### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NPHP4) # 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}}" "NPHP4" "nephronophthisis 4" "1" "p36" "unknown" "NG_011724.2" "NC_000001.10" "" "https://www.LOVD.nl/NPHP4" "" "1" "19104" "261734" "607215" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "" "" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00002" "2010-04-29 00:00:00" "00006" "2020-11-25 19:21:18" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025432" "NPHP4" "nephrocystin 4, transcript variant 1" "010" "NM_015102.4" "" "NP_055917.1" "" "" "" "-268" "4738" "4281" "6052533" "5922868" "00001" "2019-07-17 17:52:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00374" "NPHP1" "nephronophthisis, type 1" "AR" "256100" "" "" "" "00006" "2014-05-02 09:58:21" "00006" "2022-01-23 12:29:39" "00377" "SLSN" "Senior-Loken syndrome (SLSN)" "AR" "266900" "" "" "" "00006" "2014-05-02 10:22:56" "00006" "2021-12-10 21:51:32" "01371" "HD" "Huntington disease (HD)" "AD" "143100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02619" "NPHP4" "nephronophthisis, type 4 (NPHP-4)" "AR" "606966" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02620" "SLSN4" "Senior-Loken syndrome, type 4 (SLSN-4)" "AR" "606996" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04222" "PKD" "kidney disease, polycystic (PKD)" "" "" "" "" "" "00006" "2015-03-13 11:12:15" "00006" "2017-11-15 22:09:51" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05427" "ADPKD" "kidney, polycystic, disease, autosomal dominant (ADPKD)" "" "" "" "" "" "00006" "2018-05-08 22:37:08" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06892" "NPHP" "nephronophthisis" "" "" "" "" "" "00006" "2022-01-23 12:29:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NPHP4" "02619" "NPHP4" "02620" ## Individuals ## Do not remove or alter this header ## ## Count = 73 "{{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}}" "00000014" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000024" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000039" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000041" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000042" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000049" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000075" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00001821" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00033170" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00081376" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081379" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00155506" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Yemenite;Jewish" "" "00289404" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "M" "" "" "" "0" "" "" "" "Pat22" "00302699" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "M" "yes" "Oman" "" "0" "" "" "" "P23" "00302712" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "M" "yes" "Oman" "" "0" "" "" "" "P40" "00309245" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00328507" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15001053" "00335979" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00358977" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case25939" "00373849" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "simplex case" "" "" "Northern Ireland" "" "0" "" "" "" "Rp131" "00375426" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#020" "00377748" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "heterozygous mutation identified in father" "" "" "Germany" "" "0" "" "" "" "" "00377749" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "Belgium" "" "0" "" "" "" "" "00377779" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "no" "Germany" "" "0" "" "" "" "" "00377780" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "yes" "" "" "0" "" "" "Arab" "" "00377915" "" "" "" "1" "" "00000" "{PMID:Chaki 2011:21422230}" "" "" "" "" "" "0" "" "" "" "" "00380138" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "13DG0528" "00380358" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00381728" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00385231" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "Melanesian" "" "00385254" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00385255" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00385285" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00385949" "" "" "" "1" "" "00000" "{PMID:Gonzalez-del Pozo-2013:24689075}" "" "M" "" "Spain" "" "0" "" "" "spanish" "" "00390811" "" "" "" "2" "" "00000" "{PMID:Khateb-2016:27208209}" "two siblings affected by Senior–Loken syndrome due to a combined diagnosis of early-onset RP and renal failure, which resulted in kidney transplantation at the age of 35 years in both patients" "" "" "" "" "0" "" "" "Arab/ Muslim" "" "00391386" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "54" "00391730" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "117" "00391752" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "137" "00395611" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-2997" "00397661" "" "" "" "1" "" "00000" "{PMID:Helou 2008:17617513}" "" "" "no" "Italy" "" "0" "" "" "" "F848 (II-1)" "00398528" "" "" "" "1" "" "00006" "{PMID:Moey 2015:26059843}" "" "" "" "" "" "0" "" "" "" "Pat4" "00398529" "" "" "" "1" "" "00006" "{PMID:Froyen 2008:18252223}, {PMID:Froyen 2012:22840365}, {PMID:Moey 2015:26059843}" "" "" "" "" "" "0" "" "" "" "A057" "00398530" "" "" "" "1" "" "00006" "{PMID:Froyen 2012:22840365}, {PMID:Moey 2015:26059843}" "" "" "" "" "" "0" "" "" "" "ON1" "00398531" "" "" "" "1" "" "00006" "{PMID:Froyen 2012:22840365}, {PMID:Moey 2015:26059843}" "" "" "" "" "" "0" "" "" "" "AU88848" "00398532" "" "" "" "1" "" "00006" "{PMID:Froyen 2012:22840365}, {PMID:Moey 2015:26059843}" "" "" "" "" "" "0" "" "" "" "FTD" "00398533" "" "" "" "1" "" "00006" "{PMID:Froyen 2012:22840365}, {PMID:Moey 2015:26059843}" "" "M" "" "" "" "0" "" "" "" "F538" "00398534" "" "" "" "1" "" "00006" "{PMID Gedeon 1994:7943039}, {PMID:Froyen 2008:18252223}, {PMID:Froyen 2012:22840365}, {PMID:Moey 2015:26059843}" "" "" "" "Australia" "" "0" "" "" "" "A009/MRX17" "00399816" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1022" "00399817" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1019" "00407378" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "Kuwait" "" "0" "" "" "" "F1241" "00407379" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "yes" "Turkey" "" "0" "" "" "" "F1270" "00407380" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "Sweden" "" "0" "" "" "" "F1183" "00407381" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "two individuals from this family" "?" "yes" "Pakistan" "" "0" "" "" "" "F1322-1" "00407382" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "two individuals from this family" "?" "yes" "Pakistan" "" "0" "" "" "" "F1322-2" "00407673" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "K-5" "00413759" "" "" "" "1" "" "00000" "{PMID:Chan 2016:27639845}" "" "M" "" "" "" "0" "" "" "" "Case 1" "00418815" "" "" "" "1" "" "00000" "{PMID:Sellami 2006:17114995}" "Family 2 (article in French) (article in French)" "M" "" "" "" "0" "" "" "" "2_V:2" "00418816" "" "" "" "1" "" "00000" "{PMID:Sellami 2006:17114995}" "Family 2 (article in French) (article in French)" "M" "" "" "" "0" "" "" "" "2_V:6" "00418817" "" "" "" "1" "" "00000" "{PMID:Sellami 2006:17114995}" "Family 2 (article in French) (article in French)" "M" "" "" "" "0" "" "" "" "2_V:7" "00418818" "" "" "" "1" "" "00000" "{PMID:Sellami 2006:17114995}" "Family 2 (article in French) (article in French)" "M" "" "" "" "0" "" "" "" "2_V:11" "00418819" "" "" "" "1" "" "00000" "{PMID:Sellami 2006:17114995}" "Family 2 (article in French) (article in French)" "F" "" "" "" "0" "" "" "" "2_V:12" "00418820" "" "" "" "1" "" "00000" "{PMID:Sellami 2006:17114995}" "Family 2 (article in French) (article in French)" "M" "" "" "" "0" "" "" "" "2_V:13" "00418825" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F1114, individual II-1" "M" "" "Hungary" "" "0" "" "" "" "F1114_II-1" "00418827" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family A11, individual II-1" "M" "" "France" "" "0" "" "" "" "A11_II-1" "00418828" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F24, individual II-1" "F" "" "Germany" "" "0" "" "" "" "F24_II-1" "00418829" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F24, individual II-2" "F" "" "Germany" "" "0" "" "" "" "F24_II-2" "00418834" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F 700, individual II-6" "" "" "Turkey" "" "0" "" "" "" "F 700_II-6" "00418838" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F 616, individual II-2" "" "" "Germany" "" "0" "" "" "" "F 616_II-2" "00418839" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F 800, individual II-1" "" "" "United States" "" "0" "" "" "" "F 800_II-1" "00418840" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F 244, individual II-5" "" "" "Morocco" "" "0" "" "" "" "F 244_II-5" "00448865" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}, {PMID:Fujimaru 2021:34013113}" "" "M" "" "Japan" "" "0" "" "" "" "Pat478" "00465250" "" "" "" "2" "" "00006" "{PMID:Karam 2024:38895833}, {DOI:Karam 2024:10.1002/jcla.25077}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "FamPatIV1" "00465251" "" "" "00465250" "1" "" "00006" "{PMID:Karam 2024:38895833}, {DOI:Karam 2024:10.1002/jcla.25077}" "sister" "F" "yes" "Iran" "" "0" "" "" "" "FamPatIV2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 70 "{{individualid}}" "{{diseaseid}}" "00000014" "00138" "00000014" "05378" "00000024" "05378" "00000039" "05427" "00001821" "00112" "00033170" "04214" "00081376" "01371" "00081379" "01371" "00155506" "00377" "00289404" "05611" "00302699" "04222" "00302712" "04222" "00309245" "04214" "00328507" "04214" "00335979" "04214" "00358977" "04214" "00373849" "04214" "00375426" "04214" "00377748" "04214" "00377749" "04214" "00377779" "04214" "00377780" "04214" "00377915" "04214" "00380138" "04214" "00380358" "04214" "00381728" "04214" "00385231" "04214" "00385254" "04214" "00385255" "04214" "00385285" "04214" "00385949" "04214" "00390811" "04214" "00391386" "04214" "00391730" "04214" "00391752" "04214" "00395611" "04214" "00397661" "04214" "00398528" "00139" "00398529" "00139" "00398530" "00139" "00398531" "00139" "00398532" "00139" "00398533" "00139" "00398534" "00139" "00399816" "06892" "00399817" "06892" "00407378" "04214" "00407379" "04214" "00407380" "04214" "00407381" "04214" "00407382" "04214" "00407673" "04214" "00413759" "04214" "00418815" "00374" "00418816" "00374" "00418817" "00374" "00418818" "00374" "00418819" "00374" "00418820" "00374" "00418825" "00374" "00418827" "00374" "00418828" "00374" "00418829" "00374" "00418834" "00374" "00418838" "00374" "00418839" "00374" "00418840" "00374" "00448865" "04222" "00465250" "06892" "00465251" "06892" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00138, 00139, 00374, 00377, 01371, 02619, 02620, 04214, 04222, 05378, 05427, 05611, 06892 ## Count = 63 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Cysts}}" "{{Phenotype/Hypertension/HPO_0000822}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000026599" "04214" "00033170" "00229" "Unknown" "4y" "retinal degeneration, severe, early onset (EOSRD)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000060939" "01371" "00081376" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060942" "01371" "00081379" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128006" "00377" "00155506" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "SLS" "0000223016" "05611" "00289404" "00006" "Unknown" "21m" "first smile 21m; sit not achieved, walk not achieved; no speech; severe learning difficulties; language delay no language development; language delay; OFC -4.6 SD" "" "" "" "" "" "" "" "" "" "" "" "0000229783" "04222" "00302699" "03601" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "" "NPHP4" "nephronophthisis" "0000229796" "04222" "00302712" "03601" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "" "NPHP4" "nephronophthisis" "0000234565" "04214" "00309245" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "SLS" "0000246733" "04214" "00328507" "00000" "Familial, autosomal recessive" "9y" "retinal dystrophy (HP:0000556), nephronophthisis (HP:0000090)" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "0000253894" "04214" "00335979" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "0000254275" "04214" "00358977" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000269058" "04214" "00373849" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000270640" "04214" "00375426" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000272894" "04214" "00377748" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "0000272895" "04214" "00377749" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "0000272925" "04214" "00377779" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "0000272926" "04214" "00377780" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "0000273061" "04214" "00377915" "00000" "Unknown" "7y" "mental retardation." "" "" "" "" "" "" "" "" "" "" "end-stage renal disease (ESRD)" "0000273993" "04214" "00380138" "00000" "Familial, autosomal recessive" "" "stage 5 chronic kidney disease" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "0000274209" "04214" "00380358" "00000" "Familial, autosomal recessive" "7y" "retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "0000275570" "04214" "00381728" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "0000279027" "04214" "00385231" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "0000279050" "04214" "00385254" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "0000279051" "04214" "00385255" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "0000279081" "04214" "00385285" "00000" "Familial, autosomal recessive" "7y" "obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "0000279750" "04214" "00385949" "00000" "Familial, autosomal recessive" "" "Night blindness, retinitis pigmentosa, postaxial polydactyly both feet, Obese, learning disabilities, kidney cysts, kidney transplant, poor coordination" "10y" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS); polycystic kidney disease (PKD)" "0000284299" "04214" "00390811" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Senior–Loken syndrome" "0000284826" "04214" "00391386" "00000" "Unknown" "" "diagnosis unsure" "" "" "" "" "" "" "" "" "" "Senior-Loken 4 (606996)" "Senior-Loken 4 (606996)" "0000285055" "04214" "00391730" "00000" "Unknown" "" "best corrected visual acuity right/left eye: counting fingers" "2y" "" "" "" "" "" "" "" "" "early-onset retinal dystrophy" "" "0000285077" "04214" "00391752" "00000" "Unknown" "" "best corrected visual acuity right/left eye: hand movement" "10m" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "0000288809" "04214" "00395611" "00000" "Familial, autosomal recessive" "" "dyschromatopsia, photophobia, rod-cone dystrophy, hypertension, chronic kidney disease, renal cystrenal transplant" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "Senior-Loken syndrome" "0000290788" "04214" "00397661" "00000" "Familial, autosomal recessive" "" "tapetoretinal degeneration (vision 1/10 at 44)" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "0000291656" "00139" "00398528" "00006" "Unknown" "" "see paper; ..., severe intellectual disability; 11y-speech delay, no words; microcephaly, hypotonia, hypogonadism, myoclonus; 11y-st, 11y-not walking" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000291657" "00139" "00398529" "00006" "Unknown" "" "see paper; ..., moderate intellectual disability; speech delay, limited speech later in life; hyperactive" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000291658" "00139" "00398530" "00006" "Unknown" "" "see paper; ..., developmental delay, mild-moderate intellectual disability; marked speech delay, 7y-partial lack of speech; hyperactivity, attention problems, self-destructing behavior; facial abnormalities" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000291659" "00139" "00398531" "00006" "Unknown" "" "see paper; ..., mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000291660" "00139" "00398532" "00006" "Unknown" "" "see paper; ..., developmental delay, mild intellectual disability ; speech delay; functional heart murmur, chronic vomiting, diarrhea, urolithiasis, bilateral inguinal hernia, cryptorchidism; facial dysmorphies; paroxysmal sleep episodes; attention-deficit hyperactivity disorder, hyperactivity; EEG abnormal" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000291661" "00139" "00398533" "00006" "Unknown" "" "see paper; ..., moderate intellectual disability; stutter, limited speech;" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000291662" "00139" "00398534" "00006" "Unknown" "" "see paper; ..., mild intellectual disability; slow speech development; hyperactivity" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000299732" "04214" "00407378" "00000" "Familial, autosomal recessive" "14y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000299733" "04214" "00407379" "00000" "Familial, autosomal recessive" "14y" "extrarenal manifestations: mild hearing impairment" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000299734" "04214" "00407380" "00000" "Familial, autosomal recessive" "14y" "extrarenal manifestations: none" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000299735" "04214" "00407381" "00000" "Familial, autosomal recessive" "21y" "extrarenal manifestations: short stature" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000299736" "04214" "00407382" "00000" "Familial, autosomal recessive" "17y" "extrarenal manifestations: short stature" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000299820" "04214" "00407673" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 2.5, extra-renal manifestations: optic nerve anomaly" "" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "0000305724" "04214" "00413759" "00000" "Unknown" "54y" "RP with bone spicule formation in the periphery; constricted visual fields and a generalized reduction in all amplitudes of the full-field electroretinogram." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "0000310112" "00374" "00418815" "00000" "Familial, autosomal recessive" "21y" "age at renal failure: 18y; age at end-stage renal failure: 19y; retinal dystrophy" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310113" "00374" "00418816" "00000" "Familial, autosomal recessive" "24y" "age at renal failure: 20y; age at end-stage renal failure: 21y; no retinal dystrophy" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310114" "00374" "00418817" "00000" "Familial, autosomal recessive" "19y" "age at renal failure: 19y; age at end-stage renal failure: ; no retinal dystrophy" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310115" "00374" "00418818" "00000" "Familial, autosomal recessive" "23y" "age at renal failure: 25y; age at end-stage renal failure: ; retinal dystrophy" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310116" "00374" "00418819" "00000" "Familial, autosomal recessive" "16y" "age at renal failure: 15y; age at end-stage renal failure: 15y; no retinal dystrophy" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310117" "00374" "00418820" "00000" "Familial, autosomal recessive" "23y" "age at renal failure: 20y; age at end-stage renal failure: 24y; no retinal dystrophy" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310122" "00374" "00418825" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 9y; extrarenal manifestations: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310124" "00374" "00418827" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 3y; extrarenal manifestations: liver fibrosis" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310125" "00374" "00418828" "00000" "Familial, autosomal recessive" "" "extrarenal manifestations: no data available" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310126" "00374" "00418829" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 14y; extrarenal manifestations: no data available" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310131" "00374" "00418834" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 10y; extrarenal manifestations: cerebellar vermis hypoplasia" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310135" "00374" "00418838" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 14y; extrarenal manifestations: liver fibrosis" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310136" "00374" "00418839" "00000" "Familial, autosomal recessive" "" "extrarenal manifestations: infantile nephronophthisis, ocular motor apraxia, polydactyly" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000310137" "00374" "00418840" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 1y; extrarenal manifestations: situs inversus, infantile nephronophthisis" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000338040" "04222" "00448865" "00006" "Familial, autosomal recessive" "25y" "see paper; ..." "" "" "" "" "" "" "" "" "" "NPHP4" "nephronophthisis" "0000350785" "06892" "00465250" "00006" "Familial, autosomal recessive" "27y" "see paper; ..., anemia, no facial features, mild growth retardation, no mental retardation, general weakness, renal failure, uremia, polyuria, polydipsia, renal interstitial fibrosis, no liver fibrosis, no situs inversus, no cardiac dysfunction, no ocular problems, no auditory impairments, no skeletal abnormalities, no hypertension" "" "" "" "" "" "" "" "" "" "NPHP4" "nephronophthisis" "0000350786" "06892" "00465251" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., anemia, no facial features, mild growth retardation, no mental retardation, general weakness, renal failure, uremia, polyuria, polydipsia, renal interstitial fibrosis, no liver fibrosis, no situs inversus, no cardiac dysfunction, no ocular problems, no auditory impairments, no skeletal abnormalities, no hypertension" "" "" "" "" "" "" "" "" "" "NPHP4" "nephronophthisis" ## Screenings ## Do not remove or alter this header ## ## Count = 73 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000014" "00000014" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000024" "00000024" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000039" "00000039" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000041" "00000041" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000042" "00000042" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000049" "00000049" "1" "00004" "" "2012-05-11 13:18:49" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000075" "00000075" "1" "00004" "" "2012-05-11 13:19:00" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000001624" "00001821" "1" "00102" "00102" "2013-08-08 23:12:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000033238" "00033170" "1" "00229" "00229" "2012-02-04 15:59:56" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000081489" "00081376" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081492" "00081379" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000156371" "00155506" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000290574" "00289404" "1" "03384" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303825" "00302699" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303838" "00302712" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000310390" "00309245" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329722" "00328507" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000337209" "00335979" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360214" "00358977" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000375081" "00373849" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000376623" "00375426" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000378952" "00377748" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378953" "00377749" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378983" "00377779" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378984" "00377780" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000379119" "00377915" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000381340" "00380138" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel" "0000381572" "00380358" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000382944" "00381728" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000386460" "00385231" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386483" "00385254" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386484" "00385255" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386514" "00385285" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000387177" "00385949" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "blood" "" "0000392052" "00390811" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCR;SEQ-NG;SEQ" "DNA" "blood" "WES" "0000392628" "00391386" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000392971" "00391730" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000392993" "00391752" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000396849" "00395611" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000398899" "00397661" "1" "00000" "03840" "2021-12-27 16:15:49" "" "" "SEQ" "DNA" "blood" "" "0000399774" "00398528" "1" "00006" "00006" "2022-01-06 09:27:03" "" "" "arrayCGH" "DNA" "" "" "0000399775" "00398529" "1" "00006" "00006" "2022-01-06 09:27:03" "" "" "arrayCGH" "DNA" "" "" "0000399776" "00398530" "1" "00006" "00006" "2022-01-06 09:27:03" "" "" "arrayCGH" "DNA" "" "" "0000399777" "00398531" "1" "00006" "00006" "2022-01-06 09:27:03" "" "" "arrayCGH" "DNA" "" "" "0000399778" "00398532" "1" "00006" "00006" "2022-01-06 09:27:03" "" "" "arrayCGH" "DNA" "" "" "0000399779" "00398533" "1" "00006" "00006" "2022-01-06 09:27:03" "" "" "arrayCGH" "DNA" "" "" "0000399780" "00398534" "1" "00006" "00006" "2022-01-06 09:27:03" "" "" "arrayCGH" "DNA" "" "" "0000401059" "00399816" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401060" "00399817" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000408626" "00407378" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP23" "0000408627" "00407379" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP24" "0000408628" "00407380" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP25" "0000408629" "00407381" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP26" "0000408630" "00407382" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "HD;SEQ" "DNA" "blood" "genes: NPHP1-NPHP27" "0000408925" "00407673" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000415039" "00413759" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG" "DNA" "" "" "0000420112" "00418815" "1" "00000" "03840" "2022-10-07 14:01:31" "" "" "?" "DNA" "blood" "" "0000420113" "00418816" "1" "00000" "03840" "2022-10-07 14:01:31" "" "" "?" "DNA" "blood" "" "0000420114" "00418817" "1" "00000" "03840" "2022-10-07 14:01:31" "" "" "?" "DNA" "blood" "" "0000420115" "00418818" "1" "00000" "03840" "2022-10-07 14:01:31" "" "" "?" "DNA" "blood" "" "0000420116" "00418819" "1" "00000" "03840" "2022-10-07 14:01:31" "" "" "?" "DNA" "blood" "" "0000420117" "00418820" "1" "00000" "03840" "2022-10-07 14:01:31" "" "" "?" "DNA" "blood" "" "0000420122" "00418825" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420124" "00418827" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420125" "00418828" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420126" "00418829" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420131" "00418834" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420135" "00418838" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420136" "00418839" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420137" "00418840" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000450456" "00448865" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466900" "00465250" "1" "00006" "00006" "2025-05-01 18:44:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466901" "00465251" "1" "00006" "00006" "2025-05-01 18:49:36" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 146 "{{screeningid}}" "{{geneid}}" "0000000014" "ALG6" "0000000014" "ATP7B" "0000000014" "CFTR" "0000000014" "DPYD" "0000000014" "ETFB" "0000000014" "GLB1" "0000000014" "GNPTAB" "0000000014" "HEXB" "0000000014" "IGHMBP2" "0000000014" "MYO5A" "0000000014" "NHLRC1" "0000000014" "NPHP4" "0000000014" "NPHS1" "0000000014" "PKHD1" "0000000014" "SERPINA1" "0000000014" "SFTPB" "0000000014" "SGSH" "0000000014" "TSFM" "0000000024" "AGA" "0000000024" "AMPD1" "0000000024" "ATP7B" "0000000024" "CBS" "0000000024" "CPT1A" "0000000024" "CYP21A2" "0000000024" "DPYD" "0000000024" "ETFB" "0000000024" "MEFV" "0000000024" "NPHP4" "0000000024" "NPHS1" "0000000024" "SERPINA1" "0000000039" "AHI1" "0000000039" "ATP7B" "0000000039" "DPYD" "0000000039" "ETFB" "0000000039" "GAA" "0000000039" "GLB1" "0000000039" "LAMA2" "0000000039" "MTHFR" "0000000039" "NPHP4" "0000000039" "NPHS1" "0000000039" "P3H1" "0000000039" "SBDS" "0000000039" "SLC26A2" "0000000041" "ATP7A" "0000000041" "ATP7B" "0000000041" "DPYD" "0000000041" "ETFB" "0000000041" "IGHMBP2" "0000000041" "MPL" "0000000041" "MYO5A" "0000000041" "NHLRC1" "0000000041" "NPHP4" "0000000041" "NPHS1" "0000000041" "PLP1" "0000000041" "SERPINA1" "0000000042" "ATP7B" "0000000042" "DPYD" "0000000042" "ETFB" "0000000042" "GLB1" "0000000042" "IGHMBP2" "0000000042" "JAK3" "0000000042" "NPHP4" "0000000042" "NPHS1" "0000000042" "POLG" "0000000042" "QARS" "0000000042" "SERPINA1" "0000000042" "SLC26A2" "0000000042" "SMPD1" "0000000049" "ATP7B" "0000000049" "CYP21A2" "0000000049" "DPYD" "0000000049" "ETFB" "0000000049" "GALC" "0000000049" "GLB1" "0000000049" "IGHMBP2" "0000000049" "LAMA2" "0000000049" "MPL" "0000000049" "MYO5A" "0000000049" "NPHP4" "0000000049" "SERPINA1" "0000000049" "SGSH" "0000000049" "SLC26A2" "0000000075" "ATP7B" "0000000075" "CDH23" "0000000075" "ETFB" "0000000075" "GAA" "0000000075" "HESX1" "0000000075" "IGHMBP2" "0000000075" "LAMA2" "0000000075" "MEFV" "0000000075" "NPHP4" "0000000075" "SERPINA1" "0000033238" "BEST1" "0000033238" "CRB1" "0000033238" "NPHP4" "0000033238" "RLBP1" "0000081489" "HTT" "0000081492" "HTT" "0000156371" "NPHP4" "0000290574" "TRIO" "0000303825" "NPHP4" "0000303838" "NPHP4" "0000310390" "NPHP4" "0000329722" "NPHP4" "0000337209" "NPHP4" "0000375081" "NPHP4" "0000378952" "NPHP4" "0000378953" "NPHP4" "0000378983" "NPHP4" "0000378984" "NPHP4" "0000379119" "NPHP4" "0000381572" "BBS9" "0000382944" "NPHP4" "0000386460" "ALMS1" "0000386483" "BBS5" "0000386484" "NPHP4" "0000386514" "MKKS" "0000387177" "MKKS" "0000392052" "NPHP4" "0000392628" "NPHP4" "0000392971" "NPHP4" "0000392993" "NPHP4" "0000396849" "NPHP4" "0000398899" "CEP290" "0000408626" "NPHP4" "0000408627" "NPHP4" "0000408628" "NPHP4" "0000408629" "NPHP4" "0000408630" "NPHP4" "0000408925" "NPHP4" "0000415039" "NPHP4" "0000420112" "NPHP4" "0000420113" "NPHP4" "0000420114" "NPHP4" "0000420115" "NPHP4" "0000420116" "NPHP4" "0000420117" "NPHP4" "0000420122" "NPHP1" "0000420124" "NPHP3" "0000420125" "NPHP4" "0000420126" "NPHP4" "0000420131" "NPHP4" "0000420135" "NPHP4" "0000420136" "NPHP4" "0000420137" "NPHP4" "0000466901" "NPHP4" ## 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 = 420 "{{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}}" "0000000119" "0" "50" "1" "5924535" "5924535" "subst" "0.000164767" "00002" "NPHP4_000006" "g.5924535G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.5864475G>C" "" "VUS" "" "0000000120" "0" "50" "1" "5940243" "5940243" "subst" "0.0155048" "00002" "NPHP4_000002" "g.5940243G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5880183G>A" "" "VUS" "" "0000000121" "0" "50" "1" "5940243" "5940243" "subst" "0.0155048" "00002" "NPHP4_000002" "g.5940243G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5880183G>A" "" "VUS" "" "0000000122" "0" "50" "1" "5940243" "5940243" "subst" "0.0155048" "00002" "NPHP4_000002" "g.5940243G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5880183G>A" "" "VUS" "" "0000000123" "0" "50" "1" "5940243" "5940243" "subst" "0.0155048" "00002" "NPHP4_000002" "g.5940243G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5880183G>A" "" "VUS" "" "0000000124" "0" "50" "1" "5935064" "5935064" "subst" "0.00279209" "00002" "NPHP4_000003" "g.5935064T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5875004T>C" "" "likely pathogenic (recessive)" "" "0000000125" "0" "50" "1" "5935064" "5935064" "subst" "0.00279209" "00002" "NPHP4_000003" "g.5935064T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5875004T>C" "" "VUS" "" "0000019537" "0" "55" "1" "6046239" "6046239" "subst" "0" "00102" "NPHP4_000005" "g.6046239C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.5986179C>T" "" "VUS" "" "0000019538" "0" "55" "1" "5927147" "5927147" "del" "0" "00102" "NPHP4_000004" "g.5927147del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.5867087del" "" "VUS" "" "0000059950" "1" "10" "1" "5935076" "5935076" "subst" "0.000242278" "00229" "NPHP4_000001" "g.5935076C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "yes" "" "0" "" "" "g.5875016C>T" "" "benign" "" "0000059951" "2" "50" "1" "5927887" "5927887" "subst" "5.6912E-5" "00229" "NPHP4_000007" "g.5927887C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5867827C>T" "" "VUS" "" "0000245513" "0" "10" "1" "5935175" "5935175" "subst" "0" "02330" "NPHP4_000037" "g.5935175A>C" "" "" "" "NPHP4(NM_015102.5):c.2818-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5875115A>C" "" "benign" "" "0000247859" "0" "10" "1" "5935162" "5935162" "subst" "0.82766" "02325" "NPHP4_000102" "g.5935162A>T" "" "" "" "NPHP4(NM_015102.4):c.2818-2T>A, NPHP4(NM_015102.5):c.2818-2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5875102=" "" "benign" "" "0000250641" "0" "10" "1" "5935162" "5935162" "subst" "0.82766" "02326" "NPHP4_000102" "g.5935162A>T" "" "" "" "NPHP4(NM_015102.4):c.2818-2T>A, NPHP4(NM_015102.5):c.2818-2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5875102=" "" "benign" "" "0000251228" "0" "10" "1" "5926584" "5926584" "del" "0" "02326" "NPHP4_000018" "g.5926584del" "" "" "" "NPHP4(NM_015102.5):c.3559-64delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5866524del" "" "benign" "" "0000252993" "0" "10" "1" "5935162" "5935162" "subst" "0.82766" "01943" "NPHP4_000102" "g.5935162A>T" "" "" "" "NPHP4(NM_015102.4):c.2818-2T>A, NPHP4(NM_015102.5):c.2818-2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5875102=" "" "benign" "" "0000254469" "0" "30" "1" "5947524" "5947524" "subst" "0" "01943" "NPHP4_000048" "g.5947524A>G" "" "" "" "NPHP4(NM_015102.4):c.2307T>C (p.H769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5887464A>G" "" "likely benign" "" "0000255962" "0" "50" "1" "6038425" "6038425" "subst" "0" "01943" "NPHP4_000095" "g.6038425A>C" "" "" "" "NPHP4(NM_015102.4):c.184T>G (p.F62V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5978365A>C" "" "VUS" "" "0000256319" "0" "50" "1" "5993352" "5993352" "subst" "4.09172E-6" "01943" "NPHP4_000076" "g.5993352A>G" "" "" "" "NPHP4(NM_015102.4):c.1157T>C (p.M386T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5933292A>G" "" "VUS" "" "0000293197" "0" "50" "1" "6007259" "6007259" "subst" "0.00167742" "02330" "NPHP4_000081" "g.6007259G>A" "" "" "" "NPHP4(NM_015102.3):c.1024C>T (p.(Arg342Cys)), NPHP4(NM_015102.4):c.1024C>T (p.R342C), NPHP4(NM_015102.5):c.1024C>T (p.R342C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5947199G>A" "" "VUS" "" "0000293198" "0" "10" "1" "5993402" "5993402" "subst" "0.000485523" "02330" "NPHP4_000077" "g.5993402C>A" "" "" "" "NPHP4(NM_015102.5):c.1120-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5933342C>A" "" "benign" "" "0000293199" "0" "10" "1" "6038478" "6038478" "del" "0" "02330" "NPHP4_000097" "g.6038478del" "" "" "" "NPHP4(NM_015102.3):c.136-4del (p.?), NPHP4(NM_015102.5):c.136-4delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5978418del" "" "benign" "" "0000293201" "0" "10" "1" "5969280" "5969280" "subst" "0.00145786" "02330" "NPHP4_000070" "g.5969280G>A" "" "" "" "NPHP4(NM_015102.5):c.1442-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5909220G>A" "" "benign" "" "0000293202" "0" "50" "1" "5969270" "5969270" "subst" "0.000130798" "02330" "NPHP4_000069" "g.5969270G>A" "" "" "" "NPHP4(NM_015102.5):c.1445C>T (p.P482L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5909210G>A" "" "VUS" "" "0000293203" "0" "10" "1" "5969202" "5969202" "subst" "0.00340741" "02330" "NPHP4_000066" "g.5969202C>T" "" "" "" "NPHP4(NM_015102.5):c.1503+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5909142C>T" "" "benign" "" "0000293204" "0" "10" "1" "5967244" "5967244" "subst" "0.00133911" "02330" "NPHP4_000064" "g.5967244C>T" "" "" "" "NPHP4(NM_015102.4):c.1542G>A (p.P514=), NPHP4(NM_015102.5):c.1542G>A (p.P514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5907184C>T" "" "benign" "" "0000293205" "0" "10" "1" "5965750" "5965750" "subst" "0.00103321" "02330" "NPHP4_000061" "g.5965750G>C" "" "" "" "NPHP4(NM_015102.5):c.1705C>G (p.Q569E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905690G>C" "" "benign" "" "0000293206" "0" "90" "1" "5964848" "5964848" "subst" "8.12301E-6" "02330" "NPHP4_000052" "g.5964848G>A" "" "" "" "NPHP4(NM_015102.5):c.1972C>T (p.R658*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5904788G>A" "" "pathogenic" "" "0000293207" "0" "10" "1" "5950975" "5950975" "subst" "0.000726231" "02330" "NPHP4_000050" "g.5950975C>T" "" "" "" "NPHP4(NM_015102.3):c.2257G>A (p.(Asp753Asn)), NPHP4(NM_015102.4):c.2257G>A (p.D753N), NPHP4(NM_015102.5):c.2257G>A (p.D753N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5890915C>T" "" "benign" "" "0000293208" "0" "30" "1" "5947400" "5947400" "subst" "0" "02330" "NPHP4_000046" "g.5947400T>C" "" "" "" "NPHP4(NM_015102.5):c.2431A>G (p.I811V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5887340T>C" "" "likely benign" "" "0000293209" "0" "10" "1" "5937283" "5937283" "subst" "0.00020274" "02330" "NPHP4_000039" "g.5937283C>T" "" "" "" "NPHP4(NM_015102.5):c.2687G>A (p.R896Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5877223C>T" "" "benign" "" "0000293210" "0" "10" "1" "5937283" "5937283" "subst" "0" "02330" "NPHP4_000040" "g.5937283C>A" "" "" "" "NPHP4(NM_015102.5):c.2687G>T (p.R896L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5877223C>A" "" "benign" "" "0000293211" "0" "10" "1" "6038319" "6038319" "subst" "0.000816236" "02330" "NPHP4_000094" "g.6038319C>T" "" "" "" "NPHP4(NM_015102.5):c.279+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5978259C>T" "" "benign" "" "0000293212" "0" "10" "1" "5935092" "5935092" "subst" "5.36742E-5" "02330" "NPHP4_000035" "g.5935092C>T" "" "" "" "NPHP4(NM_015102.4):c.2886G>A (p.T962=), NPHP4(NM_015102.5):c.2886G>A (p.T962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5875032C>T" "" "benign" "" "0000293213" "0" "30" "1" "5935076" "5935076" "subst" "0.000242278" "02330" "NPHP4_000001" "g.5935076C>T" "" "" "" "NPHP4(NM_015102.4):c.2902G>A (p.A968T), NPHP4(NM_015102.5):c.2902G>A (p.A968T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5875016C>T" "" "likely benign" "" "0000293214" "0" "30" "1" "5935064" "5935064" "subst" "0.00279209" "02330" "NPHP4_000003" "g.5935064T>C" "" "" "" "NPHP4(NM_015102.4):c.2914A>G (p.S972G), NPHP4(NM_015102.5):c.2914A>G (p.S972G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5875004T>C" "" "likely benign" "" "0000293215" "0" "10" "1" "5935026" "5935026" "subst" "8.55251E-5" "02330" "NPHP4_000033" "g.5935026C>T" "" "" "" "NPHP4(NM_015102.4):c.2952G>A (p.T984=), NPHP4(NM_015102.5):c.2952G>A (p.T984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5874966C>T" "" "benign" "" "0000293216" "0" "10" "1" "5934657" "5934657" "subst" "0.000133105" "02330" "NPHP4_000030" "g.5934657C>T" "" "" "" "NPHP4(NM_015102.4):c.3105G>A (p.P1035=), NPHP4(NM_015102.5):c.3105G>A (p.P1035=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5874597C>T" "" "benign" "" "0000293217" "0" "10" "1" "5934588" "5934588" "subst" "0.000176155" "02330" "NPHP4_000028" "g.5934588G>A" "" "" "" "NPHP4(NM_015102.4):c.3174C>T (p.T1058=), NPHP4(NM_015102.5):c.3174C>T (p.T1058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5874528G>A" "" "benign" "" "0000293218" "0" "30" "1" "5927943" "5927943" "subst" "0.00368748" "02330" "NPHP4_000024" "g.5927943G>A" "" "" "" "NPHP4(NM_015102.3):c.3329C>T (p.(Ala1110Val)), NPHP4(NM_015102.4):c.3329C>T (p.A1110V), NPHP4(NM_015102.5):c.3329C>T (p.A1110V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5867883G>A" "" "likely benign" "" "0000293219" "0" "10" "1" "5927921" "5927921" "subst" "4.87575E-5" "02330" "NPHP4_000023" "g.5927921G>A" "" "" "" "NPHP4(NM_015102.5):c.3351C>T (p.A1117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5867861G>A" "" "benign" "" "0000293220" "0" "10" "1" "6029245" "6029245" "subst" "0.000171039" "02330" "NPHP4_000093" "g.6029245T>C" "" "" "" "NPHP4(NM_015102.5):c.354A>G (p.K118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5969185T>C" "" "benign" "" "0000293221" "0" "30" "1" "5926537" "5926537" "del" "0.00250182" "02330" "NPHP4_000017" "g.5926537del" "" "" "" "NPHP4(NM_015102.5):c.3559-19delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5866477del" "" "likely benign" "" "0000293222" "0" "30" "1" "5923991" "5923991" "subst" "6.09588E-5" "02330" "NPHP4_000010" "g.5923991C>T" "" "" "" "NPHP4(NM_015102.5):c.4099G>A (p.D1367N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5863931C>T" "" "likely benign" "" "0000293223" "0" "10" "1" "5923976" "5923976" "subst" "0.000377892" "02330" "NPHP4_000009" "g.5923976G>A" "" "" "" "NPHP4(NM_015102.4):c.4114C>T (p.L1372=), NPHP4(NM_015102.5):c.4114C>T (p.L1372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5863916G>A" "" "benign" "" "0000293224" "0" "30" "1" "5923476" "5923476" "subst" "0.000622619" "02330" "NPHP4_000008" "g.5923476G>A" "" "" "" "NPHP4(NM_015102.5):c.4141-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5863416G>A" "" "likely benign" "" "0000293225" "0" "50" "1" "6029180" "6029180" "subst" "8.52672E-5" "02330" "NPHP4_000092" "g.6029180G>A" "" "" "" "NPHP4(NM_015102.5):c.419C>T (p.P140L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5969120G>A" "" "VUS" "" "0000293226" "0" "10" "1" "6027365" "6027365" "subst" "0.000880173" "02330" "NPHP4_000089" "g.6027365C>T" "" "" "" "NPHP4(NM_015102.5):c.511G>A (p.A171T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5967305C>T" "" "benign" "" "0000293227" "0" "50" "1" "6046343" "6046343" "subst" "0.000394655" "02330" "NPHP4_000099" "g.6046343C>A" "" "" "" "NPHP4(NM_015102.4):c.7G>T (p.D3Y), NPHP4(NM_015102.5):c.7G>T (p.D3Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5986283C>A" "" "VUS" "" "0000293228" "0" "30" "1" "6008178" "6008178" "subst" "0.00115006" "02330" "NPHP4_000083" "g.6008178G>A" "" "" "" "NPHP4(NM_015102.4):c.944C>T (p.T315M), NPHP4(NM_015102.5):c.944C>T (p.T315M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5948118G>A" "" "likely benign" "" "0000296591" "0" "10" "1" "5948677" "5948677" "subst" "0" "02325" "NPHP4_000049" "g.5948677G>A" "" "" "" "NPHP4(NM_015102.5):c.2305-1151C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5888617G>A" "" "benign" "" "0000296592" "0" "10" "1" "5940243" "5940243" "subst" "0.0155048" "02325" "NPHP4_000002" "g.5940243G>A" "" "" "" "NPHP4(NM_001291593.1):c.1003C>T (p.(Arg335Trp)), NPHP4(NM_015102.4):c.2542C>T (p.R848W), NPHP4(NM_015102.5):c.2542C>T (p.R848W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5880183G>A" "" "benign" "" "0000296593" "0" "10" "1" "5937327" "5937327" "subst" "0.131776" "02325" "NPHP4_000042" "g.5937327C>T" "" "" "" "NPHP4(NM_015102.4):c.2643G>A (p.A881=), NPHP4(NM_015102.5):c.2643G>A (p.A881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5877267C>T" "" "benign" "" "0000296594" "0" "10" "1" "5937168" "5937168" "subst" "0.42888" "02325" "NPHP4_000038" "g.5937168G>A" "" "" "" "NPHP4(NM_015102.4):c.2802C>T (p.R934=), NPHP4(NM_015102.5):c.2802C>T (p.R934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5877108G>A" "" "benign" "" "0000296595" "0" "10" "1" "5926507" "5926507" "subst" "0.393498" "02325" "NPHP4_000016" "g.5926507T>C" "" "" "" "NPHP4(NM_015102.4):c.3570A>G (p.E1190=), NPHP4(NM_015102.5):c.3570A>G (p.E1190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5866447T>C" "" "benign" "" "0000300354" "0" "10" "1" "5969245" "5969245" "subst" "0.0294167" "02326" "NPHP4_000068" "g.5969245G>A" "" "" "" "NPHP4(NM_015102.4):c.1470C>T (p.L490=), NPHP4(NM_015102.5):c.1470C>T (p.L490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5909185G>A" "" "benign" "" "0000300355" "0" "10" "1" "5969225" "5969225" "subst" "0.00536267" "02326" "NPHP4_000067" "g.5969225G>C" "" "" "" "NPHP4(NM_015102.5):c.1490C>G (p.P497R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5909165G>C" "" "benign" "" "0000300356" "0" "10" "1" "5969202" "5969202" "subst" "0.00340741" "02326" "NPHP4_000066" "g.5969202C>T" "" "" "" "NPHP4(NM_015102.5):c.1503+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5909142C>T" "" "benign" "" "0000300357" "0" "10" "1" "5969139" "5969139" "subst" "0" "02326" "NPHP4_000065" "g.5969139G>A" "" "" "" "NPHP4(NM_015102.5):c.1503+73C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5909079G>A" "" "benign" "" "0000300358" "0" "10" "1" "5965824" "5965824" "subst" "0.00770998" "02326" "NPHP4_000062" "g.5965824G>C" "" "" "" "NPHP4(NM_001291593.1):c.92C>G (p.(Ala31Gly)), NPHP4(NM_015102.4):c.1631C>G (p.A544G), NPHP4(NM_015102.5):c.1631C>G (p.A544G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905764G>C" "" "benign" "" "0000300359" "0" "10" "1" "5965455" "5965455" "subst" "0.0102836" "02326" "NPHP4_000058" "g.5965455C>T" "" "" "" "NPHP4(NM_015102.3):c.1852G>A (p.(Glu618Lys)), NPHP4(NM_015102.4):c.1852G>A (p.E618K), NPHP4(NM_015102.5):c.1852G>A (p.E618K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905395C>T" "" "benign" "" "0000300360" "0" "30" "1" "5965427" "5965427" "subst" "0.000203047" "02326" "NPHP4_000056" "g.5965427G>A" "" "" "" "NPHP4(NM_015102.5):c.1880C>T (p.(Thr627Met), p.T627M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905367G>A" "" "likely benign" "" "0000300361" "0" "10" "1" "5951013" "5951013" "subst" "0.0249055" "02326" "NPHP4_000051" "g.5951013C>T" "" "" "" "NPHP4(NM_015102.4):c.2219G>A (p.R740H), NPHP4(NM_015102.5):c.2219G>A (p.R740H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5890953C>T" "" "benign" "" "0000300362" "0" "10" "1" "5940243" "5940243" "subst" "0.0155048" "02326" "NPHP4_000002" "g.5940243G>A" "" "" "" "NPHP4(NM_001291593.1):c.1003C>T (p.(Arg335Trp)), NPHP4(NM_015102.4):c.2542C>T (p.R848W), NPHP4(NM_015102.5):c.2542C>T (p.R848W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5880183G>A" "" "benign" "" "0000300363" "0" "10" "1" "5939837" "5939837" "subst" "0" "02326" "NPHP4_000043" "g.5939837G>A" "" "" "" "NPHP4(NM_015102.5):c.2611+337C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5879777G>A" "" "benign" "" "0000300364" "0" "10" "1" "5935102" "5935102" "subst" "0.00264188" "02326" "NPHP4_000036" "g.5935102C>T" "" "" "" "NPHP4(NM_015102.5):c.2876G>A (p.R959Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5875042C>T" "" "benign" "" "0000300365" "0" "30" "1" "5935064" "5935064" "subst" "0.00279209" "02326" "NPHP4_000003" "g.5935064T>C" "" "" "" "NPHP4(NM_015102.4):c.2914A>G (p.S972G), NPHP4(NM_015102.5):c.2914A>G (p.S972G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5875004T>C" "" "likely benign" "" "0000300366" "0" "10" "1" "5934887" "5934887" "subst" "0.0290607" "02326" "NPHP4_000031" "g.5934887C>T" "" "" "" "NPHP4(NM_015102.5):c.3044+47G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5874827C>T" "" "benign" "" "0000300367" "0" "10" "1" "5927169" "5927169" "subst" "0.0109196" "02326" "NPHP4_000020" "g.5927169G>A" "" "" "" "NPHP4(NM_001291593.1):c.1940C>T (p.(Pro647Leu)), NPHP4(NM_015102.4):c.3479C>T (p.P1160L), NPHP4(NM_015102.5):c.3479C>T (p.P1160L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5867109G>A" "" "benign" "" "0000300368" "0" "10" "1" "6029100" "6029101" "del" "0" "02326" "NPHP4_000090" "g.6029100_6029101del" "" "" "" "NPHP4(NM_015102.5):c.452+59_452+60delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5969040_5969041del" "" "benign" "" "0000300369" "0" "10" "1" "6029101" "6029101" "del" "0" "02326" "NPHP4_000091" "g.6029101del" "" "" "" "NPHP4(NM_015102.5):c.452+60delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5969041del" "" "benign" "" "0000300370" "0" "10" "1" "6012780" "6012780" "subst" "8.19197E-5" "02326" "NPHP4_000086" "g.6012780C>T" "" "" "" "NPHP4(NM_015102.5):c.790G>A (p.V264I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5952720C>T" "" "benign" "" "0000300371" "0" "10" "1" "6046264" "6046264" "subst" "0.0294331" "02326" "NPHP4_000098" "g.6046264G>A" "" "" "" "NPHP4(NM_015102.3):c.86C>T (p.(Thr29Met)), NPHP4(NM_015102.4):c.86C>T (p.T29M), NPHP4(NM_015102.5):c.86C>T (p.T29M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5986204G>A" "" "benign" "" "0000300372" "0" "10" "1" "6007346" "6007346" "subst" "0" "02326" "NPHP4_000082" "g.6007346G>A" "" "" "" "NPHP4(NM_015102.5):c.993-56C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5947286G>A" "" "benign" "" "0000304462" "0" "50" "1" "6007259" "6007259" "subst" "0.00167742" "01943" "NPHP4_000081" "g.6007259G>A" "" "" "" "NPHP4(NM_015102.3):c.1024C>T (p.(Arg342Cys)), NPHP4(NM_015102.4):c.1024C>T (p.R342C), NPHP4(NM_015102.5):c.1024C>T (p.R342C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5947199G>A" "" "VUS" "" "0000304463" "0" "30" "1" "6007194" "6007194" "subst" "0.000812176" "01943" "NPHP4_000079" "g.6007194C>A" "" "" "" "NPHP4(NM_015102.4):c.1089G>T (p.V363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5947134C>A" "" "likely benign" "" "0000304464" "0" "50" "1" "6007165" "6007165" "subst" "4.06088E-5" "01943" "NPHP4_000078" "g.6007165T>C" "" "" "" "NPHP4(NM_015102.4):c.1118A>G (p.N373S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5947105T>C" "" "VUS" "" "0000304465" "0" "30" "1" "6038471" "6038471" "subst" "0.000358788" "01943" "NPHP4_000096" "g.6038471G>A" "" "" "" "NPHP4(NM_015102.4):c.138C>T (p.G46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5978411G>A" "" "likely benign" "" "0000304466" "0" "50" "1" "5987711" "5987711" "subst" "6.53723E-5" "01943" "NPHP4_000072" "g.5987711G>A" "" "" "" "NPHP4(NM_015102.4):c.1439C>T (p.S480L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5927651G>A" "" "VUS" "" "0000304467" "0" "10" "1" "5987696" "5987696" "subst" "0.145784" "01943" "NPHP4_000071" "g.5987696T>C" "" "" "" "NPHP4(NM_015102.4):c.1441+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5927636T>C" "" "benign" "" "0000304468" "0" "10" "1" "5969245" "5969245" "subst" "0.0294167" "01943" "NPHP4_000068" "g.5969245G>A" "" "" "" "NPHP4(NM_015102.4):c.1470C>T (p.L490=), NPHP4(NM_015102.5):c.1470C>T (p.L490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5909185G>A" "" "benign" "" "0000304469" "0" "10" "1" "5967244" "5967244" "subst" "0.00133911" "01943" "NPHP4_000064" "g.5967244C>T" "" "" "" "NPHP4(NM_015102.4):c.1542G>A (p.P514=), NPHP4(NM_015102.5):c.1542G>A (p.P514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5907184C>T" "" "benign" "" "0000304470" "0" "50" "1" "5965854" "5965854" "subst" "2.34071E-5" "01943" "NPHP4_000063" "g.5965854C>T" "" "" "" "NPHP4(NM_015102.4):c.1612-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905794C>T" "" "VUS" "" "0000304471" "0" "10" "1" "5965824" "5965824" "subst" "0.00770998" "01943" "NPHP4_000062" "g.5965824G>C" "" "" "" "NPHP4(NM_001291593.1):c.92C>G (p.(Ala31Gly)), NPHP4(NM_015102.4):c.1631C>G (p.A544G), NPHP4(NM_015102.5):c.1631C>G (p.A544G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905764G>C" "" "benign" "" "0000304472" "0" "10" "1" "5965686" "5965686" "subst" "0" "01943" "NPHP4_000060" "g.5965686C>A" "" "" "" "NPHP4(NM_015102.4):c.1763+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905626C>A" "" "benign" "" "0000304473" "0" "30" "1" "5965548" "5965548" "subst" "0.000298545" "01943" "NPHP4_000059" "g.5965548G>A" "" "" "" "NPHP4(NM_015102.4):c.1764-5C>T, NPHP4(NM_015102.5):c.1764-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905488G>A" "" "likely benign" "" "0000304474" "0" "30" "1" "5965455" "5965455" "subst" "0.0102836" "01943" "NPHP4_000058" "g.5965455C>T" "" "" "" "NPHP4(NM_015102.3):c.1852G>A (p.(Glu618Lys)), NPHP4(NM_015102.4):c.1852G>A (p.E618K), NPHP4(NM_015102.5):c.1852G>A (p.E618K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905395C>T" "" "likely benign" "" "0000304475" "0" "30" "1" "5965440" "5965440" "subst" "0.000255846" "01943" "NPHP4_000057" "g.5965440T>C" "" "" "" "NPHP4(NM_015102.4):c.1867A>G (p.T623A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905380T>C" "" "likely benign" "" "0000304476" "0" "30" "1" "5965384" "5965384" "subst" "0.000166499" "01943" "NPHP4_000055" "g.5965384G>A" "" "" "" "NPHP4(NM_015102.4):c.1923C>T (p.N641=), NPHP4(NM_015102.5):c.1923C>T (p.N641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905324G>A" "" "likely benign" "" "0000304477" "0" "10" "1" "5965381" "5965381" "subst" "0.132025" "01943" "NPHP4_000054" "g.5965381C>T" "" "" "" "NPHP4(NM_015102.4):c.1926G>A (p.E642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905321C>T" "" "benign" "" "0000304478" "0" "30" "1" "5964854" "5964854" "subst" "0.00138504" "01943" "NPHP4_000053" "g.5964854C>T" "" "" "" "NPHP4(NM_015102.4):c.1966G>A (p.D656N), NPHP4(NM_015102.5):c.1966G>A (p.D656N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5904794C>T" "" "likely benign" "" "0000304479" "0" "10" "1" "5951013" "5951013" "subst" "0.0249055" "01943" "NPHP4_000051" "g.5951013C>T" "" "" "" "NPHP4(NM_015102.4):c.2219G>A (p.R740H), NPHP4(NM_015102.5):c.2219G>A (p.R740H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5890953C>T" "" "benign" "" "0000304480" "0" "50" "1" "5947504" "5947504" "subst" "0.00015056" "01943" "NPHP4_000047" "g.5947504G>C" "" "" "" "NPHP4(NM_015102.4):c.2327C>G (p.P776R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5887444G>C" "" "VUS" "" "0000304481" "0" "50" "1" "5947373" "5947373" "subst" "0.000322236" "01943" "NPHP4_000045" "g.5947373G>A" "" "" "" "NPHP4(NM_015102.4):c.2458C>T (p.R820W), NPHP4(NM_015102.5):c.2458C>T (p.R820W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5887313G>A" "" "VUS" "" "0000304482" "0" "30" "1" "5940294" "5940294" "subst" "0" "01943" "NPHP4_000044" "g.5940294G>T" "" "" "" "NPHP4(NM_015102.4):c.2491C>A (p.P831T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5880234G>T" "" "likely benign" "" "0000304483" "0" "30" "1" "5940243" "5940243" "subst" "0.0155048" "01943" "NPHP4_000002" "g.5940243G>A" "" "" "" "NPHP4(NM_001291593.1):c.1003C>T (p.(Arg335Trp)), NPHP4(NM_015102.4):c.2542C>T (p.R848W), NPHP4(NM_015102.5):c.2542C>T (p.R848W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5880183G>A" "" "likely benign" "" "0000304484" "0" "10" "1" "5937327" "5937327" "subst" "0.131776" "01943" "NPHP4_000042" "g.5937327C>T" "" "" "" "NPHP4(NM_015102.4):c.2643G>A (p.A881=), NPHP4(NM_015102.5):c.2643G>A (p.A881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5877267C>T" "" "benign" "" "0000304485" "0" "50" "1" "5937323" "5937323" "subst" "2.07589E-5" "01943" "NPHP4_000041" "g.5937323C>T" "" "" "" "NPHP4(NM_015102.4):c.2647G>A (p.V883M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5877263C>T" "" "VUS" "" "0000304486" "0" "10" "1" "5937168" "5937168" "subst" "0.42888" "01943" "NPHP4_000038" "g.5937168G>A" "" "" "" "NPHP4(NM_015102.4):c.2802C>T (p.R934=), NPHP4(NM_015102.5):c.2802C>T (p.R934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5877108G>A" "" "benign" "" "0000304487" "0" "30" "1" "5935092" "5935092" "subst" "5.36742E-5" "01943" "NPHP4_000035" "g.5935092C>T" "" "" "" "NPHP4(NM_015102.4):c.2886G>A (p.T962=), NPHP4(NM_015102.5):c.2886G>A (p.T962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5875032C>T" "" "likely benign" "" "0000304488" "0" "30" "1" "5935064" "5935064" "subst" "0.00279209" "01943" "NPHP4_000003" "g.5935064T>C" "" "" "" "NPHP4(NM_015102.4):c.2914A>G (p.S972G), NPHP4(NM_015102.5):c.2914A>G (p.S972G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5875004T>C" "" "likely benign" "" "0000304489" "0" "50" "1" "5935039" "5935039" "subst" "7.34478E-5" "01943" "NPHP4_000034" "g.5935039G>A" "" "" "" "NPHP4(NM_015102.4):c.2939C>T (p.T980M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5874979G>A" "" "VUS" "" "0000304490" "0" "30" "1" "5934594" "5934594" "subst" "0.000710489" "01943" "NPHP4_000029" "g.5934594G>A" "" "" "" "NPHP4(NM_015102.4):c.3168C>T (p.H1056=), NPHP4(NM_015102.5):c.3168C>T (p.H1056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5874534G>A" "" "likely benign" "" "0000304491" "0" "30" "1" "5933384" "5933384" "subst" "0.0143857" "01943" "NPHP4_000026" "g.5933384C>G" "" "" "" "NPHP4(NM_015102.4):c.3243G>C (p.G1081=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5873324C>G" "" "likely benign" "" "0000304492" "0" "50" "1" "5933335" "5933335" "subst" "0.000694518" "01943" "NPHP4_000025" "g.5933335C>T" "" "" "" "NPHP4(NM_015102.3):c.3292G>A (p.(Ala1098Thr)), NPHP4(NM_015102.4):c.3292G>A (p.A1098T), NPHP4(NM_015102.5):c.3292G>A (p.A1098T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5873275C>T" "" "VUS" "" "0000304493" "0" "30" "1" "5927943" "5927943" "subst" "0.00368748" "01943" "NPHP4_000024" "g.5927943G>A" "" "" "" "NPHP4(NM_015102.3):c.3329C>T (p.(Ala1110Val)), NPHP4(NM_015102.4):c.3329C>T (p.A1110V), NPHP4(NM_015102.5):c.3329C>T (p.A1110V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5867883G>A" "" "likely benign" "" "0000304494" "0" "50" "1" "5927920" "5927920" "subst" "9.75126E-5" "01943" "NPHP4_000022" "g.5927920C>T" "" "" "" "NPHP4(NM_015102.4):c.3352G>A (p.V1118M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5867860C>T" "" "VUS" "" "0000304495" "0" "50" "1" "5927859" "5927859" "subst" "0" "01943" "NPHP4_000021" "g.5927859T>A" "" "" "" "NPHP4(NM_015102.4):c.3413A>T (p.H1138L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5867799T>A" "" "VUS" "" "0000304496" "0" "50" "1" "5927130" "5927130" "subst" "0.000200343" "01943" "NPHP4_000019" "g.5927130C>T" "" "" "" "NPHP4(NM_015102.4):c.3518G>A (p.R1173H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5867070C>T" "" "VUS" "" "0000304497" "0" "10" "1" "5926507" "5926507" "subst" "0.393498" "01943" "NPHP4_000016" "g.5926507T>C" "" "" "" "NPHP4(NM_015102.4):c.3570A>G (p.E1190=), NPHP4(NM_015102.5):c.3570A>G (p.E1190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5866447T>C" "" "benign" "" "0000304498" "0" "30" "1" "5925348" "5925348" "subst" "0.00038119" "01943" "NPHP4_000014" "g.5925348G>A" "" "" "" "NPHP4(NM_015102.4):c.3645-15C>T, NPHP4(NM_015102.5):c.3645-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5865288G>A" "" "likely benign" "" "0000304499" "0" "30" "1" "5925216" "5925216" "subst" "4.06491E-6" "01943" "NPHP4_000013" "g.5925216C>T" "" "" "" "NPHP4(NM_015102.4):c.3762G>A (p.G1254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5865156C>T" "" "likely benign" "" "0000304500" "0" "30" "1" "5924467" "5924467" "subst" "2.06731E-5" "01943" "NPHP4_000012" "g.5924467G>A" "" "" "" "NPHP4(NM_015102.4):c.3927C>T (p.D1309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5864407G>A" "" "likely benign" "" "0000304501" "0" "50" "1" "5924056" "5924056" "subst" "0.000293298" "01943" "NPHP4_000011" "g.5924056C>T" "" "" "" "NPHP4(NM_015102.4):c.4034G>A (p.G1345D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5863996C>T" "" "VUS" "" "0000304502" "0" "30" "1" "6021949" "6021949" "subst" "0.000195035" "01943" "NPHP4_000088" "g.6021949G>A" "" "" "" "NPHP4(NM_015102.4):c.578C>T (p.P193L), NPHP4(NM_015102.5):c.578C>T (p.P193L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5961889G>A" "" "likely benign" "" "0000304503" "0" "50" "1" "6046343" "6046343" "subst" "0.000394655" "01943" "NPHP4_000099" "g.6046343C>A" "" "" "" "NPHP4(NM_015102.4):c.7G>T (p.D3Y), NPHP4(NM_015102.5):c.7G>T (p.D3Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5986283C>A" "" "VUS" "" "0000304504" "0" "30" "1" "6012770" "6012770" "subst" "0.000962402" "01943" "NPHP4_000085" "g.6012770T>A" "" "" "" "NPHP4(NM_015102.4):c.800A>T (p.H267L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5952710T>A" "" "likely benign" "" "0000304505" "0" "10" "1" "6046264" "6046264" "subst" "0.0294331" "01943" "NPHP4_000098" "g.6046264G>A" "" "" "" "NPHP4(NM_015102.3):c.86C>T (p.(Thr29Met)), NPHP4(NM_015102.4):c.86C>T (p.T29M), NPHP4(NM_015102.5):c.86C>T (p.T29M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5986204G>A" "" "benign" "" "0000320484" "0" "30" "1" "5927169" "5927169" "subst" "0.0109196" "01804" "NPHP4_000020" "g.5927169G>A" "" "" "" "NPHP4(NM_001291593.1):c.1940C>T (p.(Pro647Leu)), NPHP4(NM_015102.4):c.3479C>T (p.P1160L), NPHP4(NM_015102.5):c.3479C>T (p.P1160L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5867109G>A" "" "likely benign" "" "0000320485" "0" "30" "1" "5927943" "5927943" "subst" "0.00368748" "01804" "NPHP4_000024" "g.5927943G>A" "" "" "" "NPHP4(NM_015102.3):c.3329C>T (p.(Ala1110Val)), NPHP4(NM_015102.4):c.3329C>T (p.A1110V), NPHP4(NM_015102.5):c.3329C>T (p.A1110V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5867883G>A" "" "likely benign" "" "0000320487" "0" "50" "1" "5935013" "5935013" "subst" "0.000447562" "01804" "NPHP4_000032" "g.5935013C>T" "" "" "" "NPHP4(NM_015102.4):c.2965G>A (p.E989K), NPHP4(NM_015102.5):c.2965G>A (p.(Glu989Lys), p.E989K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5874953C>T" "" "VUS" "" "0000320488" "0" "30" "1" "5965455" "5965455" "subst" "0.0102836" "01804" "NPHP4_000058" "g.5965455C>T" "" "" "" "NPHP4(NM_015102.3):c.1852G>A (p.(Glu618Lys)), NPHP4(NM_015102.4):c.1852G>A (p.E618K), NPHP4(NM_015102.5):c.1852G>A (p.E618K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5905395C>T" "" "likely benign" "" "0000320491" "0" "50" "1" "6007216" "6007216" "subst" "0" "01804" "NPHP4_000080" "g.6007216A>G" "" "" "" "NPHP4(NM_015102.3):c.1067T>C (p.(Val356Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5947156A>G" "" "VUS" "" "0000320492" "0" "50" "1" "6007259" "6007259" "subst" "0.00167742" "01804" "NPHP4_000081" "g.6007259G>A" "" "" "" "NPHP4(NM_015102.3):c.1024C>T (p.(Arg342Cys)), NPHP4(NM_015102.4):c.1024C>T (p.R342C), NPHP4(NM_015102.5):c.1024C>T (p.R342C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5947199G>A" "" "VUS" "" "0000320493" "0" "30" "1" "6008220" "6008220" "subst" "0.000187353" "01804" "NPHP4_000084" "g.6008220G>A" "" "" "" "NPHP4(NM_015102.3):c.902C>T (p.(Pro301Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5948160G>A" "" "likely benign" "" "0000320495" "0" "50" "1" "6111682" "6111682" "subst" "3.11352E-5" "01804" "KCNAB2_000001" "g.6111682C>T" "" "" "" "KCNAB2(NM_001199862.1):c.86C>T (p.(Thr29Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6051622C>T" "" "VUS" "" "0000320496" "0" "50" "1" "6111718" "6111718" "subst" "0.00158967" "01804" "KCNAB2_000002" "g.6111718G>A" "" "" "" "KCNAB2(NM_001199862.1):c.122G>A (p.(Arg41Gln)), KCNAB2(NM_001199862.2):c.122G>A (p.R41Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6051658G>A" "" "VUS" "" "0000340253" "0" "10" "1" "5924518" "5924518" "subst" "0.00928264" "02327" "NPHP4_000100" "g.5924518G>A" "" "" "" "NPHP4(NM_015102.5):c.3876C>T (p.(Gly1292=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5864458G>A" "" "benign" "" "0000340254" "0" "10" "1" "5926507" "5926507" "subst" "0.393498" "02327" "NPHP4_000016" "g.5926507T>C" "" "" "" "NPHP4(NM_015102.4):c.3570A>G (p.E1190=), NPHP4(NM_015102.5):c.3570A>G (p.E1190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5866447T>C" "" "benign" "" "0000340255" "0" "10" "1" "5937168" "5937168" "subst" "0.42888" "02327" "NPHP4_000038" "g.5937168G>A" "" "" "" "NPHP4(NM_015102.4):c.2802C>T (p.R934=), NPHP4(NM_015102.5):c.2802C>T (p.R934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5877108G>A" "" "benign" "" "0000342683" "0" "30" "1" "6007259" "6007259" "subst" "0.00167742" "02327" "NPHP4_000081" "g.6007259G>A" "" "" "" "NPHP4(NM_015102.3):c.1024C>T (p.(Arg342Cys)), NPHP4(NM_015102.4):c.1024C>T (p.R342C), NPHP4(NM_015102.5):c.1024C>T (p.R342C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5947199G>A" "" "likely benign" "" "0000343895" "0" "90" "1" "6029228" "6029243" "del" "0" "02327" "NPHP4_000103" "g.6029228_6029243del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5969168_5969183del" "" "pathogenic" "" "0000344491" "0" "90" "1" "5934566" "5934566" "subst" "0" "02327" "NPHP4_000101" "g.5934566G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5874506G>A" "" "pathogenic" "" "0000348362" "0" "50" "1" "6008220" "6008220" "subst" "0.000187353" "02327" "NPHP4_000084" "g.6008220G>A" "" "" "" "NPHP4(NM_015102.3):c.902C>T (p.(Pro301Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5948160G>A" "" "VUS" "" "0000358293" "3" "90" "1" "5932827" "5940098" "del" "0" "01243" "NPHP4_000104" "g.5932827_5940098del" "" "Sharon, submitted" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000508018" "0" "50" "1" "5923427" "5923427" "subst" "0.00142714" "02330" "NPHP4_000105" "g.5923427A>T" "" "" "" "NPHP4(NM_015102.4):c.4179T>A (p.F1393L), NPHP4(NM_015102.5):c.4179T>A (p.F1393L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5863367A>T" "" "VUS" "" "0000508019" "0" "50" "1" "5923427" "5923427" "subst" "0.00142714" "01943" "NPHP4_000105" "g.5923427A>T" "" "" "" "NPHP4(NM_015102.4):c.4179T>A (p.F1393L), NPHP4(NM_015102.5):c.4179T>A (p.F1393L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5863367A>T" "" "VUS" "" "0000508020" "0" "50" "1" "5923427" "5923427" "subst" "0.00142714" "02325" "NPHP4_000105" "g.5923427A>T" "" "" "" "NPHP4(NM_015102.4):c.4179T>A (p.F1393L), NPHP4(NM_015102.5):c.4179T>A (p.F1393L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5863367A>T" "" "VUS" "" "0000508021" "0" "30" "1" "5923998" "5923998" "subst" "2.03174E-5" "01943" "NPHP4_000106" "g.5923998C>T" "" "" "" "NPHP4(NM_015102.4):c.4092G>A (p.L1364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5863938C>T" "" "likely benign" "" "0000508022" "0" "10" "1" "5924500" "5924500" "subst" "0.000906255" "02330" "NPHP4_000107" "g.5924500G>A" "" "" "" "NPHP4(NM_015102.5):c.3894C>T (p.A1298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5864440G>A" "" "benign" "" "0000508023" "0" "30" "1" "5924540" "5924540" "subst" "0" "02330" "NPHP4_000108" "g.5924540C>T" "" "" "" "NPHP4(NM_015102.5):c.3854G>A (p.G1285E, p.(Gly1285Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5864480C>T" "" "likely benign" "" "0000508024" "0" "30" "1" "5924557" "5924557" "subst" "9.9981E-5" "02330" "NPHP4_000109" "g.5924557G>A" "" "" "" "NPHP4(NM_015102.5):c.3837C>T (p.F1279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5864497G>A" "" "likely benign" "" "0000508025" "0" "10" "1" "5925168" "5925168" "subst" "4.06497E-6" "02330" "NPHP4_000110" "g.5925168C>T" "" "" "" "NPHP4(NM_015102.5):c.3810G>A (p.E1270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5865108C>T" "" "benign" "" "0000508026" "0" "50" "1" "5925304" "5925304" "subst" "0.00131813" "01943" "NPHP4_000111" "g.5925304G>A" "" "" "" "NPHP4(NM_015102.3):c.3674C>T (p.(Thr1225Met)), NPHP4(NM_015102.4):c.3674C>T (p.T1225M), NPHP4(NM_015102.5):c.3674C>T (p.T1225M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5865244G>A" "" "VUS" "" "0000508027" "0" "10" "1" "5926503" "5926503" "subst" "0.00182024" "02330" "NPHP4_000015" "g.5926503G>A" "" "" "" "NPHP4(NM_015102.4):c.3574C>T (p.R1192W), NPHP4(NM_015102.5):c.3574C>T (p.R1192W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5866443G>A" "" "benign" "" "0000508028" "0" "50" "1" "5926503" "5926503" "subst" "0.00182024" "01943" "NPHP4_000015" "g.5926503G>A" "" "" "" "NPHP4(NM_015102.4):c.3574C>T (p.R1192W), NPHP4(NM_015102.5):c.3574C>T (p.R1192W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5866443G>A" "" "VUS" "" "0000508029" "0" "30" "1" "5926537" "5926537" "del" "0.00250182" "02326" "NPHP4_000017" "g.5926537del" "" "" "" "NPHP4(NM_015102.5):c.3559-19delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5866477del" "" "likely benign" "" "0000508032" "0" "50" "1" "5933335" "5933335" "subst" "0.000694518" "01804" "NPHP4_000025" "g.5933335C>T" "" "" "" "NPHP4(NM_015102.3):c.3292G>A (p.(Ala1098Thr)), NPHP4(NM_015102.4):c.3292G>A (p.A1098T), NPHP4(NM_015102.5):c.3292G>A (p.A1098T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5873275C>T" "" "VUS" "" "0000508033" "0" "30" "1" "5934588" "5934588" "subst" "0.000176155" "01943" "NPHP4_000028" "g.5934588G>A" "" "" "" "NPHP4(NM_015102.4):c.3174C>T (p.T1058=), NPHP4(NM_015102.5):c.3174C>T (p.T1058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5874528G>A" "" "likely benign" "" "0000508034" "0" "10" "1" "5934594" "5934594" "subst" "0.000710489" "02330" "NPHP4_000029" "g.5934594G>A" "" "" "" "NPHP4(NM_015102.4):c.3168C>T (p.H1056=), NPHP4(NM_015102.5):c.3168C>T (p.H1056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5874534G>A" "" "benign" "" "0000508037" "0" "50" "1" "5934967" "5934967" "subst" "9.35294E-5" "01943" "NPHP4_000115" "g.5934967G>A" "" "" "" "NPHP4(NM_001291593.1):c.1472C>T (p.(Thr491Met)), NPHP4(NM_015102.4):c.3011C>T (p.T1004M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5874907G>A" "" "VUS" "" "0000508038" "0" "50" "1" "5934967" "5934967" "subst" "9.35294E-5" "01804" "NPHP4_000115" "g.5934967G>A" "" "" "" "NPHP4(NM_001291593.1):c.1472C>T (p.(Thr491Met)), NPHP4(NM_015102.4):c.3011C>T (p.T1004M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5874907G>A" "" "VUS" "" "0000508039" "0" "30" "1" "5935016" "5935016" "subst" "5.69995E-5" "01804" "NPHP4_000116" "g.5935016C>T" "" "" "" "NPHP4(NM_015102.3):c.2962G>A (p.(Ala988Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5874956C>T" "" "likely benign" "" "0000508041" "0" "50" "1" "5935051" "5935051" "subst" "6.53264E-5" "02330" "NPHP4_000118" "g.5935051G>A" "" "" "" "NPHP4(NM_015102.5):c.2927C>T (p.T976I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5874991G>A" "" "VUS" "" "0000508042" "0" "50" "1" "5935051" "5935051" "subst" "6.53264E-5" "02325" "NPHP4_000118" "g.5935051G>A" "" "" "" "NPHP4(NM_015102.5):c.2927C>T (p.T976I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5874991G>A" "" "VUS" "" "0000508045" "0" "30" "1" "5937189" "5937189" "subst" "0.000243483" "02330" "NPHP4_000119" "g.5937189G>A" "" "" "" "NPHP4(NM_015102.5):c.2781C>T (p.A927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5877129G>A" "" "likely benign" "" "0000508046" "0" "50" "1" "5937299" "5937299" "subst" "8.34258E-6" "01943" "NPHP4_000120" "g.5937299G>C" "" "" "" "NPHP4(NM_015102.4):c.2671C>G (p.L891V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5877239G>C" "" "VUS" "" "0000508047" "0" "90" "1" "5940174" "5940174" "subst" "0" "02330" "NPHP4_000121" "g.5940174G>A" "" "" "" "NPHP4(NM_015102.5):c.2611C>T (p.R871*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5880114G>A" "" "pathogenic" "" "0000508048" "0" "10" "1" "5940243" "5940243" "subst" "0.0155048" "01804" "NPHP4_000002" "g.5940243G>A" "" "" "" "NPHP4(NM_001291593.1):c.1003C>T (p.(Arg335Trp)), NPHP4(NM_015102.4):c.2542C>T (p.R848W), NPHP4(NM_015102.5):c.2542C>T (p.R848W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5880183G>A" "" "benign" "" "0000508050" "0" "50" "1" "5947405" "5947405" "subst" "2.03401E-5" "01943" "NPHP4_000123" "g.5947405T>C" "" "" "" "NPHP4(NM_015102.4):c.2426A>G (p.K809R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5887345T>C" "" "VUS" "" "0000508051" "0" "50" "1" "5947442" "5947442" "subst" "0" "02330" "NPHP4_000124" "g.5947442C>G" "" "" "" "NPHP4(NM_015102.5):c.2389G>C (p.V797L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5887382C>G" "" "VUS" "" "0000508052" "0" "10" "1" "5947470" "5947470" "subst" "0" "02330" "NPHP4_000125" "g.5947470C>T" "" "" "" "NPHP4(NM_015102.5):c.2361G>A (p.V787=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5887410C>T" "" "benign" "" "0000508053" "0" "50" "1" "5947504" "5947504" "subst" "1.22075E-5" "02330" "NPHP4_000126" "g.5947504G>A" "" "" "" "NPHP4(NM_015102.4):c.2327C>T (p.P776L), NPHP4(NM_015102.5):c.2327C>T (p.P776L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5887444G>A" "" "VUS" "" "0000508055" "0" "10" "1" "5950975" "5950975" "subst" "0.000726231" "01943" "NPHP4_000050" "g.5950975C>T" "" "" "" "NPHP4(NM_015102.3):c.2257G>A (p.(Asp753Asn)), NPHP4(NM_015102.4):c.2257G>A (p.D753N), NPHP4(NM_015102.5):c.2257G>A (p.D753N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5890915C>T" "" "benign" "" "0000508057" "0" "50" "1" "5951029" "5951029" "subst" "0.000408018" "02330" "NPHP4_000128" "g.5951029G>A" "" "" "" "NPHP4(NM_015102.4):c.2203C>T (p.R735W), NPHP4(NM_015102.5):c.2203C>T (p.R735W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5890969G>A" "" "VUS" "" "0000508059" "0" "30" "1" "5964789" "5964789" "subst" "0.00235129" "01943" "NPHP4_000130" "g.5964789G>A" "" "" "" "NPHP4(NM_015102.4):c.2031C>T (p.P677=), NPHP4(NM_015102.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5904729G>A" "" "likely benign" "" "0000508061" "0" "10" "1" "5964854" "5964854" "subst" "0.00138504" "02330" "NPHP4_000053" "g.5964854C>T" "" "" "" "NPHP4(NM_015102.4):c.1966G>A (p.D656N), NPHP4(NM_015102.5):c.1966G>A (p.D656N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5904794C>T" "" "benign" "" "0000508062" "0" "30" "1" "5965372" "5965372" "subst" "0.000121828" "02330" "NPHP4_000132" "g.5965372T>C" "" "" "" "NPHP4(NM_015102.5):c.1935A>G (p.L645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5905312T>C" "" "likely benign" "" "0000508064" "0" "10" "1" "5965823" "5965823" "subst" "0.000566227" "02330" "NPHP4_000133" "g.5965823G>A" "" "" "" "NPHP4(NM_015102.4):c.1632C>T (p.A544=), NPHP4(NM_015102.5):c.1632C>T (p.A544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5905763G>A" "" "benign" "" "0000508065" "0" "30" "1" "5965823" "5965823" "subst" "0.000566227" "01943" "NPHP4_000133" "g.5965823G>A" "" "" "" "NPHP4(NM_015102.4):c.1632C>T (p.A544=), NPHP4(NM_015102.5):c.1632C>T (p.A544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5905763G>A" "" "likely benign" "" "0000508066" "0" "30" "1" "5965824" "5965824" "subst" "0.00770998" "01804" "NPHP4_000062" "g.5965824G>C" "" "" "" "NPHP4(NM_001291593.1):c.92C>G (p.(Ala31Gly)), NPHP4(NM_015102.4):c.1631C>G (p.A544G), NPHP4(NM_015102.5):c.1631C>G (p.A544G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5905764G>C" "" "likely benign" "" "0000508067" "0" "50" "1" "5965833" "5965833" "subst" "0.000681569" "01943" "NPHP4_000134" "g.5965833G>A" "" "" "" "NPHP4(NM_015102.4):c.1622C>T (p.P541L), NPHP4(NM_015102.5):c.1622C>T (p.P541L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5905773G>A" "" "VUS" "" "0000508068" "0" "10" "1" "5967166" "5967166" "subst" "0.00393853" "02326" "NPHP4_000135" "g.5967166G>A" "" "" "" "NPHP4(NM_015102.5):c.1611+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5907106G>A" "" "benign" "" "0000508069" "0" "30" "1" "5967251" "5967251" "subst" "0" "02330" "NPHP4_000136" "g.5967251C>T" "" "" "" "NPHP4(NM_015102.5):c.1535G>A (p.R512Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5907191C>T" "" "likely benign" "" "0000508070" "0" "10" "1" "5969225" "5969225" "subst" "0.00536267" "02330" "NPHP4_000067" "g.5969225G>C" "" "" "" "NPHP4(NM_015102.5):c.1490C>G (p.P497R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5909165G>C" "" "benign" "" "0000508073" "0" "50" "1" "5993238" "5993238" "subst" "0" "02330" "NPHP4_000137" "g.5993238T>C" "" "" "" "NPHP4(NM_015102.4):c.1271A>G (p.K424R), NPHP4(NM_015102.5):c.1271A>G (p.K424R, p.(Lys424Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5933178T>C" "" "VUS" "" "0000508075" "0" "50" "1" "6008224" "6008224" "subst" "8.15228E-6" "02330" "NPHP4_000139" "g.6008224T>C" "" "" "" "NPHP4(NM_015102.5):c.898A>G (p.R300G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5948164T>C" "" "VUS" "" "0000508078" "0" "50" "1" "6038338" "6038338" "subst" "0.000896712" "02330" "NPHP4_000140" "g.6038338A>G" "" "" "" "NPHP4(NM_015102.4):c.271T>C (p.F91L), NPHP4(NM_015102.5):c.271T>C (p.F91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5978278A>G" "" "VUS" "" "0000508079" "0" "50" "1" "6038338" "6038338" "subst" "0.000896712" "01943" "NPHP4_000140" "g.6038338A>G" "" "" "" "NPHP4(NM_015102.4):c.271T>C (p.F91L), NPHP4(NM_015102.5):c.271T>C (p.F91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5978278A>G" "" "VUS" "" "0000508080" "0" "30" "1" "6038338" "6038338" "subst" "0.000896712" "02326" "NPHP4_000140" "g.6038338A>G" "" "" "" "NPHP4(NM_015102.4):c.271T>C (p.F91L), NPHP4(NM_015102.5):c.271T>C (p.F91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5978278A>G" "" "likely benign" "" "0000508081" "0" "30" "1" "6038478" "6038478" "del" "0" "01804" "NPHP4_000097" "g.6038478del" "" "" "" "NPHP4(NM_015102.3):c.136-4del (p.?), NPHP4(NM_015102.5):c.136-4delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5978418del" "" "likely benign" "" "0000508082" "0" "30" "1" "6046208" "6046208" "subst" "0" "02330" "NPHP4_000141" "g.6046208T>C" "" "" "" "NPHP4(NM_015102.5):c.135+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5986148T>C" "" "likely benign" "" "0000508083" "0" "30" "1" "6046264" "6046264" "subst" "0.0294331" "01804" "NPHP4_000098" "g.6046264G>A" "" "" "" "NPHP4(NM_015102.3):c.86C>T (p.(Thr29Met)), NPHP4(NM_015102.4):c.86C>T (p.T29M), NPHP4(NM_015102.5):c.86C>T (p.T29M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5986204G>A" "" "likely benign" "" "0000508084" "0" "50" "1" "6046325" "6046325" "subst" "0" "02330" "NPHP4_000142" "g.6046325T>G" "" "" "" "NPHP4(NM_015102.5):c.25A>C (p.T9P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5986265T>G" "" "VUS" "" "0000508087" "0" "50" "1" "6155669" "6155670" "del" "0" "02327" "KCNAB2_000004" "g.6155669_6155670del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6095609_6095610del" "" "VUS" "" "0000605864" "0" "50" "1" "5924418" "5924418" "subst" "1.26528E-5" "01943" "NPHP4_000143" "g.5924418G>A" "" "" "" "NPHP4(NM_015102.4):c.3976C>T (p.R1326C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5864358G>A" "" "VUS" "" "0000605865" "0" "30" "1" "5925304" "5925304" "subst" "0.00131813" "01804" "NPHP4_000111" "g.5925304G>A" "" "" "" "NPHP4(NM_015102.3):c.3674C>T (p.(Thr1225Met)), NPHP4(NM_015102.4):c.3674C>T (p.T1225M), NPHP4(NM_015102.5):c.3674C>T (p.T1225M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5865244G>A" "" "likely benign" "" "0000605866" "0" "50" "1" "5927920" "5927920" "subst" "9.75126E-5" "02327" "NPHP4_000022" "g.5927920C>T" "" "" "" "NPHP4(NM_015102.4):c.3352G>A (p.V1118M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5867860C>T" "" "VUS" "" "0000605867" "0" "50" "1" "5933335" "5933335" "subst" "0.000694518" "02327" "NPHP4_000025" "g.5933335C>T" "" "" "" "NPHP4(NM_015102.3):c.3292G>A (p.(Ala1098Thr)), NPHP4(NM_015102.4):c.3292G>A (p.A1098T), NPHP4(NM_015102.5):c.3292G>A (p.A1098T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5873275C>T" "" "VUS" "" "0000605868" "0" "30" "1" "5933375" "5933375" "subst" "1.21852E-5" "02330" "NPHP4_000144" "g.5933375G>A" "" "" "" "NPHP4(NM_015102.5):c.3252C>T (p.N1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5873315G>A" "" "likely benign" "" "0000605869" "0" "30" "1" "5934587" "5934587" "subst" "0.00039815" "01943" "NPHP4_000027" "g.5934587C>T" "" "" "" "NPHP4(NM_015102.4):c.3175G>A (p.A1059T), NPHP4(NM_015102.5):c.3175G>A (p.A1059T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5874527C>T" "" "likely benign" "" "0000605870" "0" "50" "1" "5935013" "5935013" "subst" "0.000447562" "02325" "NPHP4_000032" "g.5935013C>T" "" "" "" "NPHP4(NM_015102.4):c.2965G>A (p.E989K), NPHP4(NM_015102.5):c.2965G>A (p.(Glu989Lys), p.E989K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5874953C>T" "" "VUS" "" "0000605871" "0" "30" "1" "5937158" "5937158" "subst" "0.000924961" "01804" "NPHP4_000145" "g.5937158C>T" "" "" "" "NPHP4(NM_015102.3):c.2812G>A (p.(Val938Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5877098C>T" "" "likely benign" "" "0000605872" "0" "10" "1" "5947546" "5947546" "subst" "0.000238868" "02330" "NPHP4_000146" "g.5947546G>A" "" "" "" "NPHP4(NM_015102.5):c.2305-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5887486G>A" "" "benign" "" "0000605873" "0" "30" "1" "5950975" "5950975" "subst" "0.000726231" "01804" "NPHP4_000050" "g.5950975C>T" "" "" "" "NPHP4(NM_015102.3):c.2257G>A (p.(Asp753Asn)), NPHP4(NM_015102.4):c.2257G>A (p.D753N), NPHP4(NM_015102.5):c.2257G>A (p.D753N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5890915C>T" "" "likely benign" "" "0000605874" "0" "30" "1" "5964705" "5964705" "subst" "0.000236785" "01943" "NPHP4_000147" "g.5964705A>G" "" "" "" "NPHP4(NM_015102.4):c.2115T>C (p.P705=), NPHP4(NM_015102.5):c.2115T>C (p.P705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5904645A>G" "" "likely benign" "" "0000605875" "0" "50" "1" "5993238" "5993238" "subst" "0" "01943" "NPHP4_000137" "g.5993238T>C" "" "" "" "NPHP4(NM_015102.4):c.1271A>G (p.K424R), NPHP4(NM_015102.5):c.1271A>G (p.K424R, p.(Lys424Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5933178T>C" "" "VUS" "" "0000605876" "0" "50" "1" "5993313" "5993313" "subst" "0.000748948" "01943" "NPHP4_000075" "g.5993313T>C" "" "" "" "NPHP4(NM_015102.4):c.1196A>G (p.E399G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5933253T>C" "" "VUS" "" "0000605877" "0" "30" "1" "6008318" "6008318" "subst" "0" "02330" "NPHP4_000149" "g.6008318G>A" "" "" "" "NPHP4(NM_015102.5):c.811-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5948258G>A" "" "likely benign" "" "0000620678" "0" "50" "1" "5987843" "5987851" "dup" "0" "02325" "NPHP4_000148" "g.5987843_5987851dup" "" "" "" "NPHP4(NM_015102.5):c.1306_1314dupAAGCAGGTG (p.K436_V438dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5927783_5927791dup" "" "VUS" "" "0000654077" "0" "30" "1" "5925348" "5925348" "subst" "0.00038119" "02330" "NPHP4_000014" "g.5925348G>A" "" "" "" "NPHP4(NM_015102.4):c.3645-15C>T, NPHP4(NM_015102.5):c.3645-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5865288G>A" "" "likely benign" "" "0000654078" "0" "50" "1" "5927887" "5927887" "subst" "5.6912E-5" "01943" "NPHP4_000007" "g.5927887C>T" "" "" "" "NPHP4(NM_015102.4):c.3385G>A (p.V1129M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5867827C>T" "" "VUS" "" "0000654079" "0" "30" "1" "5927943" "5927943" "subst" "0.00368748" "02326" "NPHP4_000024" "g.5927943G>A" "" "" "" "NPHP4(NM_015102.3):c.3329C>T (p.(Ala1110Val)), NPHP4(NM_015102.4):c.3329C>T (p.A1110V), NPHP4(NM_015102.5):c.3329C>T (p.A1110V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5867883G>A" "" "likely benign" "" "0000654080" "0" "30" "1" "5940293" "5940293" "subst" "7.34934E-5" "01804" "NPHP4_000150" "g.5940293G>A" "" "" "" "NPHP4(NM_015102.3):c.2492C>T (p.(Pro831Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5880233G>A" "" "likely benign" "" "0000654081" "0" "10" "1" "5950975" "5950975" "subst" "0.000726231" "02326" "NPHP4_000050" "g.5950975C>T" "" "" "" "NPHP4(NM_015102.3):c.2257G>A (p.(Asp753Asn)), NPHP4(NM_015102.4):c.2257G>A (p.D753N), NPHP4(NM_015102.5):c.2257G>A (p.D753N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5890915C>T" "" "benign" "" "0000654082" "0" "90" "1" "5964865" "5964865" "subst" "0" "01943" "NPHP4_000151" "g.5964865C>T" "" "" "" "NPHP4(NM_015102.4):c.1956-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5904805C>T" "" "pathogenic" "" "0000654084" "0" "30" "1" "6007259" "6007259" "subst" "0.00167742" "02326" "NPHP4_000081" "g.6007259G>A" "" "" "" "NPHP4(NM_015102.3):c.1024C>T (p.(Arg342Cys)), NPHP4(NM_015102.4):c.1024C>T (p.R342C), NPHP4(NM_015102.5):c.1024C>T (p.R342C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5947199G>A" "" "likely benign" "" "0000667221" "3" "90" "1" "5925194" "5925194" "subst" "0" "03601" "NPHP4_000152" "g.5925194T>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "" "0" "" "" "g.5865134T>A" "" "pathogenic (recessive)" "ACMG" "0000667234" "3" "70" "1" "6021854" "6021854" "subst" "0" "03601" "NPHP4_000153" "g.6021854C>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs540402276" "0" "" "" "g.5961794C>A" "" "likely pathogenic (recessive)" "ACMG" "0000675897" "0" "30" "1" "5923976" "5923976" "subst" "0.000377892" "01943" "NPHP4_000009" "g.5923976G>A" "" "" "" "NPHP4(NM_015102.4):c.4114C>T (p.L1372=), NPHP4(NM_015102.5):c.4114C>T (p.L1372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675898" "0" "50" "1" "5924411" "5924411" "subst" "0.000155885" "02330" "NPHP4_000154" "g.5924411G>A" "" "" "" "NPHP4(NM_015102.5):c.3983C>T (p.P1328L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675899" "0" "30" "1" "5925201" "5925201" "subst" "0.00095903" "01943" "NPHP4_000155" "g.5925201C>T" "" "" "" "NPHP4(NM_015102.4):c.3777G>A (p.R1259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675900" "0" "50" "1" "5934703" "5934703" "subst" "0" "02330" "NPHP4_000156" "g.5934703C>A" "" "" "" "NPHP4(NM_015102.5):c.3059G>T (p.S1020I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675901" "0" "30" "1" "5935076" "5935076" "subst" "0.000242278" "01943" "NPHP4_000001" "g.5935076C>T" "" "" "" "NPHP4(NM_015102.4):c.2902G>A (p.A968T), NPHP4(NM_015102.5):c.2902G>A (p.A968T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675902" "0" "50" "1" "5935096" "5935096" "subst" "0.00244551" "01943" "NPHP4_000157" "g.5935096C>T" "" "" "" "NPHP4(NM_015102.4):c.2882G>A (p.R961H), NPHP4(NM_015102.5):c.2882G>A (p.R961H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675903" "0" "50" "1" "5935096" "5935096" "subst" "0.00244551" "02325" "NPHP4_000157" "g.5935096C>T" "" "" "" "NPHP4(NM_015102.4):c.2882G>A (p.R961H), NPHP4(NM_015102.5):c.2882G>A (p.R961H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675904" "0" "30" "1" "5947482" "5947482" "subst" "8.542E-5" "01943" "NPHP4_000158" "g.5947482C>T" "" "" "" "NPHP4(NM_015102.4):c.2349G>A (p.E783=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675905" "0" "30" "1" "5987806" "5987806" "subst" "0.000113724" "01943" "NPHP4_000159" "g.5987806C>T" "" "" "" "NPHP4(NM_015102.4):c.1344G>A (p.S448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675906" "0" "30" "1" "5993252" "5993252" "subst" "4.06984E-6" "01943" "NPHP4_000160" "g.5993252G>A" "" "" "" "NPHP4(NM_015102.4):c.1257C>T (p.H419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000685301" "0" "90" "1" "5932827" "5940098" "del" "0" "00004" "NPHP4_000104" "g.5932827_5940098del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000688214" "0" "50" "1" "5924090" "5924090" "subst" "0" "01943" "NPHP4_000161" "g.5924090A>C" "" "" "" "NPHP4(NM_015102.4):c.4000T>G (p.F1334V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688215" "0" "30" "1" "5933357" "5933357" "subst" "3.24936E-5" "01943" "NPHP4_000162" "g.5933357G>A" "" "" "" "NPHP4(NM_015102.4):c.3270C>T (p.A1090=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688216" "0" "30" "1" "5934657" "5934657" "subst" "0.000133105" "01943" "NPHP4_000030" "g.5934657C>T" "" "" "" "NPHP4(NM_015102.4):c.3105G>A (p.P1035=), NPHP4(NM_015102.5):c.3105G>A (p.P1035=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688217" "0" "50" "1" "5937230" "5937230" "subst" "4.27917E-5" "01943" "NPHP4_000163" "g.5937230G>A" "" "" "" "NPHP4(NM_015102.4):c.2740C>T (p.R914C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688218" "0" "50" "1" "5951029" "5951029" "subst" "0.000408018" "01943" "NPHP4_000128" "g.5951029G>A" "" "" "" "NPHP4(NM_015102.4):c.2203C>T (p.R735W), NPHP4(NM_015102.5):c.2203C>T (p.R735W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688219" "0" "30" "1" "5964705" "5964705" "subst" "0.000236785" "02326" "NPHP4_000147" "g.5964705A>G" "" "" "" "NPHP4(NM_015102.4):c.2115T>C (p.P705=), NPHP4(NM_015102.5):c.2115T>C (p.P705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688220" "0" "30" "1" "5965384" "5965384" "subst" "0.000166499" "02326" "NPHP4_000055" "g.5965384G>A" "" "" "" "NPHP4(NM_015102.4):c.1923C>T (p.N641=), NPHP4(NM_015102.5):c.1923C>T (p.N641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688221" "0" "30" "1" "5993402" "5993402" "subst" "0.000485523" "02326" "NPHP4_000077" "g.5993402C>A" "" "" "" "NPHP4(NM_015102.5):c.1120-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000714079" "2" "70" "1" "5964791" "5964791" "subst" "0.000536023" "00000" "NPHP4_000165" "g.5964791G>A" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.5904731G>A" "" "likely pathogenic (recessive)" "" "0000714106" "1" "70" "1" "5935048" "5935048" "subst" "0.000404138" "00000" "NPHP4_000164" "g.5935048G>A" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.5874988G>A" "" "likely pathogenic (recessive)" "" "0000717566" "0" "50" "1" "5924570" "5924570" "subst" "0" "02325" "NPHP4_000166" "g.5924570G>A" "" "" "" "NPHP4(NM_015102.5):c.3824C>T (p.P1275L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717567" "0" "50" "1" "5925220" "5925220" "subst" "0.000378101" "01943" "NPHP4_000167" "g.5925220C>T" "" "" "" "NPHP4(NM_015102.4):c.3758G>A (p.R1253Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717568" "0" "50" "1" "5927827" "5927827" "subst" "6.14029E-5" "02325" "NPHP4_000168" "g.5927827G>A" "" "" "" "NPHP4(NM_015102.5):c.3445C>T (p.R1149C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717569" "0" "50" "1" "5927923" "5927923" "subst" "1.21933E-5" "01943" "NPHP4_000169" "g.5927923C>T" "" "" "" "NPHP4(NM_015102.4):c.3349G>A (p.A1117T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717570" "0" "30" "1" "5935038" "5935038" "subst" "0.000420189" "01943" "NPHP4_000170" "g.5935038C>T" "" "" "" "NPHP4(NM_015102.4):c.2940G>A (p.T980=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717571" "0" "30" "1" "5935086" "5935086" "subst" "4.11848E-5" "01943" "NPHP4_000171" "g.5935086G>A" "" "" "" "NPHP4(NM_015102.4):c.2892C>T (p.A964=), NPHP4(NM_015102.5):c.2892C>T (p.A964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717572" "0" "30" "1" "5935096" "5935096" "subst" "0.00244551" "02326" "NPHP4_000157" "g.5935096C>T" "" "" "" "NPHP4(NM_015102.4):c.2882G>A (p.R961H), NPHP4(NM_015102.5):c.2882G>A (p.R961H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717573" "0" "30" "1" "5965496" "5965496" "subst" "2.03224E-5" "02327" "NPHP4_000172" "g.5965496G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717574" "0" "30" "1" "5965721" "5965721" "subst" "4.06382E-6" "01943" "NPHP4_000173" "g.5965721G>A" "" "" "" "NPHP4(NM_015102.4):c.1734C>T (p.A578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717575" "0" "50" "1" "6008178" "6008178" "subst" "0.00115006" "01943" "NPHP4_000083" "g.6008178G>A" "" "" "" "NPHP4(NM_015102.4):c.944C>T (p.T315M), NPHP4(NM_015102.5):c.944C>T (p.T315M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717576" "0" "30" "1" "6021949" "6021949" "subst" "0.000195035" "02326" "NPHP4_000088" "g.6021949G>A" "" "" "" "NPHP4(NM_015102.4):c.578C>T (p.P193L), NPHP4(NM_015102.5):c.578C>T (p.P193L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717577" "0" "50" "1" "6038466" "6038466" "subst" "2.63906E-5" "01943" "NPHP4_000174" "g.6038466A>G" "" "" "" "NPHP4(NM_015102.4):c.143T>C (p.L48P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717578" "0" "50" "1" "6046228" "6046228" "subst" "0.000398348" "01943" "NPHP4_000175" "g.6046228G>A" "" "" "" "NPHP4(NM_015102.4):c.122C>T (p.P41L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000736839" "0" "50" "1" "5987843" "5987851" "dup" "0" "00000" "NPHP4_000148" "g.5987843_5987851dup" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs747743472" "0" "" "" "g.5927783_5927791dup" "" "VUS" "" "0000760088" "0" "50" "1" "5927908" "5927908" "subst" "9.34336E-5" "00000" "NPHP4_000176" "g.5927908T>G" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.5867848T>G" "" "VUS" "" "0000786348" "1" "90" "1" "5924535" "5924535" "subst" "0.000164767" "00000" "NPHP4_000006" "g.5924535G>C" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.5864475G>C" "" "pathogenic" "" "0000786390" "2" "90" "1" "5927147" "5927147" "del" "0" "00000" "NPHP4_000004" "g.5927147del" "" "{PMID:Zhao 2015:25472526}" "" "3506delC" "" "Germline" "" "" "0" "" "" "g.5867087del" "" "pathogenic" "" "0000788351" "0" "50" "1" "5927122" "5927122" "subst" "4.08861E-6" "00000" "NPHP4_000177" "g.5927122C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G3526A" "" "Germline" "" "" "0" "" "" "g.5867062C>T" "" "VUS" "" "0000791942" "0" "90" "1" "5927908" "5927908" "subst" "9.34336E-5" "00000" "NPHP4_000176" "g.5927908T>G" "" "{PMID:Otto 2011:21068128}" "" "c.3364A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791943" "0" "90" "1" "6029294" "6029294" "del" "0" "00000" "NPHP4_000181" "g.6029294delT" "" "{PMID:Otto 2011:21068128}" "" "c.305delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791944" "0" "90" "1" "5934694" "5934694" "subst" "0" "00000" "NPHP4_000179" "g.5934694C>T" "" "{PMID:Otto 2011:21068128}" "" "c.3068G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791945" "0" "90" "1" "5927869" "5927869" "del" "0" "00000" "NPHP4_000178" "g.5927869delG" "" "{PMID:Otto 2011:21068128}" "" "c.3403delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792000" "0" "90" "1" "6038338" "6038338" "subst" "0.000896712" "00000" "NPHP4_000140" "g.6038338A>G" "" "{PMID:Otto 2011:21068128}" "" "c.271T/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792001" "0" "90" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Otto 2011:21068128}" "" "c.944G/A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792201" "3" "50" "1" "5937351" "5937352" "ins" "0" "00000" "NPHP4_000180" "g.5937351_5937352insT" "" "{PMID:Chaki 2011:21422230}" "" "c.2618_2619insA" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794741" "3" "70" "1" "6021854" "6021854" "subst" "0" "00000" "NPHP4_000153" "g.6021854C>A" "" "{PMID:Patel 2018:30054919}" "" "NM_015102.3:c.673G>T;p.(Gly225Cys)" "" "Germline" "yes" "" "0" "" "" "g.5961794C>A" "" "likely pathogenic (recessive)" "ACMG" "0000795042" "0" "90" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:M\'hamdi 2014:23432027}" "" "p.R959Q" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796918" "0" "90" "1" "6046239" "6046239" "subst" "0" "00000" "NPHP4_000005" "g.6046239C>T" "" "{PMID:Wang-2014:24154662}" "" "c.111G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796919" "0" "90" "1" "5927142" "5927142" "del" "0" "00000" "NPHP4_000004" "g.5927142del" "" "{PMID:Wang-2014:24154662}" "" "c.3506delC" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000799448" "0" "50" "1" "5923345" "5923345" "subst" "4.08657E-5" "01943" "NPHP4_000182" "g.5923345C>T" "" "" "" "NPHP4(NM_015102.4):c.4261G>A (p.V1421M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799449" "0" "30" "1" "5923369" "5923369" "subst" "0.000778146" "02330" "NPHP4_000183" "g.5923369C>T" "" "" "" "NPHP4(NM_015102.5):c.4237G>A (p.D1413N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799450" "0" "30" "1" "5923976" "5923976" "subst" "0.000377892" "02326" "NPHP4_000009" "g.5923976G>A" "" "" "" "NPHP4(NM_015102.4):c.4114C>T (p.L1372=), NPHP4(NM_015102.5):c.4114C>T (p.L1372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799451" "0" "50" "1" "5924010" "5924010" "subst" "0" "01943" "NPHP4_000184" "g.5924010C>A" "" "" "" "NPHP4(NM_015102.4):c.4080G>T (p.R1360S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799452" "0" "50" "1" "5925254" "5925254" "subst" "2.46627E-5" "01943" "NPHP4_000185" "g.5925254C>T" "" "" "" "NPHP4(NM_015102.4):c.3724G>A (p.A1242T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799453" "0" "30" "1" "5926503" "5926503" "subst" "0.00182024" "02326" "NPHP4_000015" "g.5926503G>A" "" "" "" "NPHP4(NM_015102.4):c.3574C>T (p.R1192W), NPHP4(NM_015102.5):c.3574C>T (p.R1192W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799454" "0" "30" "1" "5927936" "5927936" "subst" "0" "01943" "NPHP4_000186" "g.5927936A>G" "" "" "" "NPHP4(NM_015102.4):c.3336T>C (p.G1112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799455" "0" "30" "1" "5933335" "5933335" "subst" "0.000694518" "02326" "NPHP4_000025" "g.5933335C>T" "" "" "" "NPHP4(NM_015102.3):c.3292G>A (p.(Ala1098Thr)), NPHP4(NM_015102.4):c.3292G>A (p.A1098T), NPHP4(NM_015102.5):c.3292G>A (p.A1098T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799456" "0" "30" "1" "5933407" "5933407" "subst" "0.000276328" "02330" "NPHP4_000187" "g.5933407G>A" "" "" "" "NPHP4(NM_015102.5):c.3232-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799457" "0" "50" "1" "5935013" "5935013" "subst" "0.000447562" "01943" "NPHP4_000032" "g.5935013C>T" "" "" "" "NPHP4(NM_015102.4):c.2965G>A (p.E989K), NPHP4(NM_015102.5):c.2965G>A (p.(Glu989Lys), p.E989K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799458" "0" "30" "1" "5935026" "5935026" "subst" "8.55251E-5" "01943" "NPHP4_000033" "g.5935026C>T" "" "" "" "NPHP4(NM_015102.4):c.2952G>A (p.T984=), NPHP4(NM_015102.5):c.2952G>A (p.T984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799459" "0" "50" "1" "5935027" "5935027" "subst" "4.48069E-5" "01943" "NPHP4_000188" "g.5935027G>A" "" "" "" "NPHP4(NM_015102.4):c.2951C>T (p.T984M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799460" "0" "50" "1" "5947504" "5947504" "subst" "1.22075E-5" "01943" "NPHP4_000126" "g.5947504G>A" "" "" "" "NPHP4(NM_015102.4):c.2327C>T (p.P776L), NPHP4(NM_015102.5):c.2327C>T (p.P776L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799461" "0" "30" "1" "5950995" "5950995" "subst" "8.33257E-6" "01943" "NPHP4_000189" "g.5950995G>C" "" "" "" "NPHP4(NM_015102.4):c.2237C>G (p.T746S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799462" "0" "30" "1" "5965495" "5965495" "subst" "3.25219E-5" "01943" "NPHP4_000190" "g.5965495G>A" "" "" "" "NPHP4(NM_015102.4):c.1812C>T (p.S604=), NPHP4(NM_015102.5):c.1812C>T (p.S604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799463" "0" "30" "1" "5965548" "5965548" "subst" "0.000298545" "02326" "NPHP4_000059" "g.5965548G>A" "" "" "" "NPHP4(NM_015102.4):c.1764-5C>T, NPHP4(NM_015102.5):c.1764-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799464" "0" "50" "1" "5987710" "5987710" "subst" "7.7749E-5" "01943" "NPHP4_000191" "g.5987710C>T" "" "" "" "NPHP4(NM_001291593.1):c.74G>A (p.R25Q), NPHP4(NM_001291593.2):c.74G>A (p.R25Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799465" "0" "90" "1" "6027358" "6027358" "subst" "0" "01943" "NPHP4_000192" "g.6027358C>T" "" "" "" "NPHP4(NM_015102.4):c.517+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799466" "0" "30" "1" "6046343" "6046343" "subst" "0.000394655" "02326" "NPHP4_000099" "g.6046343C>A" "" "" "" "NPHP4(NM_015102.4):c.7G>T (p.D3Y), NPHP4(NM_015102.5):c.7G>T (p.D3Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799468" "0" "50" "1" "6155501" "6155501" "subst" "0" "02327" "KCNAB2_000006" "g.6155501T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000813986" "0" "50" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Redin-2012:22773737}" "" "c.[3683T>G];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814026" "3" "50" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Redin-2012:22773737}" "" "NPHP4:p.[R674H];[R674H]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814027" "3" "90" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Redin-2012:22773737}" "" "c.[1171_1181dupGCATTTATACC]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000814074" "0" "70" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:M\'hamdi-2014:23432027}" "" "NPHP4: p.R959Q" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000815055" "10" "90" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Gonzalez del Pozo 2013:24689075}" "" "c.992+71G>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000822146" "0" "90" "1" "0" "0" "del" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Khateb-2016:27208209}" "" "c.2611+75_3315+484del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000822971" "3" "70" "1" "6008167" "6008167" "subst" "0" "00000" "NPHP4_000194" "g.6008167T>C" "" "{PMID:Méjécase 2020:32783370}" "" "NPHP4 c.95SA>G p.(Ser319Gly)" "homozygous" "Unknown" "?" "" "0" "" "" "g.5948107T>C" "" "likely pathogenic" "" "0000823441" "0" "50" "1" "5926503" "5926503" "subst" "0.00182024" "00000" "NPHP4_000015" "g.5926503G>A" "" "{PMID:Sallum 2020:32865313}" "" "NPHP4 c.3574C>T; p.Arg1192Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.5866443G>A" "" "VUS" "ACMG" "0000823463" "0" "50" "1" "5935013" "5935013" "subst" "0.000447562" "00000" "NPHP4_000032" "g.5935013C>T" "" "{PMID:Sallum 2020:32865313}" "" "NPHP4 c.2965G>A; p.GIu989Lys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.5874953C>T" "" "VUS" "ACMG" "0000823543" "0" "50" "1" "5934616" "5934616" "subst" "0" "00000" "NPHP4_000193" "g.5934616G>A" "" "{PMID:Sallum 2020:32865313}" "" "NPHP4 c.3146C>T; p.Pro1049Leu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.5874556G>A" "" "VUS" "ACMG" "0000823558" "0" "50" "1" "5951029" "5951029" "subst" "0.000408018" "00000" "NPHP4_000128" "g.5951029G>A" "" "{PMID:Sallum 2020:32865313}" "" "NPHP4 c.2203C>T; p.Arg735Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.5890969G>A" "" "VUS" "ACMG" "0000823561" "0" "50" "1" "5935027" "5935027" "subst" "4.48069E-5" "00000" "NPHP4_000188" "g.5935027G>A" "" "{PMID:Sallum 2020:32865313}" "" "NPHP4 c.2951C>T; p.Thr984Met" "heterozygous" "Unknown" "?" "" "0" "" "" "g.5874967G>A" "" "VUS" "ACMG" "0000828547" "3" "70" "1" "5965533" "5965533" "subst" "1.2349E-5" "00000" "NPHP4_000195" "g.5965533G>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "NPHP4, c.1774C>T, p.Gln592*, homozygous" "" "Unknown" "?" "" "0" "" "" "g.5905473G>A" "" "likely pathogenic" "ACMG" "0000831193" "0" "70" "1" "5965427" "5965427" "subst" "0.000203047" "00000" "NPHP4_000056" "g.5965427G>A" "" "{PMID:Helou 2008:17617513}" "" "C1880T, T627M" "single heterozygous variant in a recessive disease" "Unknown" "?" "" "0" "" "" "g.5905367G>A" "" "likely pathogenic" "" "0000834102" "11" "70" "1" "5934641" "5934641" "del" "0" "00006" "NPHP4_000197" "g.5934641del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.3122(exon22)delT" "" "Germline" "" "" "0" "" "" "g.5874581del" "" "likely pathogenic" "ACMG" "0000834103" "21" "70" "1" "5926450" "5926451" "delins" "0" "00006" "NPHP4_000196" "g.5926450_5926451delinsTT" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.3626(exon26)_c.3627(exon26)delTCinsAA" "" "Germline" "" "" "0" "" "" "g.5866390_5866391delinsTT" "" "likely pathogenic" "ACMG" "0000834161" "21" "70" "1" "6038433" "6038440" "del" "0" "00006" "NPHP4_000199" "g.6038433_6038440del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.169(exon3)_c.176(exon3)delCATCTGCG" "" "Germline" "" "" "0" "" "" "g.5978373_5978380del" "" "likely pathogenic" "ACMG" "0000834162" "11" "50" "1" "5950951" "5950951" "subst" "0" "00006" "NPHP4_000198" "g.5950951C>T" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.2281(exon17)G>A" "" "Germline" "" "rs878915335" "0" "" "" "g.5890891C>T" "" "VUS" "ACMG" "0000845575" "3" "70" "1" "6038434" "6038434" "subst" "8.48227E-6" "00000" "NPHP4_000204" "g.6038434G>A" "" "{PMID:Otto 2008:18076122}" "" "NPHP4 c.175C>T, p.R59X" "homozygous" "Unknown" "?" "" "0" "" "" "g.5978374G>A" "" "likely pathogenic" "" "0000845576" "3" "70" "1" "5947463" "5947463" "subst" "0" "00000" "NPHP4_000202" "g.5947463C>A" "" "{PMID:Otto 2008:18076122}" "" "NPHP4 c.2368G>T, p.E790X" "homozygous" "Germline" "yes" "" "0" "" "" "g.5887403C>A" "" "likely pathogenic" "" "0000845577" "3" "70" "1" "5934968" "5934968" "dup" "0" "00000" "NPHP4_000201" "g.5934968dup" "" "{PMID:Otto 2008:18076122}" "" "NPHP4 c.3010dupA, p.T1004fsX1102" "homozygous" "Unknown" "?" "" "0" "" "" "g.5874908dup" "" "likely pathogenic" "" "0000845578" "3" "70" "1" "5933355" "5933355" "dup" "2.84322E-5" "00000" "NPHP4_000200" "g.5933355dup" "" "{PMID:Otto 2008:18076122}" "" "NPHP4 c.3272dupT, p.V1091fsX1102" "error in annotation, first aminoacid rule shifts it to codon 1092; homozygous" "Unknown" "?" "" "0" "" "" "g.5873295dup" "" "likely pathogenic" "" "0000845579" "3" "70" "1" "5933355" "5933355" "dup" "2.84322E-5" "00000" "NPHP4_000200" "g.5933355dup" "" "{PMID:Otto 2008:18076122}" "" "NPHP4 c.3272dupT, p.V1091fsX1102" "error in annotation, first aminoacid rule shifts it to codon 1092; homozygous" "Unknown" "?" "" "0" "" "" "g.5873295dup" "" "likely pathogenic" "" "0000845938" "3" "90" "1" "5950972" "5950972" "subst" "1.66479E-5" "00000" "NPHP4_000203" "g.5950972C>T" "" "{PMID:Kang 2016:27491411}" "" "NPHP4 c.3757C>G c.2260G>A (Hom), p.Leu1253Val p.Gly754Arg" "homozygous" "Unknown" "?" "" "0" "" "" "g.5890912C>T" "" "pathogenic" "" "0000848786" "0" "30" "1" "5925291" "5925291" "subst" "8.81725E-6" "01943" "NPHP4_000206" "g.5925291G>A" "" "" "" "NPHP4(NM_015102.4):c.3687C>T (p.Y1229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848787" "0" "50" "1" "5934581" "5934581" "subst" "0.000148371" "01943" "NPHP4_000207" "g.5934581C>T" "" "" "" "NPHP4(NM_015102.4):c.3181G>A (p.V1061I), NPHP4(NM_015102.5):c.3181G>A (p.(Val1061Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848788" "0" "30" "1" "5934587" "5934587" "subst" "0.00039815" "02326" "NPHP4_000027" "g.5934587C>T" "" "" "" "NPHP4(NM_015102.4):c.3175G>A (p.A1059T), NPHP4(NM_015102.5):c.3175G>A (p.A1059T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848789" "0" "30" "1" "5935158" "5935158" "subst" "0.000290825" "02326" "NPHP4_000208" "g.5935158C>T" "" "" "" "NPHP4(NM_015102.5):c.2820G>A (p.A940=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848790" "0" "10" "1" "5937162" "5937162" "subst" "0.00264811" "02326" "NPHP4_000209" "g.5937162C>T" "" "" "" "NPHP4(NM_015102.5):c.2808G>A (p.T936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848791" "0" "50" "1" "5940228" "5940228" "subst" "0.00106837" "01943" "NPHP4_000212" "g.5940228C>A" "" "" "" "NPHP4(NM_015102.4):c.2557G>T (p.D853Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848792" "0" "30" "1" "5940292" "5940292" "subst" "0" "02330" "NPHP4_000213" "g.5940292C>G" "" "" "" "NPHP4(NM_015102.5):c.2493G>C (p.P831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848793" "0" "10" "1" "5950939" "5950939" "subst" "0.000902968" "02326" "NPHP4_000214" "g.5950939C>T" "" "" "" "NPHP4(NM_015102.5):c.2293G>A (p.V765I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848794" "0" "50" "1" "5964799" "5964799" "subst" "2.43649E-5" "01943" "NPHP4_000215" "g.5964799C>T" "" "" "" "NPHP4(NM_015102.4):c.2021G>A (p.R674H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848795" "0" "10" "1" "5965750" "5965750" "subst" "0.00103321" "02326" "NPHP4_000061" "g.5965750G>C" "" "" "" "NPHP4(NM_015102.5):c.1705C>G (p.Q569E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848796" "0" "30" "1" "5965833" "5965833" "subst" "0.000681569" "02326" "NPHP4_000134" "g.5965833G>A" "" "" "" "NPHP4(NM_015102.4):c.1622C>T (p.P541L), NPHP4(NM_015102.5):c.1622C>T (p.P541L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848797" "0" "30" "1" "5969280" "5969280" "subst" "0.00145786" "02326" "NPHP4_000070" "g.5969280G>A" "" "" "" "NPHP4(NM_015102.5):c.1442-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848798" "0" "50" "1" "6007169" "6007169" "subst" "0.000259898" "01943" "NPHP4_000216" "g.6007169C>T" "" "" "" "NPHP4(NM_001291593.1):c.-253G>A (p.(=)), NPHP4(NM_015102.4):c.1114G>A (p.G372S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848799" "0" "50" "1" "6008244" "6008244" "subst" "1.23351E-5" "02326" "NPHP4_000217" "g.6008244T>C" "" "" "" "NPHP4(NM_015102.5):c.878A>G (p.N293S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848800" "0" "10" "1" "6027365" "6027365" "subst" "0.000880173" "02326" "NPHP4_000089" "g.6027365C>T" "" "" "" "NPHP4(NM_015102.5):c.511G>A (p.A171T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857559" "0" "50" "1" "5924038" "5924038" "subst" "4.06673E-6" "01943" "NPHP4_000205" "g.5924038G>C" "" "" "" "NPHP4(NM_015102.4):c.4052C>G (p.T1351S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857560" "0" "10" "1" "5937289" "5937289" "subst" "0.000754167" "02330" "NPHP4_000210" "g.5937289T>C" "" "" "" "NPHP4(NM_015102.5):c.2681A>G (p.H894R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857561" "0" "30" "1" "5940191" "5940191" "subst" "4.89744E-5" "01804" "NPHP4_000211" "g.5940191G>A" "" "" "" "NPHP4(NM_001291593.1):c.1055C>T (p.(Thr352Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857562" "0" "30" "1" "5964799" "5964799" "subst" "0.000864954" "02330" "NPHP4_000131" "g.5964799C>A" "" "" "" "NPHP4(NM_015102.5):c.2021G>T (p.R674L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857563" "0" "30" "1" "6007169" "6007169" "subst" "0.000259898" "01804" "NPHP4_000216" "g.6007169C>T" "" "" "" "NPHP4(NM_001291593.1):c.-253G>A (p.(=)), NPHP4(NM_015102.4):c.1114G>A (p.G372S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857564" "0" "30" "1" "6038363" "6038363" "subst" "0" "01943" "NPHP4_000218" "g.6038363C>A" "" "" "" "NPHP4(NM_015102.4):c.246G>T (p.T82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872777" "0" "50" "1" "5933335" "5933335" "subst" "0.000694518" "00000" "NPHP4_000025" "g.5933335C>T" "" "{PMID:Chan 2016:27639845}" "" "c.3292G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000880409" "3" "90" "1" "6038329" "6052303" "del" "0" "00000" "NPHP4_000223" "g.(6046388_6052303)_(6029320_6038329)del" "" "{PMID:Sellami 2006:17114995}" "" "NPHP4 deletion of exon 2 and 3" "homozygous" "Germline" "yes" "" "0" "" "" "g.(5986328_5992243)_(5969260_5978269)del" "" "pathogenic" "" "0000880410" "3" "90" "1" "6038329" "6052303" "del" "0" "00000" "NPHP4_000223" "g.(6046388_6052303)_(6029320_6038329)del" "" "{PMID:Sellami 2006:17114995}" "" "NPHP4 deletion of exon 2 and 3" "homozygous" "Germline" "yes" "" "0" "" "" "g.(5986328_5992243)_(5969260_5978269)del" "" "pathogenic" "" "0000880411" "3" "90" "1" "6038329" "6052303" "del" "0" "00000" "NPHP4_000223" "g.(6046388_6052303)_(6029320_6038329)del" "" "{PMID:Sellami 2006:17114995}" "" "NPHP4 deletion of exon 2 and 3" "homozygous" "Germline" "yes" "" "0" "" "" "g.(5986328_5992243)_(5969260_5978269)del" "" "pathogenic" "" "0000880412" "3" "90" "1" "6038329" "6052303" "del" "0" "00000" "NPHP4_000223" "g.(6046388_6052303)_(6029320_6038329)del" "" "{PMID:Sellami 2006:17114995}" "" "NPHP4 deletion of exon 2 and 3" "homozygous" "Germline" "yes" "" "0" "" "" "g.(5986328_5992243)_(5969260_5978269)del" "" "pathogenic" "" "0000880413" "3" "90" "1" "6038329" "6052303" "del" "0" "00000" "NPHP4_000223" "g.(6046388_6052303)_(6029320_6038329)del" "" "{PMID:Sellami 2006:17114995}" "" "NPHP4 deletion of exon 2 and 3" "homozygous" "Germline" "yes" "" "0" "" "" "g.(5986328_5992243)_(5969260_5978269)del" "" "pathogenic" "" "0000880414" "3" "90" "1" "6038329" "6052303" "del" "0" "00000" "NPHP4_000223" "g.(6046388_6052303)_(6029320_6038329)del" "" "{PMID:Sellami 2006:17114995}" "" "NPHP4 deletion of exon 2 and 3" "homozygous" "Germline" "yes" "" "0" "" "" "g.(5986328_5992243)_(5969260_5978269)del" "" "pathogenic" "" "0000880424" "21" "70" "1" "5951089" "5951089" "subst" "0" "00000" "NPHP4_000220" "g.5951089C>G" "" "{PMID:Hoefele 2007:17855640}" "" "NPHP4 IVS16-1 G>C, Splice site" "heterozygous" "Germline" "yes" "" "0" "" "" "g.5891029C>G" "" "likely pathogenic" "" "0000880425" "21" "70" "1" "5951089" "5951089" "subst" "0" "00000" "NPHP4_000220" "g.5951089C>G" "" "{PMID:Hoefele 2007:17855640}" "" "NPHP4 IVS16-1 G>C, Splice site" "heterozygous" "Germline" "yes" "" "0" "" "" "g.5891029C>G" "" "likely pathogenic" "" "0000880430" "11" "50" "1" "5964769" "5964769" "subst" "2.84269E-5" "00000" "NPHP4_000221" "g.5964769T>C" "" "{PMID:Hoefele 2007:17855640}" "" "NPHP4 c.2051A>G, p.(Gln684Arg)" "single heterozygous, no second allele found" "Germline" "?" "" "0" "" "" "g.5904709T>C" "" "VUS" "" "0000880434" "0" "50" "1" "5935064" "5935064" "subst" "0.00279209" "00000" "NPHP4_000003" "g.5935064T>C" "" "{PMID:Hoefele 2007:17855640}" "" "NPHP4 c.2914A>G, p.(Ser972Gly)" "single heterozygous, no second allele found" "Germline/De novo (untested)" "?" "" "0" "" "" "g.5875004T>C" "" "VUS" "" "0000880435" "0" "50" "1" "5934581" "5934581" "subst" "0.000148371" "00000" "NPHP4_000207" "g.5934581C>T" "" "{PMID:Hoefele 2007:17855640}" "" "NPHP4 c.3181G>A, p.(Val1061Ile)" "single heterozygous, no second allele found" "Germline/De novo (untested)" "?" "" "0" "" "" "g.5874521C>T" "" "VUS" "" "0000880436" "21" "50" "1" "5951029" "5951029" "subst" "0.000408018" "00000" "NPHP4_000128" "g.5951029G>A" "" "{PMID:Hoefele 2007:17855640}" "" "NPHP4 c.2203C>T, p.(Arg735Trp)" "single heterozygous, no second allele found" "Germline" "?" "" "0" "" "" "g.5890969G>A" "" "VUS" "" "0000880441" "11" "70" "1" "5967254" "5967254" "subst" "0" "00000" "NPHP4_000222" "g.5967254G>A" "" "{PMID:Hoefele 2007:17855640}" "" "NPHP4 C1532T, P511L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.5907194G>A" "" "likely pathogenic" "" "0000880442" "11" "70" "1" "5927908" "5927911" "del" "0" "00000" "NPHP4_000219" "g.5927908_5927911del" "" "{PMID:Hoefele 2007:17855640}" "" "NPHP4 3364-3367delACTG, fsX1144" "heterozygous" "Germline" "yes" "" "0" "" "" "g.5867848_5867851del" "" "likely pathogenic" "" "0000880444" "11" "70" "1" "5950972" "5950972" "subst" "1.66479E-5" "00000" "NPHP4_000203" "g.5950972C>T" "" "{PMID:Hoefele 2007:17855640}" "" "NPHP4 G2260A, G754R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.5890912C>T" "" "likely pathogenic" "" "0000880446" "11" "70" "1" "5950972" "5950972" "subst" "1.66479E-5" "00000" "NPHP4_000203" "g.5950972C>T" "" "{PMID:Hoefele 2007:17855640}" "" "NPHP4 G2260A, G754R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.5890912C>T" "" "likely pathogenic" "" "0000883525" "0" "30" "1" "5923427" "5923427" "subst" "0.00142714" "02326" "NPHP4_000105" "g.5923427A>T" "" "" "" "NPHP4(NM_015102.4):c.4179T>A (p.F1393L), NPHP4(NM_015102.5):c.4179T>A (p.F1393L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883526" "0" "30" "1" "5934942" "5934942" "subst" "0.000737619" "02326" "NPHP4_000224" "g.5934942G>A" "" "" "" "NPHP4(NM_015102.5):c.3036C>T (p.P1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883527" "0" "30" "1" "5935110" "5935110" "subst" "0.00325501" "02326" "NPHP4_000225" "g.5935110G>A" "" "" "" "NPHP4(NM_015102.5):c.2868C>T (p.A956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883528" "0" "30" "1" "5937189" "5937189" "subst" "0.000243483" "02326" "NPHP4_000119" "g.5937189G>A" "" "" "" "NPHP4(NM_015102.5):c.2781C>T (p.A927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883529" "0" "30" "1" "5937362" "5937362" "subst" "0" "02326" "NPHP4_000226" "g.5937362C>T" "" "" "" "NPHP4(NM_015102.5):c.2612-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883530" "0" "30" "1" "5940298" "5940298" "subst" "1.2253E-5" "02326" "NPHP4_000227" "g.5940298A>G" "" "" "" "NPHP4(NM_015102.5):c.2487T>C (p.G829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883531" "0" "10" "1" "5967244" "5967244" "subst" "0.00133911" "02326" "NPHP4_000064" "g.5967244C>T" "" "" "" "NPHP4(NM_015102.4):c.1542G>A (p.P514=), NPHP4(NM_015102.5):c.1542G>A (p.P514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883532" "0" "30" "1" "5993194" "5993194" "subst" "2.41833E-5" "02330" "NPHP4_000228" "g.5993194C>G" "" "" "" "NPHP4(NM_015102.5):c.1302+13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883533" "0" "90" "1" "5993239" "5993239" "del" "0" "02326" "NPHP4_000229" "g.5993239del" "" "" "" "NPHP4(NM_015102.5):c.1271delA (p.K424Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883534" "0" "30" "1" "6038324" "6038324" "subst" "8.75373E-5" "02330" "NPHP4_000230" "g.6038324G>A" "" "" "" "NPHP4(NM_015102.5):c.279+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911103" "0" "10" "1" "5925304" "5925304" "subst" "0.00131813" "02326" "NPHP4_000111" "g.5925304G>A" "" "" "" "NPHP4(NM_015102.3):c.3674C>T (p.(Thr1225Met)), NPHP4(NM_015102.4):c.3674C>T (p.T1225M), NPHP4(NM_015102.5):c.3674C>T (p.T1225M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911104" "0" "30" "1" "5934594" "5934594" "subst" "0.000710489" "02326" "NPHP4_000029" "g.5934594G>A" "" "" "" "NPHP4(NM_015102.4):c.3168C>T (p.H1056=), NPHP4(NM_015102.5):c.3168C>T (p.H1056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911105" "0" "30" "1" "5934914" "5934914" "subst" "0.00100905" "02330" "NPHP4_000231" "g.5934914G>A" "" "" "" "NPHP4(NM_015102.5):c.3044+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911106" "0" "30" "1" "5935086" "5935086" "subst" "4.11848E-5" "02326" "NPHP4_000171" "g.5935086G>A" "" "" "" "NPHP4(NM_015102.4):c.2892C>T (p.A964=), NPHP4(NM_015102.5):c.2892C>T (p.A964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911107" "0" "30" "1" "5969193" "5969193" "subst" "0.000167512" "02326" "NPHP4_000232" "g.5969193G>A" "" "" "" "NPHP4(NM_015102.5):c.1503+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911108" "0" "30" "1" "6012895" "6012895" "subst" "9.59255E-5" "02326" "NPHP4_000233" "g.6012895G>A" "" "" "" "NPHP4(NM_015102.5):c.675C>T (p.G225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923215" "0" "30" "1" "5924483" "5924483" "subst" "0.000328043" "02326" "NPHP4_000234" "g.5924483T>C" "" "" "" "NPHP4(NM_015102.5):c.3911A>G (p.H1304R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923216" "0" "70" "1" "5926432" "5926432" "subst" "0" "02326" "NPHP4_000235" "g.5926432C>T" "" "" "" "NPHP4(NM_015102.5):c.3644+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923217" "0" "30" "1" "6012746" "6012746" "subst" "0.000307655" "02326" "NPHP4_000236" "g.6012746T>G" "" "" "" "NPHP4(NM_015102.5):c.810+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928195" "0" "30" "1" "5925348" "5925348" "subst" "0.00038119" "02326" "NPHP4_000014" "g.5925348G>A" "" "" "" "NPHP4(NM_015102.4):c.3645-15C>T, NPHP4(NM_015102.5):c.3645-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928196" "0" "50" "1" "5927130" "5927130" "subst" "0.000200343" "02327" "NPHP4_000019" "g.5927130C>T" "" "" "" "NPHP4(NM_015102.4):c.3518G>A (p.R1173H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928197" "0" "50" "1" "5934526" "5934526" "subst" "4.17165E-5" "02327" "NPHP4_000237" "g.5934526C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928198" "0" "30" "1" "5935076" "5935076" "subst" "0.000242278" "02326" "NPHP4_000001" "g.5935076C>T" "" "" "" "NPHP4(NM_015102.4):c.2902G>A (p.A968T), NPHP4(NM_015102.5):c.2902G>A (p.A968T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928199" "0" "30" "1" "5950982" "5950982" "subst" "0.000108008" "02326" "NPHP4_000238" "g.5950982G>A" "" "" "" "NPHP4(NM_015102.5):c.2250C>T (p.D750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928200" "0" "30" "1" "5964789" "5964789" "subst" "0.00235129" "02326" "NPHP4_000130" "g.5964789G>A" "" "" "" "NPHP4(NM_015102.4):c.2031C>T (p.P677=), NPHP4(NM_015102.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928201" "0" "30" "1" "6038478" "6038478" "del" "0" "02326" "NPHP4_000097" "g.6038478del" "" "" "" "NPHP4(NM_015102.3):c.136-4del (p.?), NPHP4(NM_015102.5):c.136-4delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947278" "0" "10" "1" "5951013" "5951013" "subst" "0.0249055" "02330" "NPHP4_000051" "g.5951013C>T" "" "" "" "NPHP4(NM_015102.4):c.2219G>A (p.R740H), NPHP4(NM_015102.5):c.2219G>A (p.R740H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947279" "0" "30" "1" "5964799" "5964799" "subst" "0.000864954" "02326" "NPHP4_000131" "g.5964799C>A" "" "" "" "NPHP4(NM_015102.5):c.2021G>T (p.R674L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961107" "0" "10" "1" "5925304" "5925304" "subst" "0.00131813" "02330" "NPHP4_000111" "g.5925304G>A" "" "" "" "NPHP4(NM_015102.3):c.3674C>T (p.(Thr1225Met)), NPHP4(NM_015102.4):c.3674C>T (p.T1225M), NPHP4(NM_015102.5):c.3674C>T (p.T1225M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000961110" "0" "30" "1" "5987710" "5987710" "subst" "7.7749E-5" "02330" "NPHP4_000191" "g.5987710C>T" "" "" "" "NPHP4(NM_001291593.1):c.74G>A (p.R25Q), NPHP4(NM_001291593.2):c.74G>A (p.R25Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961112" "0" "30" "1" "6008178" "6008178" "subst" "0.00115006" "02326" "NPHP4_000083" "g.6008178G>A" "" "" "" "NPHP4(NM_015102.4):c.944C>T (p.T315M), NPHP4(NM_015102.5):c.944C>T (p.T315M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972434" "1" "90" "1" "5951034" "5951034" "subst" "8.02331E-5" "00006" "NPHP4_000245" "g.5951034C>T" "" "{PMID:Fujimaru 2018:29520754}, {PMID:Fujimaru 2021:34013113}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.5890974C>T" "" "pathogenic (recessive)" "" "0000972458" "2" "90" "1" "5937253" "5937253" "subst" "0.00016654" "00006" "NPHP4_000240" "g.5937253C>T" "" "{PMID:Fujimaru 2018:29520754}, {PMID:Fujimaru 2021:34013113}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.5877193C>T" "" "pathogenic (recessive)" "" "0000974039" "0" "50" "1" "5924540" "5924540" "subst" "0" "01804" "NPHP4_000108" "g.5924540C>T" "" "" "" "NPHP4(NM_015102.5):c.3854G>A (p.G1285E, p.(Gly1285Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974040" "0" "50" "1" "5934581" "5934581" "subst" "0.000148371" "01804" "NPHP4_000207" "g.5934581C>T" "" "" "" "NPHP4(NM_015102.4):c.3181G>A (p.V1061I), NPHP4(NM_015102.5):c.3181G>A (p.(Val1061Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974041" "0" "50" "1" "5935132" "5935132" "subst" "0" "01804" "NPHP4_000239" "g.5935132A>G" "" "" "" "NPHP4(NM_015102.5):c.2846T>C (p.(Leu949Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974042" "0" "50" "1" "5937341" "5937341" "subst" "0" "01804" "NPHP4_000241" "g.5937341C>T" "" "" "" "NPHP4(NM_015102.5):c.2629G>A (p.(Ala877Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974043" "0" "50" "1" "5939658" "5939658" "subst" "0" "01804" "NPHP4_000242" "g.5939658T>A" "" "" "" "NPHP4(NM_015102.3):c.2611+516A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974044" "0" "50" "1" "5950957" "5950957" "subst" "2.89543E-5" "01804" "NPHP4_000243" "g.5950957G>A" "" "" "" "NPHP4(NM_015102.5):c.2275C>T (p.(Leu759Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974045" "0" "50" "1" "5951002" "5951002" "subst" "8.37142E-5" "01804" "NPHP4_000244" "g.5951002C>T" "" "" "" "NPHP4(NM_015102.5):c.2230G>A (p.(Val744Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974046" "0" "50" "1" "5965370" "5965370" "subst" "0" "01804" "NPHP4_000246" "g.5965370T>G" "" "" "" "NPHP4(NM_015102.5):c.1937A>C (p.(Gln646Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974047" "0" "30" "1" "5965495" "5965495" "subst" "3.25219E-5" "02326" "NPHP4_000190" "g.5965495G>A" "" "" "" "NPHP4(NM_015102.4):c.1812C>T (p.S604=), NPHP4(NM_015102.5):c.1812C>T (p.S604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974048" "0" "50" "1" "6008176" "6008176" "subst" "0.00023565" "01804" "NPHP4_000247" "g.6008176G>A" "" "" "" "NPHP4(NM_015102.5):c.946C>T (p.(Arg316Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974049" "0" "30" "1" "6021845" "6021845" "subst" "0.000114103" "01804" "NPHP4_000248" "g.6021845C>T" "" "" "" "NPHP4(NM_015102.5):c.673+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974050" "0" "50" "1" "6027419" "6027419" "subst" "0" "01804" "NPHP4_000249" "g.6027419G>A" "" "" "" "NPHP4(NM_015102.5):c.457C>T (p.(Arg153Trp), p.R153W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974051" "0" "50" "1" "6027419" "6027419" "subst" "0" "02325" "NPHP4_000249" "g.6027419G>A" "" "" "" "NPHP4(NM_015102.5):c.457C>T (p.(Arg153Trp), p.R153W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974052" "0" "50" "1" "6038338" "6038338" "subst" "0.000896712" "02325" "NPHP4_000140" "g.6038338A>G" "" "" "" "NPHP4(NM_015102.4):c.271T>C (p.F91L), NPHP4(NM_015102.5):c.271T>C (p.F91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974053" "0" "30" "1" "6158547" "6158547" "subst" "4.08797E-6" "01804" "CHD5_000016" "g.6158547C>T" "" "" "" "KCNAB2(NM_001199862.2):c.1161C>T (p.(Val387=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991353" "0" "50" "1" "6008260" "6008260" "subst" "5.204E-5" "01804" "NPHP4_000250" "g.6008260G>A" "" "" "" "NPHP4(NM_015102.3):c.862C>T (p.(Arg288Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991360" "0" "30" "1" "6038341" "6038341" "subst" "8.94325E-5" "01804" "NPHP4_000251" "g.6038341C>G" "" "" "" "NPHP4(NM_015102.3):c.268G>C (p.(Val90Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991361" "0" "30" "1" "6111718" "6111718" "subst" "0.00158967" "02330" "KCNAB2_000002" "g.6111718G>A" "" "" "" "KCNAB2(NM_001199862.1):c.122G>A (p.(Arg41Gln)), KCNAB2(NM_001199862.2):c.122G>A (p.R41Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991362" "0" "10" "1" "6111757" "6111757" "subst" "0.0262312" "02330" "KCNAB2_000007" "g.6111757G>A" "" "" "" "KCNAB2(NM_001199862.2):c.161G>A (p.R54H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991363" "0" "10" "1" "6111824" "6111824" "subst" "0.000400549" "02330" "KCNAB2_000008" "g.6111824G>A" "" "" "" "KCNAB2(NM_001199862.2):c.218+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991364" "0" "10" "1" "6142308" "6142308" "subst" "0.0864068" "02330" "KCNAB2_000009" "g.6142308T>C" "" "" "" "KCNAB2(NM_001199862.2):c.354T>C (p.D118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991365" "0" "10" "1" "6149053" "6149053" "subst" "0.0928118" "02330" "KCNAB2_000010" "g.6149053C>T" "" "" "" "KCNAB2(NM_001199862.2):c.471-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991366" "0" "10" "1" "6149122" "6149122" "subst" "0.0939152" "02330" "KCNAB2_000011" "g.6149122G>A" "" "" "" "KCNAB2(NM_001199862.2):c.514+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991367" "0" "50" "1" "6150508" "6150508" "subst" "8.14545E-6" "02330" "KCNAB2_000012" "g.6150508C>T" "" "" "" "KCNAB2(NM_001199862.2):c.574C>T (p.R192C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991370" "0" "10" "1" "6157434" "6157434" "subst" "0.467844" "02330" "CHD5_000025" "g.6157434C>T" "" "" "" "KCNAB2(NM_001199862.2):c.1158+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991371" "0" "10" "1" "6158562" "6158562" "subst" "0.574499" "02330" "CHD5_000026" "g.6158562A>G" "" "" "" "KCNAB2(NM_001199862.2):c.1176A>G (p.S392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013335" "0" "10" "1" "6111721" "6111721" "subst" "0.00394426" "02330" "KCNAB2_000013" "g.6111721C>T" "" "" "" "KCNAB2(NM_001199862.2):c.125C>T (p.A42V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013336" "0" "10" "1" "6150431" "6150431" "subst" "0.000554779" "02330" "KCNAB2_000014" "g.6150431C>G" "" "" "" "KCNAB2(NM_001199862.2):c.515-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024188" "0" "30" "1" "5927169" "5927169" "subst" "0.0109196" "01943" "NPHP4_000020" "g.5927169G>A" "" "" "" "NPHP4(NM_001291593.1):c.1940C>T (p.(Pro647Leu)), NPHP4(NM_015102.4):c.3479C>T (p.P1160L), NPHP4(NM_015102.5):c.3479C>T (p.P1160L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024189" "0" "70" "1" "5927908" "5927908" "subst" "9.34336E-5" "02327" "NPHP4_000176" "g.5927908T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024190" "0" "30" "1" "5947373" "5947373" "subst" "0.000322236" "02326" "NPHP4_000045" "g.5947373G>A" "" "" "" "NPHP4(NM_015102.4):c.2458C>T (p.R820W), NPHP4(NM_015102.5):c.2458C>T (p.R820W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024191" "0" "70" "1" "6046338" "6046338" "subst" "2.84761E-5" "02327" "NPHP4_000252" "g.6046338C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024192" "0" "10" "1" "6111689" "6111689" "subst" "4.67618E-5" "02330" "KCNAB2_000015" "g.6111689G>A" "" "" "" "KCNAB2(NM_001199862.2):c.93G>A (p.T31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024193" "0" "30" "1" "6111717" "6111717" "subst" "7.87191E-5" "02330" "KCNAB2_000016" "g.6111717C>T" "" "" "" "KCNAB2(NM_001199862.2):c.121C>T (p.R41W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024194" "0" "10" "1" "6145273" "6145273" "subst" "0.00294554" "02330" "KCNAB2_000017" "g.6145273G>A" "" "" "" "KCNAB2(NM_001199862.2):c.390G>A (p.V130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024196" "0" "50" "1" "6158643" "6158643" "subst" "3.69452E-5" "02330" "CHD5_000034" "g.6158643C>T" "" "" "" "KCNAB2(NM_001199862.2):c.*9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030942" "3" "90" "1" "5934977" "5934983" "del" "0" "00006" "NPHP4_000253" "g.5934977_5934983del" "" "{PMID:Karam 2024:38895833}, {DOI:Karam 2024:10.1002/jcla.25077}" "" "2999_3005delTGTGTGT" "" "Germline" "yes" "" "0" "" "" "g.5874917_5874923del" "" "pathogenic (recessive)" "" "0001030943" "3" "90" "1" "5934977" "5934983" "del" "0" "00006" "NPHP4_000253" "g.5934977_5934983del" "" "{PMID:Karam 2024:38895833}, {DOI:Karam 2024:10.1002/jcla.25077}" "" "" "" "Germline" "yes" "" "0" "" "" ":g.5874917_5874923del" "" "pathogenic (recessive)" "" "0001032130" "0" "30" "1" "5924518" "5924518" "subst" "0.00928264" "01804" "NPHP4_000100" "g.5924518G>A" "" "" "" "NPHP4(NM_015102.5):c.3876C>T (p.(Gly1292=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032131" "0" "50" "1" "5937247" "5937247" "subst" "8.32581E-5" "01804" "NPHP4_000254" "g.5937247G>A" "" "" "" "NPHP4(NM_015102.5):c.2723C>T (p.(Ser908Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032132" "0" "50" "1" "5937328" "5937328" "subst" "0" "01804" "NPHP4_000255" "g.5937328G>A" "" "" "" "NPHP4(NM_015102.5):c.2642C>T (p.(Ala881Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032133" "0" "50" "1" "5947473" "5947475" "del" "0" "01804" "NPHP4_000256" "g.5947473_5947475del" "" "" "" "NPHP4(NM_015102.5):c.2358_2360del (p.(Val787del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032134" "0" "50" "1" "5965427" "5965427" "subst" "0.000203047" "01804" "NPHP4_000056" "g.5965427G>A" "" "" "" "NPHP4(NM_015102.5):c.1880C>T (p.(Thr627Met), p.T627M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032135" "0" "50" "1" "5993238" "5993238" "subst" "0" "01804" "NPHP4_000137" "g.5993238T>C" "" "" "" "NPHP4(NM_015102.4):c.1271A>G (p.K424R), NPHP4(NM_015102.5):c.1271A>G (p.K424R, p.(Lys424Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032137" "0" "10" "1" "6142329" "6142329" "subst" "0.00963242" "02330" "KCNAB2_000018" "g.6142329C>T" "" "" "" "KCNAB2(NM_001199862.2):c.375C>T (p.A125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001032138" "0" "10" "1" "6142344" "6142348" "del" "0" "02330" "KCNAB2_000019" "g.6142344_6142348del" "" "" "" "KCNAB2(NM_001199862.2):c.380+10_380+14delTTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NPHP4 ## Count = 420 "{{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}}" "0000000119" "00025432" "50" "3859" "0" "3859" "0" "c.3859C>G" "r.(?)" "p.(Gln1287Glu)" "" "0000000120" "00025432" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Trp)" "" "0000000121" "00025432" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Trp)" "" "0000000122" "00025432" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Trp)" "" "0000000123" "00025432" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Trp)" "" "0000000124" "00025432" "50" "2914" "0" "2914" "0" "c.2914A>G" "r.(?)" "p.(Ser972Gly)" "" "0000000125" "00025432" "50" "2914" "0" "2914" "0" "c.2914A>G" "r.(?)" "p.(Ser972Gly)" "" "0000019537" "00025432" "95" "111" "0" "111" "0" "c.111G>A" "r.(?)" "p.(Trp37*)" "2" "0000019538" "00025432" "95" "3506" "0" "3506" "0" "c.3506del" "r.(?)" "p.(Pro1169Glnfs*28)" "25" "0000059950" "00025432" "10" "2902" "0" "2902" "0" "c.2902G>A" "r.(?)" "p.(Ala968Thr)" "21" "0000059951" "00025432" "50" "3385" "0" "3385" "0" "c.3385G>A" "r.(?)" "p.(Val1129Met)" "24" "0000245513" "00025432" "10" "2818" "-15" "2818" "-15" "c.2818-15T>G" "r.(=)" "p.(=)" "" "0000247859" "00025432" "10" "2818" "-2" "2818" "-2" "c.2818-2T>A" "r.spl?" "p.?" "" "0000250641" "00025432" "10" "2818" "-2" "2818" "-2" "c.2818-2T>A" "r.spl?" "p.?" "" "0000251228" "00025432" "10" "3559" "-64" "3559" "-64" "c.3559-64del" "r.(=)" "p.(=)" "" "0000252993" "00025432" "10" "2818" "-2" "2818" "-2" "c.2818-2T>A" "r.spl?" "p.?" "" "0000254469" "00025432" "30" "2307" "0" "2307" "0" "c.2307T>C" "r.(?)" "p.(His769=)" "" "0000255962" "00025432" "50" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Phe62Val)" "" "0000256319" "00025432" "50" "1157" "0" "1157" "0" "c.1157T>C" "r.(?)" "p.(Met386Thr)" "" "0000293197" "00025432" "50" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Arg342Cys)" "" "0000293198" "00025432" "10" "1120" "-13" "1120" "-13" "c.1120-13G>T" "r.(=)" "p.(=)" "" "0000293199" "00025432" "10" "136" "-4" "136" "-4" "c.136-4del" "r.spl?" "p.?" "" "0000293201" "00025432" "10" "1442" "-7" "1442" "-7" "c.1442-7C>T" "r.(=)" "p.(=)" "" "0000293202" "00025432" "50" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Pro482Leu)" "" "0000293203" "00025432" "10" "1503" "10" "1503" "10" "c.1503+10G>A" "r.(=)" "p.(=)" "" "0000293204" "00025432" "10" "1542" "0" "1542" "0" "c.1542G>A" "r.(?)" "p.(Pro514=)" "" "0000293205" "00025432" "10" "1705" "0" "1705" "0" "c.1705C>G" "r.(?)" "p.(Gln569Glu)" "" "0000293206" "00025432" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Ter)" "" "0000293207" "00025432" "10" "2257" "0" "2257" "0" "c.2257G>A" "r.(?)" "p.(Asp753Asn)" "" "0000293208" "00025432" "30" "2431" "0" "2431" "0" "c.2431A>G" "r.(?)" "p.(Ile811Val)" "" "0000293209" "00025432" "10" "2687" "0" "2687" "0" "c.2687G>A" "r.(?)" "p.(Arg896Gln)" "" "0000293210" "00025432" "10" "2687" "0" "2687" "0" "c.2687G>T" "r.(?)" "p.(Arg896Leu)" "" "0000293211" "00025432" "10" "279" "11" "279" "11" "c.279+11G>A" "r.(=)" "p.(=)" "" "0000293212" "00025432" "10" "2886" "0" "2886" "0" "c.2886G>A" "r.(?)" "p.(Thr962=)" "" "0000293213" "00025432" "30" "2902" "0" "2902" "0" "c.2902G>A" "r.(?)" "p.(Ala968Thr)" "" "0000293214" "00025432" "30" "2914" "0" "2914" "0" "c.2914A>G" "r.(?)" "p.(Ser972Gly)" "" "0000293215" "00025432" "10" "2952" "0" "2952" "0" "c.2952G>A" "r.(?)" "p.(Thr984=)" "" "0000293216" "00025432" "10" "3105" "0" "3105" "0" "c.3105G>A" "r.(?)" "p.(Pro1035=)" "" "0000293217" "00025432" "10" "3174" "0" "3174" "0" "c.3174C>T" "r.(?)" "p.(Thr1058=)" "" "0000293218" "00025432" "30" "3329" "0" "3329" "0" "c.3329C>T" "r.(?)" "p.(Ala1110Val)" "" "0000293219" "00025432" "10" "3351" "0" "3351" "0" "c.3351C>T" "r.(?)" "p.(Ala1117=)" "" "0000293220" "00025432" "10" "354" "0" "354" "0" "c.354A>G" "r.(?)" "p.(Lys118=)" "" "0000293221" "00025432" "30" "3559" "-19" "3559" "-19" "c.3559-19del" "r.(=)" "p.(=)" "" "0000293222" "00025432" "30" "4099" "0" "4099" "0" "c.4099G>A" "r.(?)" "p.(Asp1367Asn)" "" "0000293223" "00025432" "10" "4114" "0" "4114" "0" "c.4114C>T" "r.(?)" "p.(Leu1372=)" "" "0000293224" "00025432" "30" "4141" "-11" "4141" "-11" "c.4141-11C>T" "r.(=)" "p.(=)" "" "0000293225" "00025432" "50" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Pro140Leu)" "" "0000293226" "00025432" "10" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "" "0000293227" "00025432" "50" "7" "0" "7" "0" "c.7G>T" "r.(?)" "p.(Asp3Tyr)" "" "0000293228" "00025432" "30" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Thr315Met)" "" "0000296591" "00025432" "10" "2305" "-1151" "2305" "-1151" "c.2305-1151C>T" "r.(=)" "p.(=)" "" "0000296592" "00025432" "10" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Trp)" "" "0000296593" "00025432" "10" "2643" "0" "2643" "0" "c.2643G>A" "r.(?)" "p.(Ala881=)" "" "0000296594" "00025432" "10" "2802" "0" "2802" "0" "c.2802C>T" "r.(?)" "p.(Arg934=)" "" "0000296595" "00025432" "10" "3570" "0" "3570" "0" "c.3570A>G" "r.(?)" "p.(Glu1190=)" "" "0000300354" "00025432" "10" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Leu490=)" "" "0000300355" "00025432" "10" "1490" "0" "1490" "0" "c.1490C>G" "r.(?)" "p.(Pro497Arg)" "" "0000300356" "00025432" "10" "1503" "10" "1503" "10" "c.1503+10G>A" "r.(=)" "p.(=)" "" "0000300357" "00025432" "10" "1503" "73" "1503" "73" "c.1503+73C>T" "r.(=)" "p.(=)" "" "0000300358" "00025432" "10" "1631" "0" "1631" "0" "c.1631C>G" "r.(?)" "p.(Ala544Gly)" "" "0000300359" "00025432" "10" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Glu618Lys)" "" "0000300360" "00025432" "30" "1880" "0" "1880" "0" "c.1880C>T" "r.(?)" "p.(Thr627Met)" "" "0000300361" "00025432" "10" "2219" "0" "2219" "0" "c.2219G>A" "r.(?)" "p.(Arg740His)" "" "0000300362" "00025432" "10" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Trp)" "" "0000300363" "00025432" "10" "2611" "337" "2611" "337" "c.2611+337C>T" "r.(=)" "p.(=)" "" "0000300364" "00025432" "10" "2876" "0" "2876" "0" "c.2876G>A" "r.(?)" "p.(Arg959Gln)" "" "0000300365" "00025432" "30" "2914" "0" "2914" "0" "c.2914A>G" "r.(?)" "p.(Ser972Gly)" "" "0000300366" "00025432" "10" "3044" "47" "3044" "47" "c.3044+47G>A" "r.(=)" "p.(=)" "" "0000300367" "00025432" "10" "3479" "0" "3479" "0" "c.3479C>T" "r.(?)" "p.(Pro1160Leu)" "" "0000300368" "00025432" "10" "452" "59" "452" "60" "c.452+59_452+60del" "r.(=)" "p.(=)" "" "0000300369" "00025432" "10" "452" "60" "452" "60" "c.452+60del" "r.(=)" "p.(=)" "" "0000300370" "00025432" "10" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Val264Ile)" "" "0000300371" "00025432" "10" "86" "0" "86" "0" "c.86C>T" "r.(?)" "p.(Thr29Met)" "" "0000300372" "00025432" "10" "993" "-56" "993" "-56" "c.993-56C>T" "r.(=)" "p.(=)" "" "0000304462" "00025432" "50" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Arg342Cys)" "" "0000304463" "00025432" "30" "1089" "0" "1089" "0" "c.1089G>T" "r.(?)" "p.(Val363=)" "" "0000304464" "00025432" "50" "1118" "0" "1118" "0" "c.1118A>G" "r.(?)" "p.(Asn373Ser)" "" "0000304465" "00025432" "30" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(Gly46=)" "" "0000304466" "00025432" "50" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Ser480Leu)" "" "0000304467" "00025432" "10" "1441" "13" "1441" "13" "c.1441+13A>G" "r.(=)" "p.(=)" "" "0000304468" "00025432" "10" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Leu490=)" "" "0000304469" "00025432" "10" "1542" "0" "1542" "0" "c.1542G>A" "r.(?)" "p.(Pro514=)" "" "0000304470" "00025432" "50" "1612" "-11" "1612" "-11" "c.1612-11G>A" "r.(=)" "p.(=)" "" "0000304471" "00025432" "10" "1631" "0" "1631" "0" "c.1631C>G" "r.(?)" "p.(Ala544Gly)" "" "0000304472" "00025432" "10" "1763" "6" "1763" "6" "c.1763+6G>T" "r.(=)" "p.(=)" "" "0000304473" "00025432" "30" "1764" "-5" "1764" "-5" "c.1764-5C>T" "r.spl?" "p.?" "" "0000304474" "00025432" "30" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Glu618Lys)" "" "0000304475" "00025432" "30" "1867" "0" "1867" "0" "c.1867A>G" "r.(?)" "p.(Thr623Ala)" "" "0000304476" "00025432" "30" "1923" "0" "1923" "0" "c.1923C>T" "r.(?)" "p.(Asn641=)" "" "0000304477" "00025432" "10" "1926" "0" "1926" "0" "c.1926G>A" "r.(?)" "p.(Glu642=)" "" "0000304478" "00025432" "30" "1966" "0" "1966" "0" "c.1966G>A" "r.(?)" "p.(Asp656Asn)" "" "0000304479" "00025432" "10" "2219" "0" "2219" "0" "c.2219G>A" "r.(?)" "p.(Arg740His)" "" "0000304480" "00025432" "50" "2327" "0" "2327" "0" "c.2327C>G" "r.(?)" "p.(Pro776Arg)" "" "0000304481" "00025432" "50" "2458" "0" "2458" "0" "c.2458C>T" "r.(?)" "p.(Arg820Trp)" "" "0000304482" "00025432" "30" "2491" "0" "2491" "0" "c.2491C>A" "r.(?)" "p.(Pro831Thr)" "" "0000304483" "00025432" "30" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Trp)" "" "0000304484" "00025432" "10" "2643" "0" "2643" "0" "c.2643G>A" "r.(?)" "p.(Ala881=)" "" "0000304485" "00025432" "50" "2647" "0" "2647" "0" "c.2647G>A" "r.(?)" "p.(Val883Met)" "" "0000304486" "00025432" "10" "2802" "0" "2802" "0" "c.2802C>T" "r.(?)" "p.(Arg934=)" "" "0000304487" "00025432" "30" "2886" "0" "2886" "0" "c.2886G>A" "r.(?)" "p.(Thr962=)" "" "0000304488" "00025432" "30" "2914" "0" "2914" "0" "c.2914A>G" "r.(?)" "p.(Ser972Gly)" "" "0000304489" "00025432" "50" "2939" "0" "2939" "0" "c.2939C>T" "r.(?)" "p.(Thr980Met)" "" "0000304490" "00025432" "30" "3168" "0" "3168" "0" "c.3168C>T" "r.(?)" "p.(His1056=)" "" "0000304491" "00025432" "30" "3243" "0" "3243" "0" "c.3243G>C" "r.(?)" "p.(Gly1081=)" "" "0000304492" "00025432" "50" "3292" "0" "3292" "0" "c.3292G>A" "r.(?)" "p.(Ala1098Thr)" "" "0000304493" "00025432" "30" "3329" "0" "3329" "0" "c.3329C>T" "r.(?)" "p.(Ala1110Val)" "" "0000304494" "00025432" "50" "3352" "0" "3352" "0" "c.3352G>A" "r.(?)" "p.(Val1118Met)" "" "0000304495" "00025432" "50" "3413" "0" "3413" "0" "c.3413A>T" "r.(?)" "p.(His1138Leu)" "" "0000304496" "00025432" "50" "3518" "0" "3518" "0" "c.3518G>A" "r.(?)" "p.(Arg1173His)" "" "0000304497" "00025432" "10" "3570" "0" "3570" "0" "c.3570A>G" "r.(?)" "p.(Glu1190=)" "" "0000304498" "00025432" "30" "3645" "-15" "3645" "-15" "c.3645-15C>T" "r.(=)" "p.(=)" "" "0000304499" "00025432" "30" "3762" "0" "3762" "0" "c.3762G>A" "r.(?)" "p.(Gly1254=)" "" "0000304500" "00025432" "30" "3927" "0" "3927" "0" "c.3927C>T" "r.(?)" "p.(Asp1309=)" "" "0000304501" "00025432" "50" "4034" "0" "4034" "0" "c.4034G>A" "r.(?)" "p.(Gly1345Asp)" "" "0000304502" "00025432" "30" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Pro193Leu)" "" "0000304503" "00025432" "50" "7" "0" "7" "0" "c.7G>T" "r.(?)" "p.(Asp3Tyr)" "" "0000304504" "00025432" "30" "800" "0" "800" "0" "c.800A>T" "r.(?)" "p.(His267Leu)" "" "0000304505" "00025432" "10" "86" "0" "86" "0" "c.86C>T" "r.(?)" "p.(Thr29Met)" "" "0000320484" "00025432" "30" "3479" "0" "3479" "0" "c.3479C>T" "r.(?)" "p.(Pro1160Leu)" "" "0000320485" "00025432" "30" "3329" "0" "3329" "0" "c.3329C>T" "r.(?)" "p.(Ala1110Val)" "" "0000320487" "00025432" "50" "2965" "0" "2965" "0" "c.2965G>A" "r.(?)" "p.(Glu989Lys)" "" "0000320488" "00025432" "30" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Glu618Lys)" "" "0000320491" "00025432" "50" "1067" "0" "1067" "0" "c.1067T>C" "r.(?)" "p.(Val356Ala)" "" "0000320492" "00025432" "50" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Arg342Cys)" "" "0000320493" "00025432" "30" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Pro301Leu)" "" "0000320495" "00025432" "50" "-59417" "0" "-59417" "0" "c.-59417G>A" "r.(?)" "p.(=)" "" "0000320496" "00025432" "50" "-59453" "0" "-59453" "0" "c.-59453C>T" "r.(?)" "p.(=)" "" "0000340253" "00025432" "10" "3876" "0" "3876" "0" "c.3876C>T" "r.(?)" "p.(Gly1292=)" "" "0000340254" "00025432" "10" "3570" "0" "3570" "0" "c.3570A>G" "r.(?)" "p.(Glu1190=)" "" "0000340255" "00025432" "10" "2802" "0" "2802" "0" "c.2802C>T" "r.(?)" "p.(Arg934=)" "" "0000342683" "00025432" "30" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Arg342Cys)" "" "0000343895" "00025432" "90" "357" "0" "372" "0" "c.357_372del" "r.(?)" "p.(Asp120HisfsTer53)" "" "0000344491" "00025432" "90" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Gln1066Ter)" "" "0000348362" "00025432" "50" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Pro301Leu)" "" "0000358293" "00025432" "90" "2611" "75" "3315" "484" "c.2611+75_3315+484del" "r.?" "p.?" "" "0000508018" "00025432" "50" "4179" "0" "4179" "0" "c.4179T>A" "r.(?)" "p.(Phe1393Leu)" "" "0000508019" "00025432" "50" "4179" "0" "4179" "0" "c.4179T>A" "r.(?)" "p.(Phe1393Leu)" "" "0000508020" "00025432" "50" "4179" "0" "4179" "0" "c.4179T>A" "r.(?)" "p.(Phe1393Leu)" "" "0000508021" "00025432" "30" "4092" "0" "4092" "0" "c.4092G>A" "r.(?)" "p.(Leu1364=)" "" "0000508022" "00025432" "10" "3894" "0" "3894" "0" "c.3894C>T" "r.(?)" "p.(Ala1298=)" "" "0000508023" "00025432" "30" "3854" "0" "3854" "0" "c.3854G>A" "r.(?)" "p.(Gly1285Glu)" "" "0000508024" "00025432" "30" "3837" "0" "3837" "0" "c.3837C>T" "r.(?)" "p.(Phe1279=)" "" "0000508025" "00025432" "10" "3810" "0" "3810" "0" "c.3810G>A" "r.(?)" "p.(Glu1270=)" "" "0000508026" "00025432" "50" "3674" "0" "3674" "0" "c.3674C>T" "r.(?)" "p.(Thr1225Met)" "" "0000508027" "00025432" "10" "3574" "0" "3574" "0" "c.3574C>T" "r.(?)" "p.(Arg1192Trp)" "" "0000508028" "00025432" "50" "3574" "0" "3574" "0" "c.3574C>T" "r.(?)" "p.(Arg1192Trp)" "" "0000508029" "00025432" "30" "3559" "-19" "3559" "-19" "c.3559-19del" "r.(=)" "p.(=)" "" "0000508032" "00025432" "50" "3292" "0" "3292" "0" "c.3292G>A" "r.(?)" "p.(Ala1098Thr)" "" "0000508033" "00025432" "30" "3174" "0" "3174" "0" "c.3174C>T" "r.(?)" "p.(Thr1058=)" "" "0000508034" "00025432" "10" "3168" "0" "3168" "0" "c.3168C>T" "r.(?)" "p.(His1056=)" "" "0000508037" "00025432" "50" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Thr1004Met)" "" "0000508038" "00025432" "50" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Thr1004Met)" "" "0000508039" "00025432" "30" "2962" "0" "2962" "0" "c.2962G>A" "r.(?)" "p.(Ala988Thr)" "" "0000508041" "00025432" "50" "2927" "0" "2927" "0" "c.2927C>T" "r.(?)" "p.(Thr976Ile)" "" "0000508042" "00025432" "50" "2927" "0" "2927" "0" "c.2927C>T" "r.(?)" "p.(Thr976Ile)" "" "0000508045" "00025432" "30" "2781" "0" "2781" "0" "c.2781C>T" "r.(?)" "p.(Ala927=)" "" "0000508046" "00025432" "50" "2671" "0" "2671" "0" "c.2671C>G" "r.(?)" "p.(Leu891Val)" "" "0000508047" "00025432" "90" "2611" "0" "2611" "0" "c.2611C>T" "r.(?)" "p.(Arg871Ter)" "" "0000508048" "00025432" "10" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Trp)" "" "0000508050" "00025432" "50" "2426" "0" "2426" "0" "c.2426A>G" "r.(?)" "p.(Lys809Arg)" "" "0000508051" "00025432" "50" "2389" "0" "2389" "0" "c.2389G>C" "r.(?)" "p.(Val797Leu)" "" "0000508052" "00025432" "10" "2361" "0" "2361" "0" "c.2361G>A" "r.(?)" "p.(Val787=)" "" "0000508053" "00025432" "50" "2327" "0" "2327" "0" "c.2327C>T" "r.(?)" "p.(Pro776Leu)" "" "0000508055" "00025432" "10" "2257" "0" "2257" "0" "c.2257G>A" "r.(?)" "p.(Asp753Asn)" "" "0000508057" "00025432" "50" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Trp)" "" "0000508059" "00025432" "30" "2031" "0" "2031" "0" "c.2031C>T" "r.(?)" "p.(Pro677=)" "" "0000508061" "00025432" "10" "1966" "0" "1966" "0" "c.1966G>A" "r.(?)" "p.(Asp656Asn)" "" "0000508062" "00025432" "30" "1935" "0" "1935" "0" "c.1935A>G" "r.(?)" "p.(Leu645=)" "" "0000508064" "00025432" "10" "1632" "0" "1632" "0" "c.1632C>T" "r.(?)" "p.(Ala544=)" "" "0000508065" "00025432" "30" "1632" "0" "1632" "0" "c.1632C>T" "r.(?)" "p.(Ala544=)" "" "0000508066" "00025432" "30" "1631" "0" "1631" "0" "c.1631C>G" "r.(?)" "p.(Ala544Gly)" "" "0000508067" "00025432" "50" "1622" "0" "1622" "0" "c.1622C>T" "r.(?)" "p.(Pro541Leu)" "" "0000508068" "00025432" "10" "1611" "9" "1611" "9" "c.1611+9C>T" "r.(=)" "p.(=)" "" "0000508069" "00025432" "30" "1535" "0" "1535" "0" "c.1535G>A" "r.(?)" "p.(Arg512Gln)" "" "0000508070" "00025432" "10" "1490" "0" "1490" "0" "c.1490C>G" "r.(?)" "p.(Pro497Arg)" "" "0000508073" "00025432" "50" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(Lys424Arg)" "" "0000508075" "00025432" "50" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Arg300Gly)" "" "0000508078" "00025432" "50" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Phe91Leu)" "" "0000508079" "00025432" "50" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Phe91Leu)" "" "0000508080" "00025432" "30" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Phe91Leu)" "" "0000508081" "00025432" "30" "136" "-4" "136" "-4" "c.136-4del" "r.spl?" "p.?" "" "0000508082" "00025432" "30" "135" "7" "135" "7" "c.135+7A>G" "r.(=)" "p.(=)" "" "0000508083" "00025432" "30" "86" "0" "86" "0" "c.86C>T" "r.(?)" "p.(Thr29Met)" "" "0000508084" "00025432" "50" "25" "0" "25" "0" "c.25A>C" "r.(?)" "p.(Thr9Pro)" "" "0000508087" "00025432" "50" "-103405" "0" "-103404" "0" "c.-103405_-103404del" "r.(?)" "p.(=)" "" "0000605864" "00025432" "50" "3976" "0" "3976" "0" "c.3976C>T" "r.(?)" "p.(Arg1326Cys)" "" "0000605865" "00025432" "30" "3674" "0" "3674" "0" "c.3674C>T" "r.(?)" "p.(Thr1225Met)" "" "0000605866" "00025432" "50" "3352" "0" "3352" "0" "c.3352G>A" "r.(?)" "p.(Val1118Met)" "" "0000605867" "00025432" "50" "3292" "0" "3292" "0" "c.3292G>A" "r.(?)" "p.(Ala1098Thr)" "" "0000605868" "00025432" "30" "3252" "0" "3252" "0" "c.3252C>T" "r.(?)" "p.(Asn1084=)" "" "0000605869" "00025432" "30" "3175" "0" "3175" "0" "c.3175G>A" "r.(?)" "p.(Ala1059Thr)" "" "0000605870" "00025432" "50" "2965" "0" "2965" "0" "c.2965G>A" "r.(?)" "p.(Glu989Lys)" "" "0000605871" "00025432" "30" "2812" "0" "2812" "0" "c.2812G>A" "r.(?)" "p.(Val938Met)" "" "0000605872" "00025432" "10" "2305" "-20" "2305" "-20" "c.2305-20C>T" "r.(=)" "p.(=)" "" "0000605873" "00025432" "30" "2257" "0" "2257" "0" "c.2257G>A" "r.(?)" "p.(Asp753Asn)" "" "0000605874" "00025432" "30" "2115" "0" "2115" "0" "c.2115T>C" "r.(?)" "p.(Pro705=)" "" "0000605875" "00025432" "50" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(Lys424Arg)" "" "0000605876" "00025432" "50" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.(Glu399Gly)" "" "0000605877" "00025432" "30" "811" "-7" "811" "-7" "c.811-7C>T" "r.(=)" "p.(=)" "" "0000620678" "00025432" "50" "1306" "0" "1314" "0" "c.1306_1314dup" "r.(?)" "p.(Lys436_Val438dup)" "" "0000654077" "00025432" "30" "3645" "-15" "3645" "-15" "c.3645-15C>T" "r.(=)" "p.(=)" "" "0000654078" "00025432" "50" "3385" "0" "3385" "0" "c.3385G>A" "r.(?)" "p.(Val1129Met)" "" "0000654079" "00025432" "30" "3329" "0" "3329" "0" "c.3329C>T" "r.(?)" "p.(Ala1110Val)" "" "0000654080" "00025432" "30" "2492" "0" "2492" "0" "c.2492C>T" "r.(?)" "p.(Pro831Leu)" "" "0000654081" "00025432" "10" "2257" "0" "2257" "0" "c.2257G>A" "r.(?)" "p.(Asp753Asn)" "" "0000654082" "00025432" "90" "1956" "-1" "1956" "-1" "c.1956-1G>A" "r.spl?" "p.?" "" "0000654084" "00025432" "30" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Arg342Cys)" "" "0000667221" "00025432" "90" "3784" "0" "3784" "0" "c.3784A>T" "r.(?)" "p.(Arg1262*)" "" "0000667234" "00025432" "70" "673" "0" "673" "0" "c.673G>T" "r.(?)" "p.(Gly225Cys)" "" "0000675897" "00025432" "30" "4114" "0" "4114" "0" "c.4114C>T" "r.(?)" "p.(Leu1372=)" "" "0000675898" "00025432" "50" "3983" "0" "3983" "0" "c.3983C>T" "r.(?)" "p.(Pro1328Leu)" "" "0000675899" "00025432" "30" "3777" "0" "3777" "0" "c.3777G>A" "r.(?)" "p.(Arg1259=)" "" "0000675900" "00025432" "50" "3059" "0" "3059" "0" "c.3059G>T" "r.(?)" "p.(Ser1020Ile)" "" "0000675901" "00025432" "30" "2902" "0" "2902" "0" "c.2902G>A" "r.(?)" "p.(Ala968Thr)" "" "0000675902" "00025432" "50" "2882" "0" "2882" "0" "c.2882G>A" "r.(?)" "p.(Arg961His)" "" "0000675903" "00025432" "50" "2882" "0" "2882" "0" "c.2882G>A" "r.(?)" "p.(Arg961His)" "" "0000675904" "00025432" "30" "2349" "0" "2349" "0" "c.2349G>A" "r.(?)" "p.(Glu783=)" "" "0000675905" "00025432" "30" "1344" "0" "1344" "0" "c.1344G>A" "r.(?)" "p.(Ser448=)" "" "0000675906" "00025432" "30" "1257" "0" "1257" "0" "c.1257C>T" "r.(?)" "p.(His419=)" "" "0000685301" "00025432" "90" "2612" "0" "3315" "0" "c.2612_3315del" "r.?" "p.(Lys872Leufs*60)" "" "0000688214" "00025432" "50" "4000" "0" "4000" "0" "c.4000T>G" "r.(?)" "p.(Phe1334Val)" "" "0000688215" "00025432" "30" "3270" "0" "3270" "0" "c.3270C>T" "r.(?)" "p.(Ala1090=)" "" "0000688216" "00025432" "30" "3105" "0" "3105" "0" "c.3105G>A" "r.(?)" "p.(Pro1035=)" "" "0000688217" "00025432" "50" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Arg914Cys)" "" "0000688218" "00025432" "50" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Trp)" "" "0000688219" "00025432" "30" "2115" "0" "2115" "0" "c.2115T>C" "r.(?)" "p.(Pro705=)" "" "0000688220" "00025432" "30" "1923" "0" "1923" "0" "c.1923C>T" "r.(?)" "p.(Asn641=)" "" "0000688221" "00025432" "30" "1120" "-13" "1120" "-13" "c.1120-13G>T" "r.(=)" "p.(=)" "" "0000714079" "00025432" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Pro677Ser)" "" "0000714106" "00025432" "70" "2930" "0" "2930" "0" "c.2930C>T" "r.(?)" "p.(Thr977Met)" "" "0000717566" "00025432" "50" "3824" "0" "3824" "0" "c.3824C>T" "r.(?)" "p.(Pro1275Leu)" "" "0000717567" "00025432" "50" "3758" "0" "3758" "0" "c.3758G>A" "r.(?)" "p.(Arg1253Gln)" "" "0000717568" "00025432" "50" "3445" "0" "3445" "0" "c.3445C>T" "r.(?)" "p.(Arg1149Cys)" "" "0000717569" "00025432" "50" "3349" "0" "3349" "0" "c.3349G>A" "r.(?)" "p.(Ala1117Thr)" "" "0000717570" "00025432" "30" "2940" "0" "2940" "0" "c.2940G>A" "r.(?)" "p.(Thr980=)" "" "0000717571" "00025432" "30" "2892" "0" "2892" "0" "c.2892C>T" "r.(?)" "p.(Ala964=)" "" "0000717572" "00025432" "30" "2882" "0" "2882" "0" "c.2882G>A" "r.(?)" "p.(Arg961His)" "" "0000717573" "00025432" "30" "1811" "0" "1811" "0" "c.1811C>T" "r.(?)" "p.(Ser604Phe)" "" "0000717574" "00025432" "30" "1734" "0" "1734" "0" "c.1734C>T" "r.(?)" "p.(Ala578=)" "" "0000717575" "00025432" "50" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Thr315Met)" "" "0000717576" "00025432" "30" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Pro193Leu)" "" "0000717577" "00025432" "50" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Pro)" "" "0000717578" "00025432" "50" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Pro41Leu)" "" "0000736839" "00025432" "50" "1306" "0" "1314" "0" "c.1306_1314dup" "r.(?)" "p.(Lys436_Val438dup)" "" "0000760088" "00025432" "50" "3364" "0" "3364" "0" "c.3364A>C" "r.(?)" "p.(Thr1122Pro)" "" "0000786348" "00025432" "90" "3859" "0" "3859" "0" "c.3859C>G" "r.(?)" "p.(Gln1287Glu)" "" "0000786390" "00025432" "90" "3506" "0" "3506" "0" "c.3506del" "r.(?)" "p.(Pro1169GlnfsTer28)" "" "0000788351" "00025432" "50" "3526" "0" "3526" "0" "c.3526G>A" "r.(?)" "p.(Asp1176Asn)" "25" "0000791942" "00025432" "90" "3364" "0" "3364" "0" "c.3364A>C" "r.(?)" "p.(Thr1122Pro)" "" "0000791943" "00025432" "90" "305" "0" "305" "0" "c.305del" "r.(?)" "p.(Asn102Thrfs*76)" "" "0000791944" "00025432" "90" "3068" "0" "3068" "0" "c.3068G>A" "r.(?)" "p.(Trp1023*)" "" "0000791945" "00025432" "90" "3403" "0" "3403" "0" "c.3403del" "r.(?)" "p.(Arg1135Alafs*10)" "" "0000792000" "00025432" "90" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Phe91Leu)" "" "0000792001" "00025432" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000792201" "00025432" "50" "2618" "0" "2618" "0" "c.2618dup" "r.(?)" "p.(His873Glnfs*14)" "" "0000794741" "00025432" "70" "673" "0" "673" "0" "c.673G>T" "r.(?)" "p.(Gly225Cys)" "" "0000795042" "00025432" "90" "2876" "0" "2876" "0" "c.2876G>A" "r.(?)" "p.(Arg959Gln)" "" "0000796918" "00025432" "90" "111" "0" "111" "0" "c.111G>A" "r.(?)" "p.(Trp37*)" "" "0000796919" "00025432" "90" "3506" "0" "3506" "0" "c.3506del" "r.(?)" "p.(Pro1169Glnfs*28)" "" "0000799448" "00025432" "50" "4261" "0" "4261" "0" "c.4261G>A" "r.(?)" "p.(Val1421Met)" "" "0000799449" "00025432" "30" "4237" "0" "4237" "0" "c.4237G>A" "r.(?)" "p.(Asp1413Asn)" "" "0000799450" "00025432" "30" "4114" "0" "4114" "0" "c.4114C>T" "r.(?)" "p.(Leu1372=)" "" "0000799451" "00025432" "50" "4080" "0" "4080" "0" "c.4080G>T" "r.(?)" "p.(Arg1360Ser)" "" "0000799452" "00025432" "50" "3724" "0" "3724" "0" "c.3724G>A" "r.(?)" "p.(Ala1242Thr)" "" "0000799453" "00025432" "30" "3574" "0" "3574" "0" "c.3574C>T" "r.(?)" "p.(Arg1192Trp)" "" "0000799454" "00025432" "30" "3336" "0" "3336" "0" "c.3336T>C" "r.(?)" "p.(Gly1112=)" "" "0000799455" "00025432" "30" "3292" "0" "3292" "0" "c.3292G>A" "r.(?)" "p.(Ala1098Thr)" "" "0000799456" "00025432" "30" "3232" "-12" "3232" "-12" "c.3232-12C>T" "r.(=)" "p.(=)" "" "0000799457" "00025432" "50" "2965" "0" "2965" "0" "c.2965G>A" "r.(?)" "p.(Glu989Lys)" "" "0000799458" "00025432" "30" "2952" "0" "2952" "0" "c.2952G>A" "r.(?)" "p.(Thr984=)" "" "0000799459" "00025432" "50" "2951" "0" "2951" "0" "c.2951C>T" "r.(?)" "p.(Thr984Met)" "" "0000799460" "00025432" "50" "2327" "0" "2327" "0" "c.2327C>T" "r.(?)" "p.(Pro776Leu)" "" "0000799461" "00025432" "30" "2237" "0" "2237" "0" "c.2237C>G" "r.(?)" "p.(Thr746Ser)" "" "0000799462" "00025432" "30" "1812" "0" "1812" "0" "c.1812C>T" "r.(?)" "p.(Ser604=)" "" "0000799463" "00025432" "30" "1764" "-5" "1764" "-5" "c.1764-5C>T" "r.spl?" "p.?" "" "0000799464" "00025432" "50" "1440" "0" "1440" "0" "c.1440G>A" "r.(?)" "p.(Ser480=)" "" "0000799465" "00025432" "90" "517" "1" "517" "1" "c.517+1G>A" "r.spl?" "p.?" "" "0000799466" "00025432" "30" "7" "0" "7" "0" "c.7G>T" "r.(?)" "p.(Asp3Tyr)" "" "0000799468" "00025432" "50" "-103236" "0" "-103236" "0" "c.-103236A>G" "r.(?)" "p.(=)" "" "0000813986" "00025432" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814026" "00025432" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814027" "00025432" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814074" "00025432" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000815055" "00025432" "90" "992" "71" "992" "71" "c.992+71G>T" "r.spl?" "p.?" "" "0000822146" "00025432" "90" "2611" "75" "3315" "484" "c.2611+75_3315+484del" "r.spl?" "p.?" "" "0000822971" "00025432" "70" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Ser319Gly)" "" "0000823441" "00025432" "50" "3574" "0" "3574" "0" "c.3574C>T" "r.(?)" "p.(Arg1192Trp)" "" "0000823463" "00025432" "50" "2965" "0" "2965" "0" "c.2965G>A" "r.(?)" "p.(Glu989Lys)" "" "0000823543" "00025432" "50" "3146" "0" "3146" "0" "c.3146C>T" "r.(?)" "p.(Pro1049Leu)" "" "0000823558" "00025432" "50" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Trp)" "" "0000823561" "00025432" "50" "2951" "0" "2951" "0" "c.2951C>T" "r.(?)" "p.(Thr984Met)" "" "0000828547" "00025432" "70" "1774" "0" "1774" "0" "c.1774C>T" "r.(?)" "p.(Gln592*)" "" "0000831193" "00025432" "70" "1880" "0" "1880" "0" "c.1880C>T" "r.(?)" "p.(Thr627Met)" "" "0000834102" "00025432" "70" "3122" "0" "3122" "0" "c.3122del" "r.(?)" "p.(Phe1041SerfsTer42)" "22" "0000834103" "00025432" "70" "3626" "0" "3627" "0" "c.3626_3627delinsAA" "r.(?)" "p.(Phe1209Ter)" "26" "0000834161" "00025432" "70" "169" "0" "176" "0" "c.169_176del" "r.(?)" "p.(His57SerfsTer5)" "3" "0000834162" "00025432" "50" "2281" "0" "2281" "0" "c.2281G>A" "r.(?)" "p.(Gly761Arg)" "17" "0000845575" "00025432" "70" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Arg59Ter)" "" "0000845576" "00025432" "70" "2368" "0" "2368" "0" "c.2368G>T" "r.(?)" "p.(Glu790Ter)" "" "0000845577" "00025432" "70" "3010" "0" "3010" "0" "c.3010dupA" "r.(?)" "p.(Thr1004AsnfsTer99)" "" "0000845578" "00025432" "70" "3272" "0" "3272" "0" "c.3272dupT" "r.(?)" "p.(Ser1092ValfsTer11)" "" "0000845579" "00025432" "70" "3272" "0" "3272" "0" "c.3272dupT" "r.(?)" "p.(Ser1092ValfsTer11)" "" "0000845938" "00025432" "90" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Gly754Arg)" "" "0000848786" "00025432" "30" "3687" "0" "3687" "0" "c.3687C>T" "r.(?)" "p.(Tyr1229=)" "" "0000848787" "00025432" "50" "3181" "0" "3181" "0" "c.3181G>A" "r.(?)" "p.(Val1061Ile)" "" "0000848788" "00025432" "30" "3175" "0" "3175" "0" "c.3175G>A" "r.(?)" "p.(Ala1059Thr)" "" "0000848789" "00025432" "30" "2820" "0" "2820" "0" "c.2820G>A" "r.(?)" "p.(Ala940=)" "" "0000848790" "00025432" "10" "2808" "0" "2808" "0" "c.2808G>A" "r.(?)" "p.(Thr936=)" "" "0000848791" "00025432" "50" "2557" "0" "2557" "0" "c.2557G>T" "r.(?)" "p.(Asp853Tyr)" "" "0000848792" "00025432" "30" "2493" "0" "2493" "0" "c.2493G>C" "r.(?)" "p.(Pro831=)" "" "0000848793" "00025432" "10" "2293" "0" "2293" "0" "c.2293G>A" "r.(?)" "p.(Val765Ile)" "" "0000848794" "00025432" "50" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Arg674His)" "" "0000848795" "00025432" "10" "1705" "0" "1705" "0" "c.1705C>G" "r.(?)" "p.(Gln569Glu)" "" "0000848796" "00025432" "30" "1622" "0" "1622" "0" "c.1622C>T" "r.(?)" "p.(Pro541Leu)" "" "0000848797" "00025432" "30" "1442" "-7" "1442" "-7" "c.1442-7C>T" "r.(=)" "p.(=)" "" "0000848798" "00025432" "50" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Gly372Ser)" "" "0000848799" "00025432" "50" "878" "0" "878" "0" "c.878A>G" "r.(?)" "p.(Asn293Ser)" "" "0000848800" "00025432" "10" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "" "0000857559" "00025432" "50" "4052" "0" "4052" "0" "c.4052C>G" "r.(?)" "p.(Thr1351Ser)" "" "0000857560" "00025432" "10" "2681" "0" "2681" "0" "c.2681A>G" "r.(?)" "p.(His894Arg)" "" "0000857561" "00025432" "30" "2594" "0" "2594" "0" "c.2594C>T" "r.(?)" "p.(Thr865Met)" "" "0000857562" "00025432" "30" "2021" "0" "2021" "0" "c.2021G>T" "r.(?)" "p.(Arg674Leu)" "" "0000857563" "00025432" "30" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Gly372Ser)" "" "0000857564" "00025432" "30" "246" "0" "246" "0" "c.246G>T" "r.(?)" "p.(Thr82=)" "" "0000872777" "00025432" "50" "3292" "0" "3292" "0" "c.3292G>A" "r.(?)" "p.(Ala1098Thr)" "" "0000880409" "00025432" "90" "-38" "-1" "279" "1" "c.(-39+1_-38-1)_(279+1_280-1)del" "r.(?)" "p.?" "" "0000880410" "00025432" "90" "-38" "-1" "279" "1" "c.(-39+1_-38-1)_(279+1_280-1)del" "r.(?)" "p.?" "" "0000880411" "00025432" "90" "-38" "-1" "279" "1" "c.(-39+1_-38-1)_(279+1_280-1)del" "r.(?)" "p.?" "" "0000880412" "00025432" "90" "-38" "-1" "279" "1" "c.(-39+1_-38-1)_(279+1_280-1)del" "r.(?)" "p.?" "" "0000880413" "00025432" "90" "-38" "-1" "279" "1" "c.(-39+1_-38-1)_(279+1_280-1)del" "r.(?)" "p.?" "" "0000880414" "00025432" "90" "-38" "-1" "279" "1" "c.(-39+1_-38-1)_(279+1_280-1)del" "r.(?)" "p.?" "" "0000880424" "00025432" "70" "2144" "-1" "2144" "-1" "c.2144-1G>C" "r.spl" "p.?" "" "0000880425" "00025432" "70" "2144" "-1" "2144" "-1" "c.2144-1G>C" "r.spl" "p.?" "" "0000880430" "00025432" "50" "2051" "0" "2051" "0" "c.2051A>G" "r.(?)" "p.(Gln684Arg)" "" "0000880434" "00025432" "50" "2914" "0" "2914" "0" "c.2914A>G" "r.(?)" "p.(Ser972Gly)" "" "0000880435" "00025432" "50" "3181" "0" "3181" "0" "c.3181G>A" "r.(?)" "p.(Val1061Ile)" "" "0000880436" "00025432" "50" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Trp)" "" "0000880441" "00025432" "70" "1532" "0" "1532" "0" "c.1532C>T" "r.(?)" "p.(Pro511Leu)" "" "0000880442" "00025432" "70" "3364" "0" "3367" "0" "c.3364_3367delACTG" "r.(?)" "p.(Thr1122Trpfs*22)" "" "0000880444" "00025432" "70" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Gly754Arg)" "" "0000880446" "00025432" "70" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Gly754Arg)" "" "0000883525" "00025432" "30" "4179" "0" "4179" "0" "c.4179T>A" "r.(?)" "p.(Phe1393Leu)" "" "0000883526" "00025432" "30" "3036" "0" "3036" "0" "c.3036C>T" "r.(?)" "p.(Pro1012=)" "" "0000883527" "00025432" "30" "2868" "0" "2868" "0" "c.2868C>T" "r.(?)" "p.(Ala956=)" "" "0000883528" "00025432" "30" "2781" "0" "2781" "0" "c.2781C>T" "r.(?)" "p.(Ala927=)" "" "0000883529" "00025432" "30" "2612" "-4" "2612" "-4" "c.2612-4G>A" "r.spl?" "p.?" "" "0000883530" "00025432" "30" "2487" "0" "2487" "0" "c.2487T>C" "r.(?)" "p.(Gly829=)" "" "0000883531" "00025432" "10" "1542" "0" "1542" "0" "c.1542G>A" "r.(?)" "p.(Pro514=)" "" "0000883532" "00025432" "30" "1302" "13" "1302" "13" "c.1302+13G>C" "r.(=)" "p.(=)" "" "0000883533" "00025432" "90" "1271" "0" "1271" "0" "c.1271del" "r.(?)" "p.(Lys424Argfs*7)" "" "0000883534" "00025432" "30" "279" "6" "279" "6" "c.279+6C>T" "r.(=)" "p.(=)" "" "0000911103" "00025432" "10" "3674" "0" "3674" "0" "c.3674C>T" "r.(?)" "p.(Thr1225Met)" "" "0000911104" "00025432" "30" "3168" "0" "3168" "0" "c.3168C>T" "r.(?)" "p.(His1056=)" "" "0000911105" "00025432" "30" "3044" "20" "3044" "20" "c.3044+20C>T" "r.(=)" "p.(=)" "" "0000911106" "00025432" "30" "2892" "0" "2892" "0" "c.2892C>T" "r.(?)" "p.(Ala964=)" "" "0000911107" "00025432" "30" "1503" "19" "1503" "19" "c.1503+19C>T" "r.(=)" "p.(=)" "" "0000911108" "00025432" "30" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Gly225=)" "" "0000923215" "00025432" "30" "3911" "0" "3911" "0" "c.3911A>G" "r.(?)" "p.(His1304Arg)" "" "0000923216" "00025432" "70" "3644" "1" "3644" "1" "c.3644+1G>A" "r.spl?" "p.?" "" "0000923217" "00025432" "30" "810" "14" "810" "14" "c.810+14A>C" "r.(=)" "p.(=)" "" "0000928195" "00025432" "30" "3645" "-15" "3645" "-15" "c.3645-15C>T" "r.(=)" "p.(=)" "" "0000928196" "00025432" "50" "3518" "0" "3518" "0" "c.3518G>A" "r.(?)" "p.(Arg1173His)" "" "0000928197" "00025432" "50" "3231" "5" "3231" "5" "c.3231+5G>A" "r.spl?" "p.?" "" "0000928198" "00025432" "30" "2902" "0" "2902" "0" "c.2902G>A" "r.(?)" "p.(Ala968Thr)" "" "0000928199" "00025432" "30" "2250" "0" "2250" "0" "c.2250C>T" "r.(?)" "p.(=)" "" "0000928200" "00025432" "30" "2031" "0" "2031" "0" "c.2031C>T" "r.(?)" "p.(Pro677=)" "" "0000928201" "00025432" "30" "136" "-4" "136" "-4" "c.136-4del" "r.spl?" "p.?" "" "0000947278" "00025432" "10" "2219" "0" "2219" "0" "c.2219G>A" "r.(?)" "p.(Arg740His)" "" "0000947279" "00025432" "30" "2021" "0" "2021" "0" "c.2021G>T" "r.(?)" "p.(Arg674Leu)" "" "0000961107" "00025432" "10" "3674" "0" "3674" "0" "c.3674C>T" "r.(?)" "p.(Thr1225Met)" "" "0000961110" "00025432" "30" "1440" "0" "1440" "0" "c.1440G>A" "r.(?)" "p.(Ser480=)" "" "0000961112" "00025432" "30" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Thr315Met)" "" "0000972434" "00025432" "90" "2198" "0" "2198" "0" "c.2198G>A" "r.(?)" "p.(Gly733Asp)" "" "0000972458" "00025432" "90" "2717" "0" "2717" "0" "c.2717G>A" "r.(?)" "p.(Arg906His)" "" "0000974039" "00025432" "50" "3854" "0" "3854" "0" "c.3854G>A" "r.(?)" "p.(Gly1285Glu)" "" "0000974040" "00025432" "50" "3181" "0" "3181" "0" "c.3181G>A" "r.(?)" "p.(Val1061Ile)" "" "0000974041" "00025432" "50" "2846" "0" "2846" "0" "c.2846T>C" "r.(?)" "p.(Leu949Ser)" "" "0000974042" "00025432" "50" "2629" "0" "2629" "0" "c.2629G>A" "r.(?)" "p.(Ala877Thr)" "" "0000974043" "00025432" "50" "2611" "516" "2611" "516" "c.2611+516A>T" "r.(=)" "p.(=)" "" "0000974044" "00025432" "50" "2275" "0" "2275" "0" "c.2275C>T" "r.(?)" "p.(Leu759Phe)" "" "0000974045" "00025432" "50" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Val744Met)" "" "0000974046" "00025432" "50" "1937" "0" "1937" "0" "c.1937A>C" "r.(?)" "p.(Gln646Pro)" "" "0000974047" "00025432" "30" "1812" "0" "1812" "0" "c.1812C>T" "r.(?)" "p.(Ser604=)" "" "0000974048" "00025432" "50" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Arg316Cys)" "" "0000974049" "00025432" "30" "673" "9" "673" "9" "c.673+9G>A" "r.(=)" "p.(=)" "" "0000974050" "00025432" "50" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153Trp)" "" "0000974051" "00025432" "50" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153Trp)" "" "0000974052" "00025432" "50" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Phe91Leu)" "" "0000974053" "00025432" "30" "-106282" "0" "-106282" "0" "c.-106282G>A" "r.(?)" "p.(=)" "" "0000991353" "00025432" "50" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288Cys)" "" "0000991360" "00025432" "30" "268" "0" "268" "0" "c.268G>C" "r.(?)" "p.(Val90Leu)" "" "0000991361" "00025432" "30" "-59453" "0" "-59453" "0" "c.-59453C>T" "r.(?)" "p.(=)" "" "0000991362" "00025432" "10" "-59492" "0" "-59492" "0" "c.-59492C>T" "r.(?)" "p.(=)" "" "0000991363" "00025432" "10" "-59559" "0" "-59559" "0" "c.-59559C>T" "r.(?)" "p.(=)" "" "0000991364" "00025432" "10" "-90043" "0" "-90043" "0" "c.-90043A>G" "r.(?)" "p.(=)" "" "0000991365" "00025432" "10" "-96788" "0" "-96788" "0" "c.-96788G>A" "r.(?)" "p.(=)" "" "0000991366" "00025432" "10" "-96857" "0" "-96857" "0" "c.-96857C>T" "r.(?)" "p.(=)" "" "0000991367" "00025432" "50" "-98243" "0" "-98243" "0" "c.-98243G>A" "r.(?)" "p.(=)" "" "0000991370" "00025432" "10" "-105169" "0" "-105169" "0" "c.-105169G>A" "r.(?)" "p.(=)" "" "0000991371" "00025432" "10" "-106297" "0" "-106297" "0" "c.-106297T>C" "r.(?)" "p.(=)" "" "0001013335" "00025432" "10" "-59456" "0" "-59456" "0" "c.-59456G>A" "r.(?)" "p.(=)" "" "0001013336" "00025432" "10" "-98166" "0" "-98166" "0" "c.-98166G>C" "r.(?)" "p.(=)" "" "0001024188" "00025432" "30" "3479" "0" "3479" "0" "c.3479C>T" "r.(?)" "p.(Pro1160Leu)" "" "0001024189" "00025432" "70" "3364" "0" "3364" "0" "c.3364A>C" "r.(?)" "p.(Thr1122Pro)" "" "0001024190" "00025432" "30" "2458" "0" "2458" "0" "c.2458C>T" "r.(?)" "p.(Arg820Trp)" "" "0001024191" "00025432" "70" "12" "0" "12" "0" "c.12G>A" "r.(?)" "p.(Trp4*)" "" "0001024192" "00025432" "10" "-59424" "0" "-59424" "0" "c.-59424C>T" "r.(?)" "p.(=)" "" "0001024193" "00025432" "30" "-59452" "0" "-59452" "0" "c.-59452G>A" "r.(?)" "p.(=)" "" "0001024194" "00025432" "10" "-93008" "0" "-93008" "0" "c.-93008C>T" "r.(?)" "p.(=)" "" "0001024196" "00025432" "50" "-106378" "0" "-106378" "0" "c.-106378G>A" "r.(?)" "p.(=)" "" "0001030942" "00025432" "90" "2999" "0" "3005" "0" "c.2999_3005del" "r.(2999_3005del)" "p.(Asn1000SerfsTer4)" "" "0001030943" "00025432" "90" "2999" "0" "3005" "0" "c.2999_3005del" "r.(2999_3005del)" "p.(Asn1000SerfsTer4)" "" "0001032130" "00025432" "30" "3876" "0" "3876" "0" "c.3876C>T" "r.(?)" "p.(Gly1292=)" "" "0001032131" "00025432" "50" "2723" "0" "2723" "0" "c.2723C>T" "r.(?)" "p.(Ser908Leu)" "" "0001032132" "00025432" "50" "2642" "0" "2642" "0" "c.2642C>T" "r.(?)" "p.(Ala881Val)" "" "0001032133" "00025432" "50" "2358" "0" "2360" "0" "c.2358_2360del" "r.(?)" "p.(Val787del)" "" "0001032134" "00025432" "50" "1880" "0" "1880" "0" "c.1880C>T" "r.(?)" "p.(Thr627Met)" "" "0001032135" "00025432" "50" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(Lys424Arg)" "" "0001032137" "00025432" "10" "-90064" "0" "-90064" "0" "c.-90064G>A" "r.(?)" "p.(=)" "" "0001032138" "00025432" "10" "-90081" "0" "-90077" "0" "c.-90081_-90077del" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 88 "{{screeningid}}" "{{variantid}}" "0000000014" "0000000119" "0000000024" "0000000124" "0000000039" "0000000125" "0000000041" "0000000122" "0000000042" "0000000123" "0000000049" "0000000121" "0000000075" "0000000120" "0000001624" "0000019537" "0000001624" "0000019538" "0000033238" "0000059950" "0000033238" "0000059951" "0000081489" "0000000119" "0000081492" "0000000122" "0000156371" "0000358293" "0000290574" "0000000124" "0000303825" "0000667221" "0000303838" "0000667234" "0000310390" "0000685301" "0000329722" "0000714079" "0000329722" "0000714106" "0000337209" "0000736839" "0000360214" "0000760088" "0000375081" "0000786348" "0000375081" "0000786390" "0000376623" "0000788351" "0000378952" "0000791942" "0000378952" "0000791943" "0000378953" "0000791944" "0000378953" "0000791945" "0000378983" "0000792000" "0000378984" "0000792001" "0000379119" "0000792201" "0000381340" "0000794741" "0000381572" "0000795042" "0000382944" "0000796918" "0000382944" "0000796919" "0000386460" "0000813986" "0000386483" "0000814026" "0000386484" "0000814027" "0000386514" "0000814074" "0000387177" "0000815055" "0000392052" "0000822146" "0000392628" "0000822971" "0000392971" "0000823441" "0000392971" "0000823543" "0000392993" "0000823463" "0000392993" "0000823558" "0000392993" "0000823561" "0000396849" "0000828547" "0000398899" "0000831193" "0000399774" "0000000119" "0000399775" "0000000120" "0000399776" "0000000121" "0000399777" "0000000122" "0000399778" "0000000123" "0000399779" "0000000124" "0000399780" "0000000125" "0000401059" "0000834102" "0000401059" "0000834161" "0000401060" "0000834103" "0000401060" "0000834162" "0000408626" "0000845575" "0000408627" "0000845576" "0000408628" "0000845577" "0000408629" "0000845578" "0000408630" "0000845579" "0000408925" "0000845938" "0000415039" "0000872777" "0000420112" "0000880409" "0000420113" "0000880410" "0000420114" "0000880411" "0000420115" "0000880412" "0000420116" "0000880413" "0000420117" "0000880414" "0000420122" "0000880441" "0000420124" "0000880442" "0000420125" "0000880424" "0000420125" "0000880444" "0000420126" "0000880425" "0000420126" "0000880446" "0000420131" "0000880430" "0000420135" "0000880434" "0000420136" "0000880435" "0000420137" "0000880436" "0000450456" "0000972434" "0000450456" "0000972458" "0000466900" "0001030942" "0000466901" "0001030943"