S1536del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.885409_885411del" "" "likely benign" "" "0000549592" "0" "30" "12" "994575" "994577" "del" "0" "02326" "WNK1_000096" "g.994575_994577del" "" "" "" "WNK1(NM_001184985.2):c.5385_5387delCAG (p.S1796del), WNK1(NM_018979.4):c.4605_4607delCAG (p.S1536del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.885409_885411del" "" "likely benign" "" "0000549593" "0" "30" "12" "995114" "995114" "subst" "6.53652E-5" "01943" "WNK1_000097" "g.995114A>G" "" "" "" "WNK1(NM_001184985.1):c.5924A>G (p.N1975S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.885948A>G" "" "likely benign" "" "0000549594" "0" "50" "12" "995206" "995206" "subst" "0" "02330" "WNK1_000098" "g.995206A>G" "" "" "" "WNK1(NM_001184985.2):c.6016A>G (p.K2006E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.886040A>G" "" "VUS" "" "0000549595" "0" "10" "12" "998365" "998365" "subst" "0.370265" "02330" "WNK1_000023" "g.998365G>T" "" "" "" "WNK1(NM_001184985.2):c.6204G>T (p.M2068I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.889199G>T" "" "benign" "" "0000597609" "3" "90" "12" "974288" "974288" "subst" "5.09139E-5" "00006" "WNK1_000103" "g.974288C>T" "" "{PMID:Monies 2016:27671536}" "" "" "ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.865122C>T" "" "pathogenic" "ACMG" "0000614433" "0" "30" "12" "936355" "936355" "subst" "0" "01943" "WNK1_000104" "g.936355T>C" "" "" "" "WNK1(NM_001184985.1):c.1080T>C (p.P360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.827189T>C" "" "likely benign" "" "0000614437" "0" "50" "12" "974308" "974308" "subst" "0.00125356" "02330" "WNK1_000108" "g.974308T>C" "" "" "" "WNK1(NM_213655.4):c.2172T>C (p.V724=), WNK1(NM_213655.5):c.2172T>C (p.V724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.865142T>C" "" "VUS" "" "0000614438" "0" "50" "12" "978008" "978008" "subst" "0.000150361" "02330" "WNK1_000110" "g.978008G>A" "" "" "" "WNK1(NM_001184985.1):c.3116G>A (p.G1039E), WNK1(NM_001184985.2):c.3116G>A (p.G1039E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.868842G>A" "" "VUS" "" "0000623000" "0" "10" "12" "971317" "971317" "subst" "0.00226698" "02330" "WNK1_000105" "g.971317A>G" "" "" "" "WNK1(NM_001184985.1):c.2020A>G (p.T674A), WNK1(NM_001184985.2):c.2020A>G (p.T674A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.862151A>G" "" "benign" "" "0000623001" "0" "30" "12" "971349" "971349" "subst" "0.000816675" "02330" "WNK1_000106" "g.971349A>G" "" "" "" "WNK1(NM_001184985.1):c.2052A>G (p.A684=), WNK1(NM_001184985.2):c.2052A>G (p.A684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.862183A>G" "" "likely benign" "" "0000623002" "0" "10" "12" "974291" "974291" "subst" "0.000915487" "02330" "WNK1_000107" "g.974291A>G" "" "" "" "WNK1(NM_213655.4):c.2155A>G (p.S719G), WNK1(NM_213655.5):c.2155A>G (p.S719G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.865125A>G" "" "benign" "" "0000623003" "0" "30" "12" "977296" "977296" "subst" "0.000345242" "02330" "WNK1_000109" "g.977296T>C" "" "" "" "WNK1(NM_001184985.2):c.2404T>C (p.L802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.868130T>C" "" "likely benign" "" "0000623004" "0" "50" "12" "980515" "980515" "subst" "0" "01943" "WNK1_000111" "g.980515G>A" "" "" "" "WNK1(NM_001184985.1):c.3462+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.871349G>A" "" "VUS" "" "0000623005" "0" "30" "12" "988734" "988734" "subst" "0" "02330" "WNK1_000112" "g.988734C>T" "" "" "" "WNK1(NM_001184985.2):c.3613-1153C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.879568C>T" "" "likely benign" "" "0000648678" "1" "10" "12" "971291" "971291" "subst" "0.0659756" "03575" "WNK1_000021" "g.971291C>T" "144/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "144 heterozygous; {DB:CLININrs2286007}" "Germline" "" "rs2286007" "0" "" "" "g.862125C>T" "" "benign" "" "0000648679" "1" "30" "12" "971317" "971317" "subst" "0.00226698" "03575" "WNK1_000105" "g.971317A>G" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs11833299}" "Germline" "" "rs11833299" "0" "" "" "g.862151A>G" "" "likely benign" "" "0000648682" "1" "10" "12" "999638" "999638" "subst" "0.0165337" "03575" "WNK1_000049" "g.999638C>T" "263/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "263 heterozygous; {DB:CLININrs17755373}" "Germline" "" "rs17755373" "0" "" "" "g.890472C>T" "" "benign" "" "0000656963" "0" "30" "12" "1005486" "1005486" "subst" "0.000690776" "02330" "WNK1_000114" "g.1005486C>T" "" "" "" "WNK1(NM_001184985.2):c.6613C>T (p.R2205C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.896320C>T" "" "likely benign" "" "0000656964" "0" "30" "12" "1005689" "1005689" "subst" "4.06517E-6" "02330" "WNK1_000115" "g.1005689T>G" "" "" "" "WNK1(NM_001184985.2):c.6816T>G (p.S2272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.896523T>G" "" "likely benign" "" "0000657216" "0" "30" "12" "980497" "980497" "subst" "0.00187213" "02330" "WNK1_000113" "g.980497A>G" "" "" "" "WNK1(NM_001184985.1):c.3445A>G (p.I1149V), WNK1(NM_001184985.2):c.3445A>G (p.I1149V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.871331A>G" "" "likely benign" "" "0000669205" "3" "10" "12" "971291" "971291" "subst" "0.0659756" "03575" "WNK1_000021" "g.971291C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs2286007}" "Germline" "" "rs2286007" "0" "" "" "g.862125C>T" "" "benign" "" "0000669207" "3" "10" "12" "999638" "999638" "subst" "0.0165337" "03575" "WNK1_000049" "g.999638C>T" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 homozygous; {DB:CLININrs17755373}" "Germline" "" "rs17755373" "0" "" "" "g.890472C>T" "" "benign" "" "0000679375" "0" "30" "12" "1005803" "1005803" "subst" "0.00140119" "02326" "WNK1_000100" "g.1005803T>C" "" "" "" "WNK1(NM_001184985.1):c.6930T>C (p.L2310=), WNK1(NM_001184985.2):c.6930T>C (p.L2310=), WNK1(NM_018979.4):c.6150T>C (p.L2050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679692" "0" "30" "12" "936349" "936349" "subst" "0.00147041" "02326" "WNK1_000078" "g.936349C>T" "" "" "" "WNK1(NM_001184985.1):c.1074C>T (p.T358=), WNK1(NM_001184985.2):c.1074C>T (p.T358=), WNK1(NM_018979.4):c.1074C>T (p.T358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691436" "0" "10" "12" "862404" "862404" "subst" "0" "02327" "WNK1_000116" "g.862404C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723782" "0" "30" "12" "1005803" "1005803" "subst" "0.00140119" "01943" "WNK1_000100" "g.1005803T>C" "" "" "" "WNK1(NM_001184985.1):c.6930T>C (p.L2310=), WNK1(NM_001184985.2):c.6930T>C (p.L2310=), WNK1(NM_018979.4):c.6150T>C (p.L2050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724263" "0" "50" "12" "862730" "862730" "subst" "1.68004E-5" "02330" "WNK1_000117" "g.862730C>T" "" "" "" "WNK1(NM_001184985.2):c.-2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724303" "0" "30" "12" "936192" "936192" "subst" "0" "02330" "WNK1_000118" "g.936192A>T" "" "" "" "WNK1(NM_001184985.2):c.933-16A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724304" "0" "30" "12" "936349" "936349" "subst" "0.00147041" "01943" "WNK1_000078" "g.936349C>T" "" "" "" "WNK1(NM_001184985.1):c.1074C>T (p.T358=), WNK1(NM_001184985.2):c.1074C>T (p.T358=), WNK1(NM_018979.4):c.1074C>T (p.T358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724311" "0" "50" "12" "974369" "974369" "subst" "7.78113E-5" "01943" "WNK1_000119" "g.974369G>A" "" "" "" "WNK1(NM_213655.4):c.2233G>A (p.A745T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724312" "0" "50" "12" "977563" "977563" "subst" "3.25026E-5" "02330" "WNK1_000120" "g.977563G>A" "" "" "" "WNK1(NM_213655.5):c.2926G>A (p.G976S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724313" "0" "30" "12" "978008" "978008" "subst" "0.000150361" "01943" "WNK1_000110" "g.978008G>A" "" "" "" "WNK1(NM_001184985.1):c.3116G>A (p.G1039E), WNK1(NM_001184985.2):c.3116G>A (p.G1039E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724314" "0" "30" "12" "990848" "990848" "subst" "0.000978815" "01943" "WNK1_000121" "g.990848C>T" "" "" "" "WNK1(NM_001184985.1):c.3892-10C>T, WNK1(NM_001184985.2):c.3892-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805960" "0" "50" "12" "863299" "863299" "subst" "0" "02330" "WNK1_000122" "g.863299G>A" "" "" "" "WNK1(NM_001184985.2):c.568G>A (p.A190T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805987" "0" "50" "12" "987391" "987391" "subst" "0" "02330" "WNK1_000123" "g.987391A>G" "" "" "" "WNK1(NM_001184985.2):c.3476A>G (p.Q1159R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805989" "0" "50" "12" "990934" "990934" "subst" "0.000170558" "02330" "WNK1_000124" "g.990934C>T" "" "" "" "WNK1(NM_001184985.2):c.3968C>T (p.T1323I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853229" "0" "30" "12" "1022569" "1022569" "subst" "0.0349887" "01804" "RAD52_000004" "g.1022569A>C" "" "" "" "RAD52(NM_134424.2):c.1245T>G (p.(Tyr415*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853230" "0" "30" "12" "1023218" "1023218" "subst" "0.0165138" "01804" "RAD52_000005" "g.1023218G>T" "" "" "" "RAD52(NM_134424.2):c.1037C>A (p.(Ser346*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853537" "0" "10" "12" "863415" "863415" "subst" "0.00273731" "02326" "WNK1_000077" "g.863415C>T" "" "" "" "WNK1(NM_001184985.1):c.684C>T (p.G228=), WNK1(NM_001184985.2):c.684C>T (p.G228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853538" "0" "10" "12" "863506" "863508" "dup" "0" "02326" "WNK1_000017" "g.863506_863508dup" "" "" "" "WNK1(NM_001184985.1):c.759+16_759+18dupCTT, WNK1(NM_001184985.2):c.759+16_759+18dupCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853556" "0" "30" "12" "974308" "974308" "subst" "0.00125356" "02326" "WNK1_000108" "g.974308T>C" "" "" "" "WNK1(NM_213655.4):c.2172T>C (p.V724=), WNK1(NM_213655.5):c.2172T>C (p.V724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853557" "0" "30" "12" "980497" "980497" "subst" "0.00187213" "02326" "WNK1_000113" "g.980497A>G" "" "" "" "WNK1(NM_001184985.1):c.3445A>G (p.I1149V), WNK1(NM_001184985.2):c.3445A>G (p.I1149V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853559" "0" "30" "12" "992242" "992242" "subst" "0.00250254" "02326" "WNK1_000128" "g.992242A>G" "" "" "" "WNK1(NM_001184985.1):c.4269+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853560" "0" "10" "12" "992725" "992725" "subst" "0.00471859" "02326" "WNK1_000091" "g.992725A>G" "" "" "" "WNK1(NM_001184985.1):c.4434A>G (p.S1478=), WNK1(NM_001184985.2):c.4434A>G (p.S1478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853561" "0" "30" "12" "994290" "994290" "subst" "0.000545176" "02326" "WNK1_000094" "g.994290C>T" "" "" "" "WNK1(NM_001184985.1):c.5100C>T (p.I1700=), WNK1(NM_001184985.2):c.5100C>T (p.I1700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853562" "0" "10" "12" "996383" "996383" "subst" "0.0025463" "02326" "WNK1_000048" "g.996383G>A" "" "" "" "WNK1(NM_001184985.1):c.6061-4G>A, WNK1(NM_001184985.2):c.6061-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863156" "0" "50" "12" "922913" "922913" "subst" "0.000113792" "02330" "WNK1_000125" "g.922913T>C" "" "" "" "WNK1(NM_001184985.2):c.865T>C (p.S289P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863157" "0" "30" "12" "922963" "922963" "subst" "0.000707553" "02330" "WNK1_000126" "g.922963G>A" "" "" "" "WNK1(NM_001184985.2):c.915G>A (p.T305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863159" "0" "50" "12" "974498" "974498" "subst" "0.00159828" "01943" "WNK1_000085" "g.974498C>T" "" "" "" "WNK1(NM_213655.4):c.2362C>T (p.R788C), WNK1(NM_213655.5):c.2362C>T (p.R788C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863160" "0" "30" "12" "974498" "974498" "subst" "0.00159828" "02326" "WNK1_000085" "g.974498C>T" "" "" "" "WNK1(NM_213655.4):c.2362C>T (p.R788C), WNK1(NM_213655.5):c.2362C>T (p.R788C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863161" "0" "50" "12" "990007" "990007" "subst" "8.1213E-6" "02330" "WNK1_000127" "g.990007C>G" "" "" "" "WNK1(NM_001184985.2):c.3733C>G (p.L1245V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863162" "0" "30" "12" "990848" "990848" "subst" "0.000978815" "02326" "WNK1_000121" "g.990848C>T" "" "" "" "WNK1(NM_001184985.1):c.3892-10C>T, WNK1(NM_001184985.2):c.3892-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890224" "0" "30" "12" "1003812" "1003812" "subst" "1.62513E-5" "02330" "WNK1_000136" "g.1003812C>A" "" "" "" "WNK1(NM_001184985.2):c.6363+11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890225" "0" "30" "12" "1005504" "1005504" "subst" "0.000138165" "02326" "WNK1_000137" "g.1005504A>G" "" "" "" "WNK1(NM_001184985.1):c.6631A>G (p.T2211A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890226" "0" "30" "12" "1005644" "1005644" "subst" "0.00199185" "02326" "WNK1_000053" "g.1005644G>A" "" "" "" "WNK1(NM_001184985.1):c.6771G>A (p.E2257=), WNK1(NM_001184985.2):c.6771G>A (p.E2257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890227" "0" "30" "12" "1009854" "1009854" "subst" "0.000987781" "02326" "WNK1_000102" "g.1009854A>G" "" "" "" "WNK1(NM_001184985.1):c.7423+18A>G, WNK1(NM_001184985.2):c.7423+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890802" "0" "30" "12" "862723" "862723" "subst" "8.41829E-6" "02330" "WNK1_000129" "g.862723G>T" "" "" "" "WNK1(NM_001184985.2):c.-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890803" "0" "10" "12" "863177" "863177" "subst" "0.00324818" "02330" "WNK1_000130" "g.863177C>T" "" "" "" "WNK1(NM_001184985.1):c.446C>T (p.A149V), WNK1(NM_001184985.2):c.446C>T (p.A149V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890804" "0" "10" "12" "863177" "863177" "subst" "0.00324818" "02326" "WNK1_000130" "g.863177C>T" "" "" "" "WNK1(NM_001184985.1):c.446C>T (p.A149V), WNK1(NM_001184985.2):c.446C>T (p.A149V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890805" "0" "30" "12" "863309" "863309" "subst" "0.000494096" "02326" "WNK1_000131" "g.863309C>A" "" "" "" "WNK1(NM_001184985.1):c.578C>A (p.P193Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890841" "0" "30" "12" "971317" "971317" "subst" "0.00226698" "02326" "WNK1_000105" "g.971317A>G" "" "" "" "WNK1(NM_001184985.1):c.2020A>G (p.T674A), WNK1(NM_001184985.2):c.2020A>G (p.T674A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890842" "0" "10" "12" "974291" "974291" "subst" "0.000915487" "02326" "WNK1_000107" "g.974291A>G" "" "" "" "WNK1(NM_213655.4):c.2155A>G (p.S719G), WNK1(NM_213655.5):c.2155A>G (p.S719G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890843" "0" "50" "12" "977290" "977290" "subst" "4.0621E-5" "02330" "WNK1_000132" "g.977290G>T" "" "" "" "WNK1(NM_001184985.2):c.2398G>T (p.V800F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890844" "0" "30" "12" "987416" "987416" "subst" "0" "02326" "WNK1_000133" "g.987416A>C" "" "" "" "WNK1(NM_001184985.1):c.3501A>C (p.T1167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890845" "0" "30" "12" "988855" "988855" "subst" "0.00180332" "02326" "WNK1_000089" "g.988855G>A" "" "" "" "WNK1(NM_018979.4):c.2490G>A (p.P830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890846" "0" "30" "12" "992925" "992925" "subst" "0.000629616" "02326" "WNK1_000076" "g.992925T>A" "" "" "" "WNK1(NM_001184985.1):c.4444-15T>A, WNK1(NM_001184985.2):c.4444-15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890847" "0" "30" "12" "994324" "994324" "subst" "0.00221971" "02326" "WNK1_000095" "g.994324A>G" "" "" "" "WNK1(NM_001184985.1):c.5134A>G (p.T1712A), WNK1(NM_001184985.2):c.5134A>G (p.T1712A), WNK1(NM_018979.4):c.4354A>G (p.(Thr1452Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890848" "0" "30" "12" "994953" "994953" "subst" "0.00223038" "02326" "WNK1_000046" "g.994953T>C" "" "" "" "WNK1(NM_001184985.1):c.5763T>C (p.S1921=), WNK1(NM_001184985.2):c.5763T>C (p.S1921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890849" "0" "30" "12" "996373" "996373" "subst" "0" "02330" "WNK1_000134" "g.996373T>A" "" "" "" "WNK1(NM_018979.4):c.5281-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890850" "0" "10" "12" "996390" "996390" "subst" "0.000276151" "02330" "WNK1_000135" "g.996390C>T" "" "" "" "WNK1(NM_001184985.2):c.6064C>T (p.L2022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913729" "0" "30" "12" "1017830" "1017830" "subst" "0.00045487" "02326" "RAD52_000006" "g.1017830G>A" "" "" "" "WNK1(NM_001184985.1):c.7801G>A (p.G2601S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913968" "0" "50" "12" "987448" "987448" "subst" "4.06111E-6" "02330" "WNK1_000138" "g.987448C>G" "" "" "" "WNK1(NM_001184985.2):c.3533C>G (p.S1178C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913969" "0" "30" "12" "989029" "989029" "subst" "0.000105608" "02330" "WNK1_000139" "g.989029A>G" "" "" "" "WNK1(NM_018979.4):c.2664A>G (p.V888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913970" "0" "30" "12" "990848" "990848" "subst" "0.000978815" "02330" "WNK1_000121" "g.990848C>T" "" "" "" "WNK1(NM_001184985.1):c.3892-10C>T, WNK1(NM_001184985.2):c.3892-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925708" "0" "10" "12" "974355" "974355" "subst" "7.79885E-6" "02326" "WNK1_000140" "g.974355T>C" "" "" "" "WNK1(NM_213655.4):c.2219T>C (p.L740P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925709" "0" "10" "12" "974356" "974356" "dup" "0" "02326" "WNK1_000083" "g.974356dup" "" "" "" "WNK1(NM_213655.4):c.2220dupC (p.F741Lfs*30), WNK1(NM_213655.5):c.2220dupC (p.F741Lfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930163" "0" "30" "12" "939212" "939212" "subst" "2.43635E-5" "02326" "WNK1_000141" "g.939212T>C" "" "" "" "WNK1(NM_001184985.1):c.1197T>C (p.Y399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936407" "0" "50" "12" "977606" "977606" "subst" "1.21916E-5" "00006" "WNK1_000142" "g.977606C>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_213655:c.C2969A (A990D)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000950048" "0" "30" "12" "988824" "988824" "subst" "0.00018681" "02326" "WNK1_000143" "g.988824C>G" "" "" "" "WNK1(NM_018979.4):c.2459C>G (p.S820C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979954" "0" "50" "12" "1005742" "1005742" "subst" "3.2551E-5" "01804" "WNK1_000144" "g.1005742C>G" "" "" "" "WNK1(NM_018979.4):c.6089C>G (p.(Pro2030Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980518" "0" "30" "12" "971349" "971349" "subst" "0.000816675" "02326" "WNK1_000106" "g.971349A>G" "" "" "" "WNK1(NM_001184985.1):c.2052A>G (p.A684=), WNK1(NM_001184985.2):c.2052A>G (p.A684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980519" "0" "30" "12" "987490" "987490" "subst" "0.000759527" "02326" "WNK1_000042" "g.987490C>T" "" "" "" "WNK1(NM_001184985.1):c.3575C>T (p.A1192V), WNK1(NM_001184985.2):c.3575C>T (p.A1192V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980523" "0" "30" "12" "994324" "994324" "subst" "0.00221971" "01804" "WNK1_000095" "g.994324A>G" "" "" "" "WNK1(NM_001184985.1):c.5134A>G (p.T1712A), WNK1(NM_001184985.2):c.5134A>G (p.T1712A), WNK1(NM_018979.4):c.4354A>G (p.(Thr1452Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000375" "0" "30" "12" "988859" "988859" "subst" "0" "01804" "WNK1_000145" "g.988859C>G" "" "" "" "WNK1(NM_018979.3):c.2494C>G (p.(Pro832Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000379" "0" "30" "12" "994334" "994334" "subst" "2.44451E-5" "01804" "WNK1_000146" "g.994334C>T" "" "" "" "WNK1(NM_018979.3):c.4364C>T (p.(Ala1455Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000380" "0" "30" "12" "994862" "994862" "subst" "0" "01804" "WNK1_000147" "g.994862C>T" "" "" "" "WNK1(NM_018979.3):c.4892C>T (p.(Pro1631Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014889" "0" "30" "12" "1003804" "1003804" "subst" "0.000767787" "02326" "WNK1_000051" "g.1003804A>G" "" "" "" "WNK1(NM_001184985.1):c.6363+3A>G, WNK1(NM_001184985.2):c.6363+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015022" "0" "30" "12" "936382" "936382" "subst" "1.21875E-5" "02330" "WNK1_000148" "g.936382C>T" "" "" "" "WNK1(NM_001184985.2):c.1107C>T (p.L369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038870" "0" "50" "12" "1017867" "1017867" "subst" "3.24894E-5" "01804" "RAD52_000007" "g.1017867C>A" "" "" "" "WNK1(NM_018979.4):c.7058C>A (p.(Pro2353His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 WNK1 ## Count = 428 "{{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}}" "0000064604" "00022847" "50" "6448" "38" "6448" "38" "c.6448+38A>G" "r.(=)" "p.(=)" "" "0000064605" "00022847" "10" "759" "16" "759" "18" "c.759+16_759+18dup" "r.(=)" "p.(=)" "" "0000064606" "00022847" "10" "6828" "0" "6828" "0" "c.6828C>T" "r.(=)" "p.(=)" "" "0000064607" "00022847" "10" "1287" "0" "1287" "0" "c.1287A>G" "r.(=)" "p.(=)" "" "0000064608" "00022847" "10" "5584" "-75" "5584" "-75" "c.5584-75T>C" "r.(=)" "p.(=)" "" "0000064609" "00022847" "10" "3209" "54" "3209" "54" "c.3209+54C>T" "r.(=)" "p.(=)" "" "0000064610" "00022847" "10" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Thr665Ile)" "" "0000064611" "00022847" "10" "5583" "36" "5583" "36" "c.5583+36C>T" "r.(=)" "p.(=)" "" "0000064612" "00022847" "50" "7119" "0" "7119" "0" "c.7119C>T" "r.(=)" "p.(=)" "" "0000064613" "00022847" "10" "759" "27" "759" "27" "c.759+27G>A" "r.(=)" "p.(=)" "" "0000064614" "00022847" "10" "4044" "0" "4044" "0" "c.4044C>T" "r.(=)" "p.(=)" "" "0000064615" "00022847" "10" "2529" "0" "2529" "0" "c.2529G>A" "r.(=)" "p.(=)" "" "0000064616" "00022847" "10" "5424" "0" "5424" "0" "c.5424G>T" "r.(?)" "p.(Met1808Ile)" "" "0000064617" "00022847" "10" "1153" "40" "1153" "40" "c.1153+40C>G" "r.(=)" "p.(=)" "" "0000064618" "00022847" "10" "2328" "0" "2328" "0" "c.2328G>A" "r.(=)" "p.(=)" "" "0000064619" "00022847" "10" "5280" "49" "5280" "49" "c.5280+49dup" "r.(=)" "p.(=)" "" "0000064620" "00022847" "10" "258" "0" "258" "0" "c.258T>C" "r.(=)" "p.(=)" "" "0000064621" "00022847" "10" "3166" "0" "3166" "0" "c.3166A>C" "r.(?)" "p.(Thr1056Pro)" "" "0000064622" "00022847" "10" "3489" "4" "3489" "4" "c.3489+4C>T" "r.spl?" "p.(=)" "" "0000064623" "00022847" "10" "3960" "0" "3960" "0" "c.3960C>T" "r.(=)" "p.(=)" "" "0000064624" "00022847" "10" "4517" "0" "4517" "0" "c.4517G>C" "r.(?)" "p.(Cys1506Ser)" "" "0000064625" "00022847" "10" "5281" "-30" "5281" "-30" "c.5281-30C>T" "r.(=)" "p.(=)" "" "0000247094" "00022847" "10" "1287" "0" "1287" "0" "c.1287A>G" "r.(?)" "p.(Ala429=)" "" "0000247094" "00025466" "10" "1287" "0" "1287" "0" "c.1287A>G" "r.(?)" "p.(Ala429=)" "" "0000247098" "00022847" "10" "3166" "0" "3166" "0" "c.3166A>C" "r.(?)" "p.(Thr1056Pro)" "" "0000247098" "00025466" "10" "3922" "0" "3922" "0" "c.3922A>C" "r.(?)" "p.(Thr1308Pro)" "" "0000247124" "00022847" "10" "3030" "0" "3030" "0" "c.3030A>T" "r.(?)" "p.(Val1010=)" "" "0000247124" "00025466" "10" "3868" "-774" "3868" "-774" "c.3868-774A>T" "r.(=)" "p.(=)" "" "0000247129" "00022847" "10" "1748" "0" "1748" "0" "c.1748del" "r.(?)" "p.(Lys583SerfsTer11)" "" "0000247129" "00025466" "10" "1748" "0" "1748" "0" "c.1748del" "r.(?)" "p.(Lys583SerfsTer11)" "" "0000247156" "00022847" "10" "759" "15" "759" "15" "c.759+15A>C" "r.(=)" "p.(=)" "" "0000247156" "00025466" "10" "759" "15" "759" "15" "c.759+15A>C" "r.(=)" "p.(=)" "" "0000247163" "00022847" "30" "2139" "2925" "2139" "2925" "c.2139+2925A>C" "r.(=)" "p.(=)" "" "0000247163" "00025466" "30" "2225" "0" "2225" "0" "c.2225A>C" "r.(?)" "p.(His742Pro)" "" "0000247167" "00022847" "30" "5583" "3" "5583" "3" "c.5583+3A>G" "r.spl?" "p.?" "" "0000247167" "00025466" "30" "6339" "3" "6339" "3" "c.6339+3A>G" "r.spl?" "p.?" "" "0000247183" "00022847" "50" "2140" "-2468" "2140" "-2468" "c.2140-2468A>T" "r.(=)" "p.(=)" "" "0000247183" "00025466" "50" "3326" "0" "3326" "0" "c.3326A>T" "r.(?)" "p.(Asn1109Ile)" "" "0000248373" "00022847" "10" "1287" "0" "1287" "0" "c.1287A>G" "r.(?)" "p.(Ala429=)" "" "0000248373" "00025466" "10" "1287" "0" "1287" "0" "c.1287A>G" "r.(?)" "p.(Ala429=)" "" "0000248416" "00022847" "10" "3166" "0" "3166" "0" "c.3166A>C" "r.(?)" "p.(Thr1056Pro)" "" "0000248416" "00025466" "10" "3922" "0" "3922" "0" "c.3922A>C" "r.(?)" "p.(Thr1308Pro)" "" "0000311374" "00022847" "10" "-91" "0" "-91" "0" "c.-91T>G" "r.(?)" "p.(=)" "" "0000311374" "00025466" "10" "-91" "0" "-91" "0" "c.-91T>G" "r.(?)" "p.(=)" "" "0000311375" "00022847" "10" "9135" "0" "9135" "0" "c.*1986G>A" "r.(=)" "p.(=)" "" "0000311375" "00025466" "10" "9891" "0" "9891" "0" "c.*1986G>A" "r.(=)" "p.(=)" "" "0000311376" "00022847" "10" "9457" "0" "9457" "0" "c.*2308T>C" "r.(=)" "p.(=)" "" "0000311376" "00025466" "10" "10213" "0" "10213" "0" "c.*2308T>C" "r.(=)" "p.(=)" "" "0000311377" "00022847" "10" "1401" "-11" "1401" "-11" "c.1401-11C>A" "r.(=)" "p.(=)" "" "0000311377" "00025466" "10" "1401" "-11" "1401" "-11" "c.1401-11C>A" "r.(=)" "p.(=)" "" "0000311378" "00022847" "10" "1479" "0" "1479" "0" "c.1479T>C" "r.(?)" "p.(Asp493=)" "" "0000311378" "00025466" "10" "1479" "0" "1479" "0" "c.1479T>C" "r.(?)" "p.(Asp493=)" "" "0000311379" "00022847" "10" "1526" "0" "1526" "0" "c.1526T>C" "r.(?)" "p.(Ile509Thr)" "" "0000311379" "00025466" "10" "1526" "0" "1526" "0" "c.1526T>C" "r.(?)" "p.(Ile509Thr)" "" "0000311381" "00022847" "10" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Thr665Ile)" "" "0000311381" "00025466" "10" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Thr665Ile)" "" "0000311382" "00022847" "10" "2081" "0" "2081" "0" "c.2081T>C" "r.(?)" "p.(Ile694Thr)" "" "0000311382" "00025466" "10" "2081" "0" "2081" "0" "c.2081T>C" "r.(?)" "p.(Ile694Thr)" "" "0000311383" "00022847" "50" "2139" "2846" "2139" "2846" "c.2139+2846C>T" "r.(=)" "p.(=)" "" "0000311383" "00025466" "50" "2146" "0" "2146" "0" "c.2146C>T" "r.(?)" "p.(Arg716Cys)" "" "0000311385" "00022847" "10" "2139" "2890" "2139" "2890" "c.2139+2890G>C" "r.(=)" "p.(=)" "" "0000311385" "00025466" "10" "2190" "0" "2190" "0" "c.2190G>C" "r.(?)" "p.(Leu730Phe)" "" "0000311387" "00022847" "10" "2139" "2968" "2139" "2968" "c.2139+2968T>C" "r.(=)" "p.(=)" "" "0000311387" "00025466" "10" "2268" "0" "2268" "0" "c.2268T>C" "r.(?)" "p.(Pro756=)" "" "0000311388" "00022847" "90" "2140" "-3219" "2140" "-3219" "c.2140-3219C>T" "r.(=)" "p.(=)" "" "0000311388" "00025466" "90" "2575" "0" "2575" "0" "c.2575C>T" "r.(?)" "p.(Gln859Ter)" "" "0000311389" "00022847" "10" "2529" "0" "2529" "0" "c.2529G>A" "r.(?)" "p.(Gln843=)" "" "0000311389" "00025466" "10" "3867" "1367" "3867" "1367" "c.3867+1367G>A" "r.(=)" "p.(=)" "" "0000311390" "00022847" "10" "258" "0" "258" "0" "c.258T>C" "r.(?)" "p.(Cys86=)" "" "0000311390" "00025466" "10" "258" "0" "258" "0" "c.258T>C" "r.(?)" "p.(Cys86=)" "" "0000311391" "00022847" "90" "2140" "-2886" "2140" "-2886" "c.2140-2886C>T" "r.(=)" "p.(=)" "" "0000311391" "00025466" "90" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Gln970Ter)" "" "0000311392" "00022847" "50" "2140" "-2687" "2140" "-2687" "c.2140-2687C>T" "r.(=)" "p.(=)" "" "0000311392" "00025466" "50" "3107" "0" "3107" "0" "c.3107C>T" "r.(?)" "p.(Ala1036Val)" "" "0000311393" "00022847" "90" "2140" "-2568" "2140" "-2568" "c.2140-2568C>T" "r.(=)" "p.(=)" "" "0000311393" "00025466" "90" "3226" "0" "3226" "0" "c.3226C>T" "r.(?)" "p.(Arg1076Ter)" "" "0000311394" "00022847" "90" "2140" "-2518" "2140" "-2518" "c.2140-2518dup" "r.(=)" "p.(=)" "" "0000311394" "00025466" "90" "3276" "0" "3276" "0" "c.3276dup" "r.(?)" "p.(Ser1093IlefsTer13)" "" "0000311395" "00022847" "90" "2140" "-2493" "2140" "-2493" "c.2140-2493C>T" "r.(=)" "p.(=)" "" "0000311395" "00025466" "90" "3301" "0" "3301" "0" "c.3301C>T" "r.(?)" "p.(Gln1101Ter)" "" "0000311396" "00022847" "50" "2140" "-2466" "2140" "-2466" "c.2140-2466T>A" "r.(=)" "p.(=)" "" "0000311396" "00025466" "50" "3328" "0" "3328" "0" "c.3328T>A" "r.(?)" "p.(Tyr1110Asn)" "" "0000311397" "00022847" "90" "2140" "-2347" "2140" "-2347" "c.2140-2347dup" "r.(=)" "p.(=)" "" "0000311397" "00025466" "90" "3447" "0" "3447" "0" "c.3447dup" "r.(?)" "p.(Gln1150SerfsTer16)" "" "0000311398" "00022847" "90" "2140" "-2302" "2140" "-2302" "c.2140-2302dup" "r.(=)" "p.(=)" "" "0000311398" "00025466" "90" "3492" "0" "3492" "0" "c.3492dup" "r.(?)" "p.(Asp1165Ter)" "" "0000311399" "00022847" "10" "2328" "0" "2328" "0" "c.2328G>A" "r.(?)" "p.(Gln776=)" "" "0000311399" "00025466" "10" "3822" "0" "3822" "0" "c.3822G>A" "r.(?)" "p.(Gln1274=)" "" "0000311400" "00022847" "30" "2336" "0" "2336" "0" "c.2336C>T" "r.(?)" "p.(Ala779Val)" "" "0000311400" "00025466" "30" "3830" "0" "3830" "0" "c.3830C>T" "r.(?)" "p.(Ala1277Val)" "" "0000311403" "00022847" "10" "2373" "21" "2373" "21" "c.2373+21del" "r.(=)" "p.(=)" "" "0000311403" "00025466" "10" "3867" "21" "3867" "21" "c.3867+21del" "r.(=)" "p.(=)" "" "0000311404" "00022847" "50" "3029" "0" "3029" "0" "c.3029T>G" "r.(?)" "p.(Val1010Gly)" "" "0000311404" "00025466" "50" "3868" "-775" "3868" "-775" "c.3868-775T>G" "r.(=)" "p.(=)" "" "0000311405" "00022847" "10" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Ala141Thr)" "" "0000311405" "00025466" "10" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Ala141Thr)" "" "0000311406" "00022847" "10" "3490" "-5" "3490" "-5" "c.3490-5T>A" "r.spl?" "p.?" "" "0000311406" "00025466" "10" "4246" "-5" "4246" "-5" "c.4246-5T>A" "r.spl?" "p.?" "" "0000311407" "00022847" "50" "3578" "0" "3578" "0" "c.3578G>A" "r.(?)" "p.(Ser1193Asn)" "" "0000311407" "00025466" "50" "4334" "0" "4334" "0" "c.4334G>A" "r.(?)" "p.(Ser1445Asn)" "" "0000311408" "00022847" "10" "3664" "-15" "3664" "-15" "c.3664-15T>A" "r.(=)" "p.(=)" "" "0000311408" "00025466" "10" "4420" "-15" "4420" "-15" "c.4420-15T>A" "r.(=)" "p.(=)" "" "0000311409" "00022847" "10" "3960" "0" "3960" "0" "c.3960C>T" "r.(?)" "p.(Asn1320=)" "" "0000311409" "00025466" "10" "4716" "0" "4716" "0" "c.4716C>T" "r.(?)" "p.(Asn1572=)" "" "0000311410" "00022847" "10" "4044" "0" "4044" "0" "c.4044C>T" "r.(?)" "p.(Thr1348=)" "" "0000311410" "00025466" "10" "4800" "0" "4800" "0" "c.4800C>T" "r.(?)" "p.(Thr1600=)" "" "0000311411" "00022847" "10" "4517" "0" "4517" "0" "c.4517G>C" "r.(?)" "p.(Cys1506Ser)" "" "0000311411" "00025466" "10" "5273" "0" "5273" "0" "c.5273G>C" "r.(?)" "p.(Cys1758Ser)" "" "0000311412" "00022847" "10" "4983" "0" "4983" "0" "c.4983T>C" "r.(?)" "p.(Ser1661=)" "" "0000311412" "00025466" "10" "5739" "0" "5739" "0" "c.5739T>C" "r.(?)" "p.(Ser1913=)" "" "0000311413" "00022847" "10" "5281" "-4" "5281" "-4" "c.5281-4G>A" "r.spl?" "p.?" "" "0000311413" "00025466" "10" "6037" "-4" "6037" "-4" "c.6037-4G>A" "r.spl?" "p.?" "" "0000311414" "00022847" "30" "5468" "0" "5468" "0" "c.5468C>T" "r.(?)" "p.(Pro1823Leu)" "" "0000311414" "00025466" "30" "6224" "0" "6224" "0" "c.6224C>T" "r.(?)" "p.(Pro2075Leu)" "" "0000311415" "00022847" "50" "5869" "0" "5869" "0" "c.5869C>T" "r.(?)" "p.(Arg1957Cys)" "" "0000311415" "00025466" "50" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Arg2209Cys)" "" "0000311416" "00022847" "10" "5991" "0" "5991" "0" "c.5991G>A" "r.(?)" "p.(Glu1997=)" "" "0000311416" "00025466" "10" "6747" "0" "6747" "0" "c.6747G>A" "r.(?)" "p.(Glu2249=)" "" "0000311418" "00022847" "10" "6828" "0" "6828" "0" "c.6828C>T" "r.(?)" "p.(Tyr2276=)" "" "0000311418" "00025466" "10" "7584" "0" "7584" "0" "c.7584C>T" "r.(?)" "p.(Tyr2528=)" "" "0000313090" "00022847" "10" "1153" "40" "1153" "40" "c.1153+40C>G" "r.(=)" "p.(=)" "" "0000313090" "00025466" "10" "1153" "40" "1153" "40" "c.1153+40C>G" "r.(=)" "p.(=)" "" "0000313091" "00022847" "10" "2139" "2875" "2139" "2875" "c.2139+2875dup" "r.(=)" "p.(=)" "" "0000313091" "00025466" "10" "2175" "0" "2175" "0" "c.2175dup" "r.(?)" "p.(Ile726HisfsTer45)" "" "0000313092" "00022847" "10" "258" "0" "258" "0" "c.258T>C" "r.(?)" "p.(Cys86=)" "" "0000313092" "00025466" "10" "258" "0" "258" "0" "c.258T>C" "r.(?)" "p.(Cys86=)" "" "0000313093" "00022847" "10" "2328" "0" "2328" "0" "c.2328G>A" "r.(?)" "p.(Gln776=)" "" "0000313093" "00025466" "10" "3822" "0" "3822" "0" "c.3822G>A" "r.(?)" "p.(Gln1274=)" "" "0000313094" "00022847" "10" "3960" "0" "3960" "0" "c.3960C>T" "r.(?)" "p.(Asn1320=)" "" "0000313094" "00025466" "10" "4716" "0" "4716" "0" "c.4716C>T" "r.(?)" "p.(Asn1572=)" "" "0000313095" "00022847" "10" "4517" "0" "4517" "0" "c.4517G>C" "r.(?)" "p.(Cys1506Ser)" "" "0000313095" "00025466" "10" "5273" "0" "5273" "0" "c.5273G>C" "r.(?)" "p.(Cys1758Ser)" "" "0000313096" "00022847" "10" "6828" "0" "6828" "0" "c.6828C>T" "r.(?)" "p.(Tyr2276=)" "" "0000313096" "00025466" "10" "7584" "0" "7584" "0" "c.7584C>T" "r.(?)" "p.(Tyr2528=)" "" "0000315401" "00022847" "30" "1401" "-9" "1401" "-9" "c.1401-9G>T" "r.(=)" "p.(=)" "" "0000315401" "00025466" "30" "1401" "-9" "1401" "-9" "c.1401-9G>T" "r.(=)" "p.(=)" "" "0000315402" "00022847" "30" "2374" "-14" "2374" "-14" "c.2374-14C>T" "r.(=)" "p.(=)" "" "0000315402" "00025466" "30" "3867" "1198" "3867" "1198" "c.3867+1198C>T" "r.(=)" "p.(=)" "" "0000315404" "00022847" "10" "2373" "21" "2373" "21" "c.2373+21del" "r.(=)" "p.(=)" "" "0000315404" "00025466" "10" "3867" "21" "3867" "21" "c.3867+21del" "r.(=)" "p.(=)" "" "0000315405" "00022847" "10" "5468" "0" "5468" "0" "c.5468C>T" "r.(?)" "p.(Pro1823Leu)" "" "0000315405" "00025466" "10" "6224" "0" "6224" "0" "c.6224C>T" "r.(?)" "p.(Pro2075Leu)" "" "0000315406" "00022847" "30" "5542" "0" "5550" "0" "c.5542_5550del" "r.(?)" "p.(Thr1848_Ser1850del)" "" "0000315406" "00025466" "30" "6298" "0" "6306" "0" "c.6298_6306del" "r.(?)" "p.(Thr2100_Ser2102del)" "" "0000319986" "00022847" "30" "4983" "0" "4983" "0" "c.4983T>C" "r.(?)" "p.(Ser1661=)" "" "0000319986" "00025466" "30" "5739" "0" "5739" "0" "c.5739T>C" "r.(?)" "p.(Ser1913=)" "" "0000319987" "00022847" "50" "5279" "0" "5279" "0" "c.5279C>T" "r.(?)" "p.(Pro1760Leu)" "" "0000319987" "00025466" "50" "6035" "0" "6035" "0" "c.6035C>T" "r.(?)" "p.(Pro2012Leu)" "" "0000319988" "00022847" "30" "5542" "0" "5550" "0" "c.5542_5550del" "r.(?)" "p.(Thr1848_Ser1850del)" "" "0000319988" "00025466" "30" "6298" "0" "6306" "0" "c.6298_6306del" "r.(?)" "p.(Thr2100_Ser2102del)" "" "0000338829" "00022847" "10" "-91" "0" "-91" "0" "c.-91T>G" "r.(?)" "p.(=)" "" "0000338829" "00025466" "10" "-91" "0" "-91" "0" "c.-91T>G" "r.(?)" "p.(=)" "" "0000338952" "00022847" "10" "1401" "-11" "1401" "-11" "c.1401-11C>A" "r.(=)" "p.(=)" "" "0000338952" "00025466" "10" "1401" "-11" "1401" "-11" "c.1401-11C>A" "r.(=)" "p.(=)" "" "0000338959" "00022847" "10" "3489" "4" "3489" "4" "c.3489+4C>T" "r.spl?" "p.?" "" "0000338959" "00025466" "10" "4245" "4" "4245" "4" "c.4245+4C>T" "r.spl?" "p.?" "" "0000339214" "00022847" "10" "6828" "0" "6828" "0" "c.6828C>T" "r.(?)" "p.(Tyr2276=)" "" "0000339214" "00025466" "10" "7584" "0" "7584" "0" "c.7584C>T" "r.(?)" "p.(Tyr2528=)" "" "0000340499" "00022847" "10" "258" "0" "258" "0" "c.258T>C" "r.(?)" "p.(Cys86=)" "" "0000340499" "00025466" "10" "258" "0" "258" "0" "c.258T>C" "r.(?)" "p.(Cys86=)" "" "0000340567" "00022847" "10" "1287" "0" "1287" "0" "c.1287A>G" "r.(?)" "p.(Ala429=)" "" "0000340567" "00025466" "10" "1287" "0" "1287" "0" "c.1287A>G" "r.(?)" "p.(Ala429=)" "" "0000340594" "00022847" "10" "1479" "0" "1479" "0" "c.1479T>C" "r.(?)" "p.(Asp493=)" "" "0000340594" "00025466" "10" "1479" "0" "1479" "0" "c.1479T>C" "r.(?)" "p.(Asp493=)" "" "0000340596" "00022847" "10" "2328" "0" "2328" "0" "c.2328G>A" "r.(?)" "p.(Gln776=)" "" "0000340596" "00025466" "10" "3822" "0" "3822" "0" "c.3822G>A" "r.(?)" "p.(Gln1274=)" "" "0000340599" "00022847" "10" "3960" "0" "3960" "0" "c.3960C>T" "r.(?)" "p.(Asn1320=)" "" "0000340599" "00025466" "10" "4716" "0" "4716" "0" "c.4716C>T" "r.(?)" "p.(Asn1572=)" "" "0000340600" "00022847" "10" "4044" "0" "4044" "0" "c.4044C>T" "r.(?)" "p.(Thr1348=)" "" "0000340600" "00025466" "10" "4800" "0" "4800" "0" "c.4800C>T" "r.(?)" "p.(Thr1600=)" "" "0000343432" "00022847" "50" "2140" "-2961" "2140" "-2961" "c.2140-2961C>T" "r.(=)" "p.(=)" "" "0000343432" "00025466" "50" "2833" "0" "2833" "0" "c.2833C>T" "r.(?)" "p.(Arg945Trp)" "" "0000344290" "00022847" "10" "4517" "0" "4517" "0" "c.4517G>C" "r.(?)" "p.(Cys1506Ser)" "" "0000344290" "00025466" "10" "5273" "0" "5273" "0" "c.5273G>C" "r.(?)" "p.(Cys1758Ser)" "" "0000347771" "00022847" "10" "5424" "0" "5424" "0" "c.5424G>T" "r.(?)" "p.(Met1808Ile)" "" "0000347771" "00025466" "10" "6180" "0" "6180" "0" "c.6180G>T" "r.(?)" "p.(Met2060Ile)" "" "0000349273" "00022847" "10" "3166" "0" "3166" "0" "c.3166A>C" "r.(?)" "p.(Thr1056Pro)" "" "0000349273" "00025466" "10" "3922" "0" "3922" "0" "c.3922A>C" "r.(?)" "p.(Thr1308Pro)" "" "0000349595" "00022847" "10" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Thr665Ile)" "" "0000349595" "00025466" "10" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Thr665Ile)" "" "0000351653" "00022847" "90" "1591" "0" "1592" "0" "c.1591_1592del" "r.(?)" "p.(Asp531Cysfs*17)" "6" "0000351654" "00022847" "90" "1824" "0" "1824" "0" "c.1824dup" "r.(?)" "p.(Ala609Cysfs*2)" "7" "0000351655" "00022847" "90" "3166" "0" "3166" "0" "c.3166C>A" "r.(?)" "p.(Pro1056Thr)" "13" "0000546179" "00022847" "10" "5542" "0" "5550" "0" "c.5542_5550del" "r.(?)" "p.(Thr1848_Ser1850del)" "" "0000546179" "00025466" "10" "6298" "0" "6306" "0" "c.6298_6306del" "r.(?)" "p.(Thr2100_Ser2102del)" "" "0000546181" "00022847" "30" "6090" "0" "6090" "0" "c.6090A>G" "r.(?)" "p.(Pro2030=)" "" "0000546181" "00025466" "30" "6846" "0" "6846" "0" "c.6846A>G" "r.(?)" "p.(Pro2282=)" "" "0000546182" "00022847" "30" "6150" "0" "6150" "0" "c.6150T>C" "r.(?)" "p.(Leu2050=)" "" "0000546182" "00025466" "30" "6906" "0" "6906" "0" "c.6906T>C" "r.(?)" "p.(Leu2302=)" "" "0000546188" "00022847" "50" "6547" "0" "6547" "0" "c.6547C>A" "r.(?)" "p.(Gln2183Lys)" "" "0000546188" "00025466" "50" "7303" "0" "7303" "0" "c.7303C>A" "r.(?)" "p.(Gln2435Lys)" "" "0000546189" "00022847" "30" "6643" "18" "6643" "18" "c.6643+18A>G" "r.(=)" "p.(=)" "" "0000546189" "00025466" "30" "7399" "18" "7399" "18" "c.7399+18A>G" "r.(=)" "p.(=)" "" "0000546192" "00022847" "50" "6935" "0" "6935" "0" "c.6935C>G" "r.(?)" "p.(Ser2312Cys)" "" "0000546192" "00025466" "50" "7691" "0" "7691" "0" "c.7691C>G" "r.(?)" "p.(Ser2564Cys)" "" "0000549283" "00022847" "10" "684" "0" "684" "0" "c.684C>T" "r.(?)" "p.(Gly228=)" "" "0000549283" "00025466" "10" "684" "0" "684" "0" "c.684C>T" "r.(?)" "p.(Gly228=)" "" "0000549284" "00022847" "10" "759" "16" "759" "18" "c.759+16_759+18dup" "r.(=)" "p.(=)" "" "0000549284" "00025466" "10" "759" "16" "759" "18" "c.759+16_759+18dup" "r.(=)" "p.(=)" "" "0000549533" "00022847" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Thr358=)" "" "0000549533" "00025466" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Thr358=)" "" "0000549553" "00022847" "10" "1512" "0" "1512" "0" "c.1512A>G" "r.(?)" "p.(Leu504=)" "" "0000549553" "00025466" "10" "1512" "0" "1512" "0" "c.1512A>G" "r.(?)" "p.(Leu504=)" "" "0000549554" "00022847" "30" "1748" "0" "1748" "0" "c.1748dup" "r.(?)" "p.(Gln584AlafsTer27)" "" "0000549554" "00025466" "30" "1748" "0" "1748" "0" "c.1748dup" "r.(?)" "p.(Gln584AlafsTer27)" "" "0000549555" "00022847" "50" "1855" "0" "1855" "0" "c.1855A>G" "r.(?)" "p.(Thr619Ala)" "" "0000549555" "00025466" "50" "1855" "0" "1855" "0" "c.1855A>G" "r.(?)" "p.(Thr619Ala)" "" "0000549557" "00022847" "30" "1977" "0" "1977" "0" "c.1977G>A" "r.(?)" "p.(Gln659=)" "" "0000549557" "00025466" "30" "1977" "0" "1977" "0" "c.1977G>A" "r.(?)" "p.(Gln659=)" "" "0000549559" "00022847" "10" "2139" "2875" "2139" "2875" "c.2139+2875dup" "r.(=)" "p.(=)" "" "0000549559" "00025466" "10" "2175" "0" "2175" "0" "c.2175dup" "r.(?)" "p.(Ile726HisfsTer45)" "" "0000549560" "00022847" "10" "2139" "2875" "2139" "2875" "c.2139+2875dup" "r.(=)" "p.(=)" "" "0000549560" "00025466" "10" "2175" "0" "2175" "0" "c.2175dup" "r.(?)" "p.(Ile726HisfsTer45)" "" "0000549561" "00022847" "10" "2139" "2920" "2139" "2920" "c.2139+2920dup" "r.(=)" "p.(=)" "" "0000549561" "00025466" "10" "2220" "0" "2220" "0" "c.2220dup" "r.(?)" "p.(Phe741LeufsTer30)" "" "0000549562" "00022847" "10" "2139" "2920" "2139" "2920" "c.2139+2920dup" "r.(=)" "p.(=)" "" "0000549562" "00025466" "10" "2220" "0" "2220" "0" "c.2220dup" "r.(?)" "p.(Phe741LeufsTer30)" "" "0000549563" "00022847" "50" "2139" "3018" "2139" "3018" "c.2139+3018A>C" "r.(=)" "p.(=)" "" "0000549563" "00025466" "50" "2318" "0" "2318" "0" "c.2318A>C" "r.(?)" "p.(Glu773Ala)" "" "0000549564" "00022847" "50" "2139" "3062" "2139" "3062" "c.2139+3062C>T" "r.(=)" "p.(=)" "" "0000549564" "00025466" "50" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Cys)" "" "0000549565" "00022847" "50" "2140" "-3390" "2140" "-3390" "c.2140-3390A>G" "r.(=)" "p.(=)" "" "0000549565" "00025466" "50" "2404" "0" "2404" "0" "c.2404A>G" "r.(?)" "p.(Met802Val)" "" "0000549566" "00022847" "10" "2373" "20" "2373" "21" "c.2373+20_2373+21dup" "r.(=)" "p.(=)" "" "0000549566" "00025466" "10" "3867" "20" "3867" "21" "c.3867+20_3867+21dup" "r.(=)" "p.(=)" "" "0000549568" "00022847" "10" "2373" "21" "2373" "21" "c.2373+21dup" "r.(=)" "p.(=)" "" "0000549568" "00025466" "10" "3867" "21" "3867" "21" "c.3867+21dup" "r.(=)" "p.(=)" "" "0000549569" "00022847" "10" "2373" "21" "2373" "21" "c.2373+21dup" "r.(=)" "p.(=)" "" "0000549569" "00025466" "10" "3867" "21" "3867" "21" "c.3867+21dup" "r.(=)" "p.(=)" "" "0000549570" "00022847" "10" "2490" "0" "2490" "0" "c.2490G>A" "r.(?)" "p.(Pro830=)" "" "0000549570" "00025466" "10" "3867" "1328" "3867" "1328" "c.3867+1328G>A" "r.(=)" "p.(=)" "" "0000549572" "00022847" "30" "2775" "0" "2775" "0" "c.2775A>T" "r.(?)" "p.(Pro925=)" "" "0000549572" "00025466" "30" "3867" "1613" "3867" "1613" "c.3867+1613A>T" "r.(=)" "p.(=)" "" "0000549583" "00022847" "10" "3489" "4" "3489" "4" "c.3489+4C>T" "r.spl?" "p.?" "" "0000549583" "00025466" "10" "4245" "4" "4245" "4" "c.4245+4C>T" "r.spl?" "p.?" "" "0000549584" "00022847" "10" "3654" "0" "3654" "0" "c.3654A>G" "r.(?)" "p.(Ser1218=)" "" "0000549584" "00025466" "10" "4410" "0" "4410" "0" "c.4410A>G" "r.(?)" "p.(Ser1470=)" "" "0000549585" "00022847" "50" "3991" "0" "3991" "0" "c.3991C>A" "r.(?)" "p.(Pro1331Thr)" "" "0000549585" "00025466" "50" "4747" "0" "4747" "0" "c.4747C>A" "r.(?)" "p.(Pro1583Thr)" "" "0000549586" "00022847" "50" "3991" "0" "3991" "0" "c.3991C>A" "r.(?)" "p.(Pro1331Thr)" "" "0000549586" "00025466" "50" "4747" "0" "4747" "0" "c.4747C>A" "r.(?)" "p.(Pro1583Thr)" "" "0000549587" "00022847" "30" "4270" "0" "4270" "0" "c.4270A>G" "r.(?)" "p.(Ile1424Val)" "" "0000549587" "00025466" "30" "5026" "0" "5026" "0" "c.5026A>G" "r.(?)" "p.(Ile1676Val)" "" "0000549588" "00022847" "30" "4320" "0" "4320" "0" "c.4320C>T" "r.(?)" "p.(Ile1440=)" "" "0000549588" "00025466" "30" "5076" "0" "5076" "0" "c.5076C>T" "r.(?)" "p.(Ile1692=)" "" "0000549589" "00022847" "30" "4354" "0" "4354" "0" "c.4354A>G" "r.(?)" "p.(Thr1452Ala)" "" "0000549589" "00025466" "30" "5110" "0" "5110" "0" "c.5110A>G" "r.(?)" "p.(Thr1704Ala)" "" "0000549590" "00022847" "30" "4354" "0" "4354" "0" "c.4354A>G" "r.(?)" "p.(Thr1452Ala)" "" "0000549590" "00025466" "30" "5110" "0" "5110" "0" "c.5110A>G" "r.(?)" "p.(Thr1704Ala)" "" "0000549591" "00022847" "30" "4605" "0" "4607" "0" "c.4605_4607del" "r.(?)" "p.(Ser1536del)" "" "0000549591" "00025466" "30" "5361" "0" "5363" "0" "c.5361_5363del" "r.(?)" "p.(Ser1788del)" "" "0000549592" "00022847" "30" "4605" "0" "4607" "0" "c.4605_4607del" "r.(?)" "p.(Ser1536del)" "" "0000549592" "00025466" "30" "5361" "0" "5363" "0" "c.5361_5363del" "r.(?)" "p.(Ser1788del)" "" "0000549593" "00022847" "30" "5144" "0" "5144" "0" "c.5144A>G" "r.(?)" "p.(Asn1715Ser)" "" "0000549593" "00025466" "30" "5900" "0" "5900" "0" "c.5900A>G" "r.(?)" "p.(Asn1967Ser)" "" "0000549594" "00022847" "50" "5236" "0" "5236" "0" "c.5236A>G" "r.(?)" "p.(Lys1746Glu)" "" "0000549594" "00025466" "50" "5992" "0" "5992" "0" "c.5992A>G" "r.(?)" "p.(Lys1998Glu)" "" "0000549595" "00022847" "10" "5424" "0" "5424" "0" "c.5424G>T" "r.(?)" "p.(Met1808Ile)" "" "0000549595" "00025466" "10" "6180" "0" "6180" "0" "c.6180G>T" "r.(?)" "p.(Met2060Ile)" "" "0000597609" "00022847" "90" "2139" "2852" "2139" "2852" "c.2139+2852C>T" "r.(?)" "p.(=)" "" "0000597609" "00025466" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718Cys)" "" "0000614433" "00022847" "30" "1080" "0" "1080" "0" "c.1080T>C" "r.(?)" "p.(Pro360=)" "" "0000614433" "00025466" "30" "1080" "0" "1080" "0" "c.1080T>C" "r.(?)" "p.(Pro360=)" "" "0000614437" "00022847" "50" "2139" "2872" "2139" "2872" "c.2139+2872T>C" "r.(=)" "p.(=)" "" "0000614437" "00025466" "50" "2172" "0" "2172" "0" "c.2172T>C" "r.(?)" "p.(Val724=)" "" "0000614438" "00022847" "50" "2140" "-2423" "2140" "-2423" "c.2140-2423G>A" "r.(=)" "p.(=)" "" "0000614438" "00025466" "50" "3371" "0" "3371" "0" "c.3371G>A" "r.(?)" "p.(Gly1124Glu)" "" "0000623000" "00022847" "10" "2020" "0" "2020" "0" "c.2020A>G" "r.(?)" "p.(Thr674Ala)" "" "0000623000" "00025466" "10" "2020" "0" "2020" "0" "c.2020A>G" "r.(?)" "p.(Thr674Ala)" "" "0000623001" "00022847" "30" "2052" "0" "2052" "0" "c.2052A>G" "r.(?)" "p.(Ala684=)" "" "0000623001" "00025466" "30" "2052" "0" "2052" "0" "c.2052A>G" "r.(?)" "p.(Ala684=)" "" "0000623002" "00022847" "10" "2139" "2855" "2139" "2855" "c.2139+2855A>G" "r.(=)" "p.(=)" "" "0000623002" "00025466" "10" "2155" "0" "2155" "0" "c.2155A>G" "r.(?)" "p.(Ser719Gly)" "" "0000623003" "00022847" "30" "2140" "-3135" "2140" "-3135" "c.2140-3135T>C" "r.(=)" "p.(=)" "" "0000623003" "00025466" "30" "2659" "0" "2659" "0" "c.2659T>C" "r.(?)" "p.(Leu887=)" "" "0000623004" "00022847" "50" "2223" "1" "2223" "1" "c.2223+1G>A" "r.spl?" "p.?" "" "0000623004" "00025466" "50" "3717" "1" "3717" "1" "c.3717+1G>A" "r.spl?" "p.?" "" "0000623005" "00022847" "30" "2374" "-5" "2374" "-5" "c.2374-5C>T" "r.spl?" "p.?" "" "0000623005" "00025466" "30" "3867" "1207" "3867" "1207" "c.3867+1207C>T" "r.(=)" "p.(=)" "" "0000648678" "00022847" "10" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Thr665Ile)" "" "0000648678" "00025466" "10" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Thr665Ile)" "" "0000648679" "00022847" "30" "2020" "0" "2020" "0" "c.2020A>G" "r.(?)" "p.(Thr674Ala)" "" "0000648679" "00025466" "30" "2020" "0" "2020" "0" "c.2020A>G" "r.(?)" "p.(Thr674Ala)" "" "0000648682" "00022847" "10" "5468" "0" "5468" "0" "c.5468C>T" "r.(?)" "p.(Pro1823Leu)" "" "0000656963" "00022847" "30" "5833" "0" "5833" "0" "c.5833C>T" "r.(?)" "p.(Arg1945Cys)" "" "0000656963" "00025466" "30" "6589" "0" "6589" "0" "c.6589C>T" "r.(?)" "p.(Arg2197Cys)" "" "0000656964" "00022847" "30" "6036" "0" "6036" "0" "c.6036T>G" "r.(?)" "p.(Ser2012=)" "" "0000656964" "00025466" "30" "6792" "0" "6792" "0" "c.6792T>G" "r.(?)" "p.(Ser2264=)" "" "0000657216" "00022847" "30" "2206" "0" "2206" "0" "c.2206A>G" "r.(?)" "p.(Ile736Val)" "" "0000657216" "00025466" "30" "3700" "0" "3700" "0" "c.3700A>G" "r.(?)" "p.(Ile1234Val)" "" "0000669205" "00022847" "10" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Thr665Ile)" "" "0000669205" "00025466" "10" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Thr665Ile)" "" "0000669207" "00022847" "10" "5468" "0" "5468" "0" "c.5468C>T" "r.(?)" "p.(Pro1823Leu)" "" "0000669207" "00025466" "10" "6224" "0" "6224" "0" "c.6224C>T" "r.(?)" "p.(Pro2075Leu)" "" "0000679375" "00022847" "30" "6150" "0" "6150" "0" "c.6150T>C" "r.(?)" "p.(Leu2050=)" "" "0000679375" "00025466" "30" "6906" "0" "6906" "0" "c.6906T>C" "r.(?)" "p.(Leu2302=)" "" "0000679692" "00022847" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Thr358=)" "" "0000679692" "00025466" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Thr358=)" "" "0000691436" "00022847" "10" "-328" "0" "-328" "0" "c.-328C>G" "r.(?)" "p.(=)" "" "0000691436" "00025466" "10" "-328" "0" "-328" "0" "c.-328C>G" "r.(?)" "p.(=)" "" "0000723782" "00022847" "30" "6150" "0" "6150" "0" "c.6150T>C" "r.(?)" "p.(Leu2050=)" "" "0000723782" "00025466" "30" "6906" "0" "6906" "0" "c.6906T>C" "r.(?)" "p.(Leu2302=)" "" "0000724263" "00022847" "50" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "" "0000724263" "00025466" "50" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "" "0000724303" "00022847" "30" "933" "-16" "933" "-16" "c.933-16A>T" "r.(=)" "p.(=)" "" "0000724303" "00025466" "30" "933" "-16" "933" "-16" "c.933-16A>T" "r.(=)" "p.(=)" "" "0000724304" "00022847" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Thr358=)" "" "0000724304" "00025466" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Thr358=)" "" "0000724311" "00022847" "50" "2139" "2933" "2139" "2933" "c.2139+2933G>A" "r.(=)" "p.(=)" "" "0000724311" "00025466" "50" "2233" "0" "2233" "0" "c.2233G>A" "r.(?)" "p.(Ala745Thr)" "" "0000724312" "00022847" "50" "2140" "-2868" "2140" "-2868" "c.2140-2868G>A" "r.(=)" "p.(=)" "" "0000724312" "00025466" "50" "2926" "0" "2926" "0" "c.2926G>A" "r.(?)" "p.(Gly976Ser)" "" "0000724313" "00022847" "30" "2140" "-2423" "2140" "-2423" "c.2140-2423G>A" "r.(=)" "p.(=)" "" "0000724313" "00025466" "30" "3371" "0" "3371" "0" "c.3371G>A" "r.(?)" "p.(Gly1124Glu)" "" "0000724314" "00022847" "30" "3112" "-10" "3112" "-10" "c.3112-10C>T" "r.(=)" "p.(=)" "" "0000724314" "00025466" "30" "3868" "-10" "3868" "-10" "c.3868-10C>T" "r.(=)" "p.(=)" "" "0000805960" "00022847" "50" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Ala190Thr)" "" "0000805960" "00025466" "50" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Ala190Thr)" "" "0000805987" "00022847" "50" "2237" "0" "2237" "0" "c.2237A>G" "r.(?)" "p.(Gln746Arg)" "" "0000805987" "00025466" "50" "3731" "0" "3731" "0" "c.3731A>G" "r.(?)" "p.(Gln1244Arg)" "" "0000805989" "00022847" "50" "3188" "0" "3188" "0" "c.3188C>T" "r.(?)" "p.(Thr1063Ile)" "" "0000805989" "00025466" "50" "3944" "0" "3944" "0" "c.3944C>T" "r.(?)" "p.(Thr1315Ile)" "" "0000853229" "00022847" "30" "11760" "0" "11760" "0" "c.*4611A>C" "r.(=)" "p.(=)" "" "0000853229" "00025466" "30" "12516" "0" "12516" "0" "c.*4611A>C" "r.(=)" "p.(=)" "" "0000853230" "00022847" "30" "12409" "0" "12409" "0" "c.*5260G>T" "r.(=)" "p.(=)" "" "0000853230" "00025466" "30" "13165" "0" "13165" "0" "c.*5260G>T" "r.(=)" "p.(=)" "" "0000853537" "00022847" "10" "684" "0" "684" "0" "c.684C>T" "r.(?)" "p.(Gly228=)" "" "0000853537" "00025466" "10" "684" "0" "684" "0" "c.684C>T" "r.(?)" "p.(Gly228=)" "" "0000853538" "00022847" "10" "759" "16" "759" "18" "c.759+16_759+18dup" "r.(=)" "p.(=)" "" "0000853538" "00025466" "10" "759" "16" "759" "18" "c.759+16_759+18dup" "r.(=)" "p.(=)" "" "0000853556" "00022847" "30" "2139" "2872" "2139" "2872" "c.2139+2872T>C" "r.(=)" "p.(=)" "" "0000853556" "00025466" "30" "2172" "0" "2172" "0" "c.2172T>C" "r.(?)" "p.(Val724=)" "" "0000853557" "00022847" "30" "2206" "0" "2206" "0" "c.2206A>G" "r.(?)" "p.(Ile736Val)" "" "0000853557" "00025466" "30" "3700" "0" "3700" "0" "c.3700A>G" "r.(?)" "p.(Ile1234Val)" "" "0000853559" "00022847" "30" "3489" "17" "3489" "17" "c.3489+17A>G" "r.(=)" "p.(=)" "" "0000853559" "00025466" "30" "4245" "17" "4245" "17" "c.4245+17A>G" "r.(=)" "p.(=)" "" "0000853560" "00022847" "10" "3654" "0" "3654" "0" "c.3654A>G" "r.(?)" "p.(Ser1218=)" "" "0000853560" "00025466" "10" "4410" "0" "4410" "0" "c.4410A>G" "r.(?)" "p.(Ser1470=)" "" "0000853561" "00022847" "30" "4320" "0" "4320" "0" "c.4320C>T" "r.(?)" "p.(Ile1440=)" "" "0000853561" "00025466" "30" "5076" "0" "5076" "0" "c.5076C>T" "r.(?)" "p.(Ile1692=)" "" "0000853562" "00022847" "10" "5281" "-4" "5281" "-4" "c.5281-4G>A" "r.spl?" "p.?" "" "0000853562" "00025466" "10" "6037" "-4" "6037" "-4" "c.6037-4G>A" "r.spl?" "p.?" "" "0000863156" "00022847" "50" "865" "0" "865" "0" "c.865T>C" "r.(?)" "p.(Ser289Pro)" "" "0000863156" "00025466" "50" "865" "0" "865" "0" "c.865T>C" "r.(?)" "p.(Ser289Pro)" "" "0000863157" "00022847" "30" "915" "0" "915" "0" "c.915G>A" "r.(?)" "p.(Thr305=)" "" "0000863157" "00025466" "30" "915" "0" "915" "0" "c.915G>A" "r.(?)" "p.(Thr305=)" "" "0000863159" "00022847" "50" "2139" "3062" "2139" "3062" "c.2139+3062C>T" "r.(=)" "p.(=)" "" "0000863159" "00025466" "50" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Cys)" "" "0000863160" "00022847" "30" "2139" "3062" "2139" "3062" "c.2139+3062C>T" "r.(=)" "p.(=)" "" "0000863160" "00025466" "30" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Cys)" "" "0000863161" "00022847" "50" "2953" "0" "2953" "0" "c.2953C>G" "r.(?)" "p.(Leu985Val)" "" "0000863161" "00025466" "50" "3868" "-851" "3868" "-851" "c.3868-851C>G" "r.(=)" "p.(=)" "" "0000863162" "00022847" "30" "3112" "-10" "3112" "-10" "c.3112-10C>T" "r.(=)" "p.(=)" "" "0000863162" "00025466" "30" "3868" "-10" "3868" "-10" "c.3868-10C>T" "r.(=)" "p.(=)" "" "0000890224" "00022847" "30" "5583" "11" "5583" "11" "c.5583+11C>A" "r.(=)" "p.(=)" "" "0000890224" "00025466" "30" "6339" "11" "6339" "11" "c.6339+11C>A" "r.(=)" "p.(=)" "" "0000890225" "00022847" "30" "5851" "0" "5851" "0" "c.5851A>G" "r.(?)" "p.(Thr1951Ala)" "" "0000890225" "00025466" "30" "6607" "0" "6607" "0" "c.6607A>G" "r.(?)" "p.(Thr2203Ala)" "" "0000890226" "00022847" "30" "5991" "0" "5991" "0" "c.5991G>A" "r.(?)" "p.(Glu1997=)" "" "0000890226" "00025466" "30" "6747" "0" "6747" "0" "c.6747G>A" "r.(?)" "p.(Glu2249=)" "" "0000890227" "00022847" "30" "6643" "18" "6643" "18" "c.6643+18A>G" "r.(=)" "p.(=)" "" "0000890227" "00025466" "30" "7399" "18" "7399" "18" "c.7399+18A>G" "r.(=)" "p.(=)" "" "0000890802" "00022847" "30" "-9" "0" "-9" "0" "c.-9G>T" "r.(?)" "p.(=)" "" "0000890802" "00025466" "30" "-9" "0" "-9" "0" "c.-9G>T" "r.(?)" "p.(=)" "" "0000890803" "00022847" "10" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Ala149Val)" "" "0000890803" "00025466" "10" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Ala149Val)" "" "0000890804" "00022847" "10" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Ala149Val)" "" "0000890804" "00025466" "10" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Ala149Val)" "" "0000890805" "00022847" "30" "578" "0" "578" "0" "c.578C>A" "r.(?)" "p.(Pro193Gln)" "" "0000890805" "00025466" "30" "578" "0" "578" "0" "c.578C>A" "r.(?)" "p.(Pro193Gln)" "" "0000890841" "00022847" "30" "2020" "0" "2020" "0" "c.2020A>G" "r.(?)" "p.(Thr674Ala)" "" "0000890841" "00025466" "30" "2020" "0" "2020" "0" "c.2020A>G" "r.(?)" "p.(Thr674Ala)" "" "0000890842" "00022847" "10" "2139" "2855" "2139" "2855" "c.2139+2855A>G" "r.(=)" "p.(=)" "" "0000890842" "00025466" "10" "2155" "0" "2155" "0" "c.2155A>G" "r.(?)" "p.(Ser719Gly)" "" "0000890843" "00022847" "50" "2140" "-3141" "2140" "-3141" "c.2140-3141G>T" "r.(=)" "p.(=)" "" "0000890843" "00025466" "50" "2653" "0" "2653" "0" "c.2653G>T" "r.(?)" "p.(Val885Phe)" "" "0000890844" "00022847" "30" "2262" "0" "2262" "0" "c.2262A>C" "r.(?)" "p.(Thr754=)" "" "0000890844" "00025466" "30" "3756" "0" "3756" "0" "c.3756A>C" "r.(?)" "p.(Thr1252=)" "" "0000890845" "00022847" "30" "2490" "0" "2490" "0" "c.2490G>A" "r.(?)" "p.(Pro830=)" "" "0000890845" "00025466" "30" "3867" "1328" "3867" "1328" "c.3867+1328G>A" "r.(=)" "p.(=)" "" "0000890846" "00022847" "30" "3664" "-15" "3664" "-15" "c.3664-15T>A" "r.(=)" "p.(=)" "" "0000890846" "00025466" "30" "4420" "-15" "4420" "-15" "c.4420-15T>A" "r.(=)" "p.(=)" "" "0000890847" "00022847" "30" "4354" "0" "4354" "0" "c.4354A>G" "r.(?)" "p.(Thr1452Ala)" "" "0000890847" "00025466" "30" "5110" "0" "5110" "0" "c.5110A>G" "r.(?)" "p.(Thr1704Ala)" "" "0000890848" "00022847" "30" "4983" "0" "4983" "0" "c.4983T>C" "r.(?)" "p.(Ser1661=)" "" "0000890848" "00025466" "30" "5739" "0" "5739" "0" "c.5739T>C" "r.(?)" "p.(Ser1913=)" "" "0000890849" "00022847" "30" "5281" "-14" "5281" "-14" "c.5281-14T>A" "r.(=)" "p.(=)" "" "0000890849" "00025466" "30" "6037" "-14" "6037" "-14" "c.6037-14T>A" "r.(=)" "p.(=)" "" "0000890850" "00022847" "10" "5284" "0" "5284" "0" "c.5284C>T" "r.(?)" "p.(Leu1762=)" "" "0000890850" "00025466" "10" "6040" "0" "6040" "0" "c.6040C>T" "r.(?)" "p.(Leu2014=)" "" "0000913729" "00022847" "30" "7021" "0" "7021" "0" "c.7021G>A" "r.(?)" "p.(Gly2341Ser)" "" "0000913729" "00025466" "30" "7777" "0" "7777" "0" "c.7777G>A" "r.(?)" "p.(Gly2593Ser)" "" "0000913968" "00022847" "50" "2294" "0" "2294" "0" "c.2294C>G" "r.(?)" "p.(Ser765Cys)" "" "0000913968" "00025466" "50" "3788" "0" "3788" "0" "c.3788C>G" "r.(?)" "p.(Ser1263Cys)" "" "0000913969" "00022847" "30" "2664" "0" "2664" "0" "c.2664A>G" "r.(?)" "p.(Val888=)" "" "0000913969" "00025466" "30" "3867" "1502" "3867" "1502" "c.3867+1502A>G" "r.(=)" "p.(=)" "" "0000913970" "00022847" "30" "3112" "-10" "3112" "-10" "c.3112-10C>T" "r.(=)" "p.(=)" "" "0000913970" "00025466" "30" "3868" "-10" "3868" "-10" "c.3868-10C>T" "r.(=)" "p.(=)" "" "0000925708" "00022847" "10" "2139" "2919" "2139" "2919" "c.2139+2919T>C" "r.(=)" "p.(=)" "" "0000925708" "00025466" "10" "2219" "0" "2219" "0" "c.2219T>C" "r.(?)" "p.(Leu740Pro)" "" "0000925709" "00022847" "10" "2139" "2920" "2139" "2920" "c.2139+2920dup" "r.(=)" "p.(=)" "" "0000925709" "00025466" "10" "2220" "0" "2220" "0" "c.2220dup" "r.(?)" "p.(Phe741LeufsTer30)" "" "0000930163" "00022847" "30" "1197" "0" "1197" "0" "c.1197T>C" "r.(?)" "p.(=)" "" "0000930163" "00025466" "30" "1197" "0" "1197" "0" "c.1197T>C" "r.(?)" "p.(=)" "" "0000936407" "00022847" "50" "2140" "-2825" "2140" "-2825" "c.2140-2825C>A" "r.(=)" "p.(=)" "" "0000936407" "00025466" "50" "2969" "0" "2969" "0" "c.2969C>A" "r.(?)" "p.(Ala990Asp)" "" "0000950048" "00022847" "30" "2459" "0" "2459" "0" "c.2459C>G" "r.(?)" "p.(Ser820Cys)" "" "0000950048" "00025466" "30" "3867" "1297" "3867" "1297" "c.3867+1297C>G" "r.(=)" "p.(=)" "" "0000979954" "00022847" "50" "6089" "0" "6089" "0" "c.6089C>G" "r.(?)" "p.(Pro2030Arg)" "" "0000979954" "00025466" "50" "6845" "0" "6845" "0" "c.6845C>G" "r.(?)" "p.(Pro2282Arg)" "" "0000980518" "00022847" "30" "2052" "0" "2052" "0" "c.2052A>G" "r.(?)" "p.(Ala684=)" "" "0000980518" "00025466" "30" "2052" "0" "2052" "0" "c.2052A>G" "r.(?)" "p.(Ala684=)" "" "0000980519" "00022847" "30" "2336" "0" "2336" "0" "c.2336C>T" "r.(?)" "p.(Ala779Val)" "" "0000980519" "00025466" "30" "3830" "0" "3830" "0" "c.3830C>T" "r.(?)" "p.(Ala1277Val)" "" "0000980523" "00022847" "30" "4354" "0" "4354" "0" "c.4354A>G" "r.(?)" "p.(Thr1452Ala)" "" "0000980523" "00025466" "30" "5110" "0" "5110" "0" "c.5110A>G" "r.(?)" "p.(Thr1704Ala)" "" "0001000375" "00022847" "30" "2494" "0" "2494" "0" "c.2494C>G" "r.(?)" "p.(Pro832Ala)" "" "0001000375" "00025466" "30" "3867" "1332" "3867" "1332" "c.3867+1332C>G" "r.(=)" "p.(=)" "" "0001000379" "00022847" "30" "4364" "0" "4364" "0" "c.4364C>T" "r.(?)" "p.(Ala1455Val)" "" "0001000379" "00025466" "30" "5120" "0" "5120" "0" "c.5120C>T" "r.(?)" "p.(Ala1707Val)" "" "0001000380" "00022847" "30" "4892" "0" "4892" "0" "c.4892C>T" "r.(?)" "p.(Pro1631Leu)" "" "0001000380" "00025466" "30" "5648" "0" "5648" "0" "c.5648C>T" "r.(?)" "p.(Pro1883Leu)" "" "0001014889" "00022847" "30" "5583" "3" "5583" "3" "c.5583+3A>G" "r.spl?" "p.?" "" "0001014889" "00025466" "30" "6339" "3" "6339" "3" "c.6339+3A>G" "r.spl?" "p.?" "" "0001015022" "00022847" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(=)" "" "0001015022" "00025466" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(=)" "" "0001038870" "00022847" "50" "7058" "0" "7058" "0" "c.7058C>A" "r.(?)" "p.(Pro2353His)" "" "0001038870" "00025466" "50" "7814" "0" "7814" "0" "c.7814C>A" "r.(?)" "p.(Pro2605His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000037479" "0000064604" "0000037480" "0000064605" "0000037481" "0000064606" "0000037482" "0000064607" "0000037483" "0000064608" "0000037484" "0000064609" "0000037485" "0000064610" "0000037486" "0000064611" "0000037487" "0000064612" "0000037488" "0000064613" "0000037489" "0000064614" "0000037490" "0000064615" "0000037491" "0000064616" "0000037492" "0000064617" "0000037493" "0000064618" "0000037494" "0000064619" "0000037495" "0000064620" "0000037496" "0000064621" "0000037497" "0000064622" "0000037498" "0000064623" "0000037499" "0000064624" "0000037500" "0000064625" "0000152818" "0000351653" "0000152819" "0000351654" "0000152820" "0000351655" "0000266792" "0000597609" "0000291989" "0000648678" "0000291990" "0000648679" "0000291993" "0000648682" "0000305517" "0000669205" "0000305519" "0000669207" "0000440105" "0000936407"