### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NBAS) # 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}}" "NBAS" "neuroblastoma amplified sequence" "2" "p24.3" "unknown" "NG_032964.1" "UD_134753525022" "" "https://www.LOVD.nl/NBAS" "" "1" "15625" "51594" "608025" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/NBAS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-07-24 21:38:45" "00000" "2026-01-20 18:57:21" ## 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}}" "00014309" "NBAS" "transcript variant 1" "002" "NM_015909.3" "" "NP_056993.2" "" "" "" "-44" "7256" "7116" "15701472" "15307032" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "00833" "MRXSC" "Mental retardation, X-linked, syndromic 15 (Cabezas type)" "XLR" "300354" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03239" "LFIT" "failure, liver, transient, infantile (LFIT)" "AR" "613070" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03727" "SOPH" "stature, short, optic nerve atrophy, and pelger-huet anomaly (SOPH)" "AR" "614800" "" "" "" "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" "04250" "-" "retinal degeneration" "" "" "" "" "" "00006" "2015-05-04 22:12:01" "" "" "04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50" "05311" "LFIT2" "failure, liver, transient, infantile, type 2 (LFIT-2)" "AR" "616483" "" "" "" "00006" "2017-07-24 21:31:03" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NBAS" "03727" "NBAS" "05311" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00074518" "" "" "" "1" "" "01604" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}, {PMID:Yepez 2022:35379322}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Germany" ">18y" "0" "" "" "" "Fam1PatII1;R70186" "00074521" "" "" "" "1" "" "01604" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Germany" ">22y" "0" "" "" "" "" "00074522" "" "" "" "1" "" "01604" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "2-generation family, 1 affecteds, unaffected heterozygous carrier parents" "F" "" "Germany" ">18y" "0" "" "" "" "" "00074523" "" "" "" "1" "" "01604" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "2-generation family, 1 affecteds, unaffected heterozygous carrier parents" "F" "" "Germany" ">37y" "0" "" "" "" "" "00074524" "" "" "" "1" "" "01604" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}, {PMID:Yepez 2022:35379322}" "2-generation family, 1 affecteds, unaffected heterozygous carrier parents" "M" "" "Germany" ">14y" "0" "" "" "" "Fam5PatII2;R29620" "00074525" "" "" "" "1" "" "01604" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "2-generation family, 5 affecteds, unaffected heterozygous carrier parents" "M" "" "" ">03y" "0" "" "" "" "" "00074526" "" "" "" "2" "" "01604" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents, PatII1" "F" "" "" ">09y" "0" "" "" "" "" "00074527" "" "" "00074526" "1" "" "01604" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "sister II2" "F" "" "" ">11y" "0" "" "" "" "" "00074528" "" "" "" "1" "" "01604" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" ">08y" "0" "" "" "" "" "00074529" "" "" "" "1" "" "01604" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents, older siblings died in early infancy\r\ndue to acute liver failure." "F" "" "" ">04y" "0" "" "" "" "" "00074530" "" "" "" "1" "" "01604" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "2-generation family, 1 affecteds, unaffected heterozygous carrier parents" "F" "" "" ">18y" "0" "" "" "" "" "00144431" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00271297" "" "" "" "1" "" "02284" "Ritelli et al., 2020 submitted" "" "M" "no" "Italy" "" "0" "" "" "" "ED2150" "00273167" "" "" "" "1" "" "02061" "" "" "F" "" "Saudi Arabia" "" "0" "" "" "Arab" "" "00301665" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00328847" "" "" "" "1" "" "00000" "{PMID:Katagiri 2017:29681726}" "" "F" "" "Japan" "" "0" "" "" "" "JU#1303" "00358953" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case70052" "00358965" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case13730" "00358966" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case30421" "00362239" "" "" "" "1" "" "04043" "Fadaie 2021, submitted" "" "" "no" "Netherlands" "" "0" "" "" "" "?" "00379536" "" "" "" "1" "" "03508" "" "" "M" "" "" "" "0" "" "" "" "IR_SH_0059" "00414792" "" "" "" "2" "" "04076" "{PMID:Priglinger 2022:36479642}, {DOI:Priglinger 2022:10.1002/mgg3.2120}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Greece" "" "0" "" "" "" "patient" "00427977" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A026" "00447523" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "CD-615-1" "00447524" "" "" "00447523" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "CD-615-2" "00461176" "" "" "" "2" "" "00006" "{PMID:Zheng 2024:39423307}" "family, 2 affected" "M" "" "China" "" "0" "" "" "" "F035P036II-2" "00461177" "" "" "00461176" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "relative" "F" "" "China" "" "0" "" "" "" "F035P037II-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00074518" "03239" "00074521" "03239" "00074522" "03239" "00074523" "03239" "00074524" "03239" "00074525" "03239" "00074526" "03239" "00074527" "03239" "00074528" "03239" "00074529" "03239" "00074530" "03239" "00144431" "00198" "00271297" "00833" "00271297" "03727" "00271297" "05311" "00273167" "00291" "00301665" "00198" "00328847" "04214" "00358953" "04214" "00358965" "04214" "00358966" "04214" "00362239" "04214" "00379536" "00381" "00414792" "04250" "00427977" "00198" "00447523" "00198" "00447524" "00198" "00461176" "04293" "00461177" "04293" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00291, 00381, 00833, 01157, 03239, 03727, 04214, 04250, 04293, 05311 ## Count = 27 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054310" "03239" "00074518" "01604" "Familial, autosomal recessive" "18y" "acute liver failure (HP:0006554)" "00y21m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054313" "03239" "00074521" "01604" "Familial, autosomal recessive" "22y" "acute liver failure (HP:0006554), acute renal failure (HP:0001919), epilepsy (HP:0001250)" "00y07m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054314" "03239" "00074522" "01604" "Familial, autosomal recessive" "18y" "acute liver failure (HP:0006554), celiac disease (HP:0002608)" "00y10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054315" "03239" "00074523" "01604" "Familial, autosomal recessive" "37y" "acute liver failure (HP:0006554)" "00y08m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054316" "03239" "00074524" "01604" "Familial, autosomal recessive" "14y" "acute liver failure (HP:0006554), cardiomyopathy (HP:0001638)" "00y07m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054317" "03239" "00074525" "01604" "Familial, autosomal recessive" "03y" "acute liver failure (HP:0006554)" "00y18m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054318" "03239" "00074526" "01604" "Familial, autosomal recessive" "09y" "acute liver failure (HP:0006554)" "00y11m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054319" "03239" "00074527" "01604" "Familial, autosomal recessive" "11y" "acute liver failure (HP:0006554), erythema nodosum (HP:0012219), Crohn’s disease (HP:0100280)" "06y08m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054320" "03239" "00074528" "01604" "Familial, autosomal recessive" "08y" "acute liver failure (HP:0006554)" "00y21m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054321" "03239" "00074529" "01604" "Familial, autosomal recessive" "04y" "acute liver failure (HP:0006554)" "00y18m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054322" "03239" "00074530" "01604" "Familial, autosomal recessive" "18y" "acute liver failure (HP:0006554)" "00y04m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000117199" "00198" "00144431" "01807" "Unknown" "" "Decreased liver function (HP:0001410); Growth delay (HP:0001510); Large fontanelles (HP:0000239)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000207910" "03727" "00271297" "02284" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228766" "00198" "00301665" "01807" "Unknown" "" "Cone/cone-rod dystrophy (HP:0000548); Cone dystrophy (HP:0008020)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247051" "04214" "00328847" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "" "0000254251" "04214" "00358953" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000254263" "04214" "00358965" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000254264" "04214" "00358966" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" "" "" "0000257653" "04214" "00362239" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000273576" "00381" "00379536" "03508" "Familial, autosomal recessive" "" "HP:0000662, HP:0000613, HP:0001129, HP:0003745, HP:0000648, HP:0004322, HP:0000548, HP:0005328" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000306592" "04250" "00414792" "04076" "Familial, autosomal recessive" "" "see paper; ..., isolated cone dysfunction, bilateral optic atrophy, Pelger-Huët anomaly, no short stature, no recurrent acute liver failure, no susceptibility to infections" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000318923" "00198" "00427977" "00006" "Familial, autosomal recessive" "8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336722" "00198" "00447523" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "" "0000336723" "00198" "00447524" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "" "0000348676" "04293" "00461176" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., congenital onset; best corrected visual acuity (first visit) OD finger count/OS 0.05; fundus oculi (first visit) OD diffuse pale optic disc, ARV/OS diffuse pale optic disc, ARV;" "infant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348677" "04293" "00461177" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., congenital onset; best corrected visual acuity (first visit) OD 0.01/OS 0.1; fundus oculi (first visit) OD diffuse pale optic disc, TD/OS diffuse pale optic disc,tapetoretinal degeneration;" "infant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000074682" "00074518" "1" "01604" "01604" "2016-07-06 12:33:02" "" "" "SEQ" "DNA" "" "" "0000074685" "00074521" "1" "01604" "01604" "2016-07-06 14:07:55" "" "" "SEQ" "DNA" "" "" "0000074686" "00074522" "1" "01604" "01604" "2016-07-06 14:17:56" "" "" "SEQ" "DNA" "" "" "0000074687" "00074523" "1" "01604" "01604" "2016-07-06 14:24:56" "" "" "SEQ" "DNA" "" "" "0000074688" "00074524" "1" "01604" "01604" "2016-07-06 14:29:03" "00006" "2023-02-07 21:14:40" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000074689" "00074525" "1" "01604" "01604" "2016-07-06 14:33:16" "" "" "SEQ" "DNA" "" "" "0000074690" "00074526" "1" "01604" "01604" "2016-07-06 14:39:32" "" "" "SEQ" "DNA" "" "" "0000074691" "00074527" "1" "01604" "01604" "2016-07-06 14:44:57" "" "" "SEQ" "DNA" "" "" "0000074692" "00074528" "1" "01604" "01604" "2016-07-06 14:48:54" "" "" "SEQ" "DNA" "" "" "0000074693" "00074529" "1" "01604" "01604" "2016-07-06 14:54:57" "" "" "SEQ" "DNA" "" "" "0000074694" "00074530" "1" "01604" "01604" "2016-07-06 14:58:20" "" "" "SEQ" "DNA" "" "" "0000145289" "00144431" "0" "01807" "01807" "2017-12-13 15:17:58" "" "" "SEQ" "DNA" "" "" "0000272450" "00271297" "1" "02284" "02284" "2019-12-17 16:18:13" "" "" "SEQ-NG-IT" "DNA" "Blood" "whole exome sequencing" "0000274321" "00273167" "1" "02061" "02061" "2019-12-20 17:49:43" "00006" "2019-12-23 13:18:43" "SEQ-NG-IT" "DNA" "" "" "0000302790" "00301665" "1" "01807" "01807" "2020-05-20 08:48:01" "" "" "SEQ" "DNA" "" "" "0000330063" "00328847" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360190" "00358953" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360202" "00358965" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360203" "00358966" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000363468" "00362239" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" "" "0000380736" "00379536" "1" "03508" "03508" "2021-08-05 08:00:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000416073" "00414792" "1" "04076" "04076" "2022-08-05 08:57:12" "00006" "2022-12-23 14:38:10" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "" "WGS" "0000429390" "00427977" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "fibroblasts" "singleton WES" "0000449100" "00447523" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449101" "00447524" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000462808" "00461176" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462809" "00461177" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000074682" "NBAS" "0000074685" "NBAS" "0000074686" "NBAS" "0000074687" "NBAS" "0000074688" "NBAS" "0000074689" "NBAS" "0000074690" "NBAS" "0000074691" "NBAS" "0000074692" "NBAS" "0000074693" "NBAS" "0000074694" "NBAS" "0000272450" "CUL4B" "0000272450" "NBAS" "0000330063" "RPE65" "0000363468" "NBAS" "0000363468" "TTLL5" ## 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 = 319 "{{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}}" "0000011588" "3" "50" "2" "15537429" "15537429" "subst" "0" "00037" "NBAS_000001" "g.15537429G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15397305G>A" "" "VUS" "" "0000011589" "3" "50" "2" "15537641" "15537641" "subst" "0" "00037" "NBAS_000002" "g.15537641T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15397517T>C" "" "VUS" "" "0000011590" "3" "50" "2" "15537863" "15537863" "subst" "0" "00037" "NBAS_000003" "g.15537863T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15397739T>C" "" "VUS" "" "0000011591" "3" "50" "2" "15537866" "15537866" "subst" "0" "00037" "NBAS_000004" "g.15537866C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15397742C>A" "" "VUS" "" "0000011592" "3" "50" "2" "15537915" "15537915" "subst" "0" "00037" "NBAS_000005" "g.15537915C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15397791C>T" "" "VUS" "" "0000011593" "3" "50" "2" "15537924" "15537924" "subst" "0" "00037" "NBAS_000006" "g.15537924G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15397800G>C" "" "VUS" "" "0000011594" "3" "50" "2" "15537931" "15537931" "subst" "0" "00037" "NBAS_000007" "g.15537931G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15397807G>C" "" "VUS" "" "0000119724" "21" "90" "2" "15676630" "15676632" "del" "0" "01604" "NBAS_000021" "g.15676630_15676632del" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15536506_15536508del" "" "pathogenic" "" "0000119725" "11" "90" "2" "15674729" "15674729" "dup" "0" "01604" "NBAS_000019" "g.15674729dup" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15534605dup" "" "pathogenic" "" "0000119730" "3" "90" "2" "15557706" "15557706" "subst" "4.06597E-6" "01604" "NBAS_000012" "g.15557706A>C" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15417582A>C" "" "pathogenic" "" "0000119731" "21" "90" "2" "15676586" "15676588" "del" "0" "01604" "NBAS_000020" "g.15676586_15676588del" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15536462_15536464del" "" "pathogenic" "" "0000119732" "11" "90" "2" "15534444" "15534444" "subst" "0" "01604" "NBAS_000008" "g.15534444A>G" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15394320A>G" "" "pathogenic" "" "0000119733" "11" "90" "2" "15557706" "15557706" "subst" "4.06597E-6" "01604" "NBAS_000012" "g.15557706A>C" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15417582A>C" "" "pathogenic" "" "0000119734" "20" "90" "2" "15555780" "15555780" "subst" "6.90467E-5" "01604" "NBAS_000011" "g.15555780C>A" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15415656C>A" "" "pathogenic" "" "0000119735" "21" "90" "2" "15542353" "15542353" "subst" "1.21995E-5" "01604" "NBAS_000009" "g.15542353G>A" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}, {PMID:Yepez 2022:35379322}" "" "" "mono-allelic expression" "Germline" "" "" "0" "" "" "g.15402229G>A" "" "pathogenic (recessive)" "" "0000119736" "11" "90" "2" "15534444" "15534444" "subst" "0" "01604" "NBAS_000008" "g.15534444A>G" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15394320A>G" "" "pathogenic" "" "0000119737" "21" "90" "2" "15614248" "15614260" "del" "0" "01604" "NBAS_000016" "g.15614248_15614260del" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15474124_15474136del" "" "pathogenic" "" "0000119738" "11" "90" "2" "15542412" "15542412" "subst" "1.22049E-5" "01604" "NBAS_000010" "g.15542412A>C" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15402288A>C" "" "pathogenic" "" "0000119739" "11" "90" "2" "15629059" "15629059" "subst" "0" "01604" "NBAS_000018" "g.15629059G>A" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15488935G>A" "" "pathogenic" "" "0000119740" "21" "90" "2" "15601464" "15601464" "subst" "4.0661E-6" "01604" "NBAS_000015" "g.15601464G>C" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15461340G>C" "" "pathogenic" "" "0000119741" "11" "90" "2" "15629059" "15629059" "subst" "0" "01604" "NBAS_000018" "g.15629059G>A" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15488935G>A" "" "pathogenic" "" "0000119742" "21" "90" "2" "15601464" "15601464" "subst" "4.0661E-6" "01604" "NBAS_000015" "g.15601464G>C" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15461340G>C" "" "pathogenic" "" "0000119743" "10" "90" "2" "15615965" "15615965" "subst" "0" "01604" "NBAS_000017" "g.15615965C>T" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15475841C>T" "" "pathogenic" "" "0000119744" "21" "90" "2" "15601334" "15601334" "subst" "0" "01604" "NBAS_000014" "g.15601334G>T" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15461210G>T" "" "pathogenic" "" "0000119745" "1" "90" "2" "15698760" "15698760" "subst" "0" "01604" "NBAS_000022" "g.15698760T>C" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15558636T>C" "" "pathogenic" "" "0000119746" "2" "90" "2" "15564492" "15564492" "subst" "8.12526E-6" "01604" "NBAS_000013" "g.15564492C>A" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15424368C>A" "" "pathogenic" "" "0000119747" "1" "90" "2" "15674729" "15674729" "dup" "0" "01604" "NBAS_000019" "g.15674729dup" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15534605dup" "" "pathogenic" "" "0000119748" "2" "90" "2" "15534444" "15534444" "subst" "0" "01604" "NBAS_000008" "g.15534444A>G" "" "{PMID:Haack 2015:26073778}, {DOI:Haack 2015:10.1016/j.ajhg.2015.05.009}" "" "" "" "Germline" "" "" "0" "" "" "g.15394320A>G" "" "pathogenic" "" "0000236388" "0" "90" "2" "15542418" "15542418" "del" "0" "01807" "NBAS_000024" "g.15542418del" "" "" "" "2950delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15402294del" "" "pathogenic" "" "0000236389" "0" "50" "2" "15534450" "15534450" "subst" "8.14551E-6" "01807" "NBAS_000023" "g.15534450T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.15394326T>C" "" "VUS" "" "0000248497" "0" "10" "2" "15615910" "15615910" "subst" "0.590641" "02325" "NBAS_000031" "g.15615910A>G" "" "" "" "NBAS(NM_015909.4):c.1242T>C (p.S414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15475786A>G" "" "benign" "" "0000296311" "0" "10" "2" "15618339" "15618339" "subst" "0.603768" "02325" "NBAS_000033" "g.15618339G>A" "" "" "" "NBAS(NM_015909.4):c.1147+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15478215G>A" "" "benign" "" "0000296312" "0" "10" "2" "15616013" "15616013" "subst" "0.589675" "02325" "NBAS_000032" "g.15616013C>G" "" "" "" "NBAS(NM_015909.4):c.1148-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15475889C>G" "" "benign" "" "0000296313" "0" "10" "2" "15614404" "15614404" "subst" "0.60261" "02325" "NBAS_000030" "g.15614404T>C" "" "" "" "NBAS(NM_015909.4):c.1386A>G (p.R462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15474280T>C" "" "benign" "" "0000296314" "0" "10" "2" "15601441" "15601441" "subst" "0.604722" "02325" "NBAS_000029" "g.15601441C>T" "" "" "" "NBAS(NM_015909.4):c.2223G>A (p.L741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15461317C>T" "" "benign" "" "0000296316" "0" "10" "2" "15676686" "15676686" "subst" "0.607495" "02325" "NBAS_000036" "g.15676686G>A" "" "" "" "NBAS(NM_015909.4):c.514-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15536562G>A" "" "benign" "" "0000296318" "0" "10" "2" "15372562" "15372562" "subst" "0.0838461" "02325" "NBAS_000025" "g.15372562C>T" "" "" "" "NBAS(NM_015909.4):c.6220G>A (p.A2074T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15232438C>T" "" "benign" "" "0000296319" "0" "10" "2" "15674686" "15674686" "subst" "0.561277" "02325" "NBAS_000035" "g.15674686T>C" "" "" "" "NBAS(NM_015909.4):c.727A>G (p.I243V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15534562T>C" "" "benign" "" "0000298520" "0" "90" "2" "15629067" "15629067" "subst" "0" "02329" "NBAS_000034" "g.15629067C>T" "" "" "" "NBAS(NM_015909.4):c.1034G>A (p.W345*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15488943C>T" "" "pathogenic" "" "0000509653" "0" "70" "2" "15319112" "15319112" "subst" "4.06534E-6" "02327" "NBAS_000038" "g.15319112C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15178988C>T" "" "likely pathogenic" "" "0000509654" "0" "10" "2" "15319147" "15319147" "subst" "0.00171021" "01943" "NBAS_000039" "g.15319147C>T" "" "" "" "NBAS(NM_015909.3):c.6805G>A (p.E2269K), NBAS(NM_015909.4):c.6805G>A (p.E2269K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15179023C>T" "" "benign" "" "0000509661" "0" "30" "2" "15378727" "15378727" "subst" "0.000642376" "01943" "NBAS_000040" "g.15378727G>A" "" "" "" "NBAS(NM_015909.3):c.5808C>T (p.N1936=), NBAS(NM_015909.4):c.5808C>T (p.N1936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15238603G>A" "" "likely benign" "" "0000509662" "0" "30" "2" "15378808" "15378808" "subst" "0.0459584" "01804" "NBAS_000041" "g.15378808C>G" "" "" "" "NBAS(NM_015909.3):c.5727G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15238684C>G" "" "likely benign" "" "0000509663" "0" "10" "2" "15378825" "15378826" "ins" "0" "02325" "NBAS_000042" "g.15378825_15378826insTAAT" "" "" "" "NBAS(NM_015909.4):c.5725-13_5725-12insAATT, NBAS(NM_015909.4):c.5725-16_5725-15insATTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15238701_15238702insTAAT" "" "benign" "" "0000509664" "0" "50" "2" "15415865" "15415865" "subst" "0.000439385" "01943" "NBAS_000043" "g.15415865T>A" "" "" "" "NBAS(NM_015909.3):c.5467A>T (p.I1823F, p.(Ile1823Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15275741T>A" "" "VUS" "" "0000509665" "0" "50" "2" "15415865" "15415865" "subst" "0.000439385" "01804" "NBAS_000043" "g.15415865T>A" "" "" "" "NBAS(NM_015909.3):c.5467A>T (p.I1823F, p.(Ile1823Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15275741T>A" "" "VUS" "" "0000509666" "0" "50" "2" "15415867" "15415867" "subst" "0.000451609" "01943" "NBAS_000044" "g.15415867T>G" "" "" "" "NBAS(NM_015909.3):c.5465A>C (p.N1822T, p.(Asn1822Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15275743T>G" "" "VUS" "" "0000509667" "0" "50" "2" "15415867" "15415867" "subst" "0.000451609" "01804" "NBAS_000044" "g.15415867T>G" "" "" "" "NBAS(NM_015909.3):c.5465A>C (p.N1822T, p.(Asn1822Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15275743T>G" "" "VUS" "" "0000509668" "0" "10" "2" "15415892" "15415892" "subst" "0.00203139" "02330" "NBAS_000045" "g.15415892A>G" "" "" "" "NBAS(NM_015909.3):c.5440T>C (p.L1814=), NBAS(NM_015909.4):c.5440T>C (p.L1814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15275768A>G" "" "benign" "" "0000509669" "0" "10" "2" "15415960" "15415963" "del" "0" "02330" "NBAS_000046" "g.15415960_15415963del" "" "" "" "NBAS(NM_015909.4):c.5390-17_5390-14delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15275836_15275839del" "" "benign" "" "0000509670" "0" "50" "2" "15427260" "15427260" "subst" "8.12579E-6" "01804" "NBAS_000047" "g.15427260C>T" "" "" "" "NBAS(NM_015909.3):c.5075G>A (p.(Arg1692His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15287136C>T" "" "VUS" "" "0000509671" "0" "30" "2" "15432720" "15432720" "subst" "5.27979E-5" "02330" "NBAS_000048" "g.15432720G>A" "" "" "" "NBAS(NM_015909.4):c.4968C>T (p.D1656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15292596G>A" "" "likely benign" "" "0000509672" "0" "30" "2" "15432775" "15432775" "subst" "0.00296043" "01943" "NBAS_000049" "g.15432775C>T" "" "" "" "NBAS(NM_015909.3):c.4913G>A (p.R1638H), NBAS(NM_015909.4):c.4913G>A (p.R1638H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15292651C>T" "" "likely benign" "" "0000509673" "0" "50" "2" "15448400" "15448400" "subst" "0" "01943" "NBAS_000050" "g.15448400G>T" "" "" "" "NBAS(NM_015909.3):c.4737C>A (p.S1579R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15308276G>T" "" "VUS" "" "0000509674" "0" "10" "2" "15449283" "15449283" "subst" "0.00402405" "02330" "NBAS_000051" "g.15449283G>C" "" "" "" "NBAS(NM_015909.4):c.4659+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15309159G>C" "" "benign" "" "0000509676" "0" "50" "2" "15470769" "15470769" "subst" "4.06451E-6" "02330" "NBAS_000052" "g.15470769C>T" "" "" "" "NBAS(NM_015909.4):c.4300G>A (p.D1434N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15330645C>T" "" "VUS" "" "0000509677" "0" "50" "2" "15470769" "15470769" "subst" "4.06451E-6" "02327" "NBAS_000052" "g.15470769C>T" "" "" "" "NBAS(NM_015909.4):c.4300G>A (p.D1434N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15330645C>T" "" "VUS" "" "0000509678" "0" "50" "2" "15470841" "15470841" "subst" "0.00144686" "02330" "NBAS_000053" "g.15470841T>C" "" "" "" "NBAS(NM_015909.3):c.4228A>G (p.T1410A), NBAS(NM_015909.4):c.4228A>G (p.T1410A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15330717T>C" "" "VUS" "" "0000509679" "0" "50" "2" "15496525" "15496525" "subst" "0.000476121" "01943" "NBAS_000054" "g.15496525T>C" "" "" "" "NBAS(NM_015909.3):c.3833A>G (p.E1278G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15356401T>C" "" "VUS" "" "0000509680" "0" "30" "2" "15506766" "15506766" "subst" "0.00191409" "01804" "NBAS_000055" "g.15506766G>T" "" "" "" "NBAS(NM_015909.3):c.3755C>A (p.(Ser1252Tyr)), NBAS(NM_015909.4):c.3755C>A (p.S1252Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15366642G>T" "" "likely benign" "" "0000509681" "0" "50" "2" "15514832" "15514832" "subst" "0.000353615" "02330" "NBAS_000056" "g.15514832T>C" "" "" "" "NBAS(NM_015909.4):c.3603A>G (p.Q1201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15374708T>C" "" "VUS" "" "0000509682" "0" "30" "2" "15523417" "15523417" "subst" "0.00205128" "02326" "NBAS_000057" "g.15523417A>G" "" "" "" "NBAS(NM_015909.4):c.3282T>C (p.H1094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15383293A>G" "" "likely benign" "" "0000509686" "0" "50" "2" "15534391" "15534391" "subst" "0.00361517" "01943" "NBAS_000058" "g.15534391G>A" "" "" "" "NBAS(NM_015909.3):c.3217C>T (p.R1073C, p.(Arg1073Cys)), NBAS(NM_015909.4):c.3217C>T (p.R1073C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15394267G>A" "" "VUS" "" "0000509687" "0" "30" "2" "15542337" "15542337" "subst" "0.014948" "01804" "NBAS_000059" "g.15542337C>G" "" "" "" "NBAS(NM_015909.3):c.3026G>C (p.(Cys1009Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15402213C>G" "" "likely benign" "" "0000509688" "0" "30" "2" "15555748" "15555748" "subst" "4.06279E-6" "01943" "NBAS_000060" "g.15555748T>C" "" "" "" "NBAS(NM_015909.3):c.2859A>G (p.L953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15415624T>C" "" "likely benign" "" "0000509689" "0" "30" "2" "15555762" "15555762" "subst" "0.0119227" "01804" "NBAS_000061" "g.15555762C>G" "" "" "" "NBAS(NM_015909.3):c.2845G>C (p.(Val949Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15415638C>G" "" "likely benign" "" "0000509692" "0" "50" "2" "15567824" "15567824" "subst" "0.00019282" "02330" "NBAS_000064" "g.15567824C>T" "" "" "" "NBAS(NM_015909.4):c.2423+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15427700C>T" "" "VUS" "" "0000509693" "0" "50" "2" "15601827" "15601827" "subst" "0" "02330" "NBAS_000065" "g.15601827G>T" "" "" "" "NBAS(NM_015909.4):c.2186C>A (p.A729E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15461703G>T" "" "VUS" "" "0000509694" "0" "50" "2" "15601827" "15601827" "subst" "0" "02327" "NBAS_000065" "g.15601827G>T" "" "" "" "NBAS(NM_015909.4):c.2186C>A (p.A729E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15461703G>T" "" "VUS" "" "0000509695" "0" "10" "2" "15607842" "15607842" "subst" "0.555619" "02325" "NBAS_000066" "g.15607842T>C" "" "" "" "NBAS(NM_015909.4):c.1964A>G (p.K655R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15467718T>C" "" "benign" "" "0000509697" "0" "30" "2" "15613369" "15613369" "subst" "0.00130445" "01943" "NBAS_000068" "g.15613369C>T" "" "" "" "NBAS(NM_015909.3):c.1702G>A (p.V568I), NBAS(NM_015909.4):c.1702G>A (p.V568I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15473245C>T" "" "likely benign" "" "0000509698" "0" "50" "2" "15614217" "15614217" "subst" "5.28035E-5" "01943" "NBAS_000069" "g.15614217T>A" "" "" "" "NBAS(NM_015909.3):c.1573A>T (p.T525S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15474093T>A" "" "VUS" "" "0000509699" "0" "10" "2" "15629014" "15629014" "subst" "0.00113349" "02330" "NBAS_000070" "g.15629014G>A" "" "" "" "NBAS(NM_015909.4):c.1083+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15488890G>A" "" "benign" "" "0000509701" "0" "30" "2" "15679410" "15679410" "subst" "0.00047918" "01943" "NBAS_000072" "g.15679410G>A" "" "" "" "NBAS(NM_015909.3):c.450C>T (p.A150=), NBAS(NM_015909.4):c.450C>T (p.A150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15539286G>A" "" "likely benign" "" "0000509702" "0" "50" "2" "15693565" "15693565" "subst" "4.06336E-6" "01804" "NBAS_000073" "g.15693565T>C" "" "" "" "NBAS(NM_015909.3):c.320A>G (p.(Gln107Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15553441T>C" "" "VUS" "" "0000509703" "0" "10" "2" "15694164" "15694165" "ins" "0.605742" "02325" "NBAS_000074" "g.15694164_15694165insA" "" "" "" "NBAS(NM_015909.4):c.287+20_287+21insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15554040_15554041insA" "" "benign" "" "0000606141" "0" "50" "2" "15307192" "15307192" "subst" "3.42422E-5" "01943" "NBAS_000075" "g.15307192C>T" "" "" "" "NBAS(NM_015909.3):c.7096G>A (p.A2366T), NBAS(NM_015909.4):c.7096G>A (p.A2366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15167068C>T" "" "VUS" "" "0000606142" "0" "50" "2" "15319171" "15319171" "subst" "2.03123E-5" "01943" "NBAS_000077" "g.15319171C>T" "" "" "" "NBAS(NM_015909.3):c.6781G>A (p.E2261K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15179047C>T" "" "VUS" "" "0000606145" "0" "90" "2" "15359095" "15359095" "subst" "2.03872E-5" "02327" "NBAS_000078" "g.15359095G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15218971G>C" "" "pathogenic" "" "0000606146" "0" "50" "2" "15432890" "15432890" "subst" "0" "01943" "NBAS_000080" "g.15432890C>T" "" "" "" "NBAS(NM_015909.3):c.4798G>A (p.A1600T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15292766C>T" "" "VUS" "" "0000606148" "0" "30" "2" "15496411" "15496411" "subst" "4.06928E-6" "02330" "NBAS_000081" "g.15496411T>C" "" "" "" "NBAS(NM_015909.4):c.3931+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15356287T>C" "" "likely benign" "" "0000606149" "0" "30" "2" "15523417" "15523417" "subst" "0.00205128" "02330" "NBAS_000057" "g.15523417A>G" "" "" "" "NBAS(NM_015909.4):c.3282T>C (p.H1094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15383293A>G" "" "likely benign" "" "0000606150" "0" "90" "2" "15601428" "15601428" "dup" "0" "01943" "NBAS_000083" "g.15601428dup" "" "" "" "NBAS(NM_015909.3):c.2236dupA (p.T746Nfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15461304dup" "" "pathogenic" "" "0000620739" "0" "50" "2" "15307278" "15307278" "subst" "8.12797E-6" "02325" "NBAS_000076" "g.15307278G>A" "" "" "" "NBAS(NM_015909.4):c.7010C>T (p.A2337V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15167154G>A" "" "VUS" "" "0000620740" "0" "10" "2" "15378825" "15378826" "ins" "0" "02329" "NBAS_000042" "g.15378825_15378826insTAAT" "" "" "" "NBAS(NM_015909.4):c.5725-13_5725-12insAATT, NBAS(NM_015909.4):c.5725-16_5725-15insATTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15238701_15238702insTAAT" "" "benign" "" "0000620741" "0" "30" "2" "15415892" "15415892" "subst" "0.00203139" "02326" "NBAS_000045" "g.15415892A>G" "" "" "" "NBAS(NM_015909.3):c.5440T>C (p.L1814=), NBAS(NM_015909.4):c.5440T>C (p.L1814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15275768A>G" "" "likely benign" "" "0000620742" "0" "10" "2" "15432841" "15432841" "subst" "0.00096264" "02330" "NBAS_000079" "g.15432841T>C" "" "" "" "NBAS(NM_015909.4):c.4847A>G (p.H1616R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15292717T>C" "" "benign" "" "0000620743" "0" "30" "2" "15506766" "15506766" "subst" "0.00191409" "02330" "NBAS_000055" "g.15506766G>T" "" "" "" "NBAS(NM_015909.3):c.3755C>A (p.(Ser1252Tyr)), NBAS(NM_015909.4):c.3755C>A (p.S1252Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15366642G>T" "" "likely benign" "" "0000620744" "0" "10" "2" "15506832" "15506832" "subst" "0.00155678" "02330" "NBAS_000082" "g.15506832C>T" "" "" "" "NBAS(NM_015909.4):c.3704-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15366708C>T" "" "benign" "" "0000620745" "0" "30" "2" "15534391" "15534391" "subst" "0.00361517" "02326" "NBAS_000058" "g.15534391G>A" "" "" "" "NBAS(NM_015909.3):c.3217C>T (p.R1073C, p.(Arg1073Cys)), NBAS(NM_015909.4):c.3217C>T (p.R1073C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15394267G>A" "" "likely benign" "" "0000620746" "0" "10" "2" "15601441" "15601441" "subst" "0.604722" "02329" "NBAS_000029" "g.15601441C>T" "" "" "" "NBAS(NM_015909.4):c.2223G>A (p.L741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15461317C>T" "" "benign" "" "0000620747" "0" "10" "2" "15601883" "15601883" "subst" "0.00175735" "02330" "NBAS_000084" "g.15601883C>T" "" "" "" "NBAS(NM_015909.4):c.2130G>A (p.Q710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15461759C>T" "" "benign" "" "0000620748" "0" "10" "2" "15607842" "15607842" "subst" "0.555619" "02329" "NBAS_000066" "g.15607842T>C" "" "" "" "NBAS(NM_015909.4):c.1964A>G (p.K655R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15467718T>C" "" "benign" "" "0000620749" "0" "10" "2" "15614404" "15614404" "subst" "0.60261" "02329" "NBAS_000030" "g.15614404T>C" "" "" "" "NBAS(NM_015909.4):c.1386A>G (p.R462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15474280T>C" "" "benign" "" "0000620750" "0" "10" "2" "15615910" "15615910" "subst" "0.590641" "02329" "NBAS_000031" "g.15615910A>G" "" "" "" "NBAS(NM_015909.4):c.1242T>C (p.S414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15475786A>G" "" "benign" "" "0000620751" "0" "10" "2" "15616013" "15616013" "subst" "0.589675" "02329" "NBAS_000032" "g.15616013C>G" "" "" "" "NBAS(NM_015909.4):c.1148-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15475889C>G" "" "benign" "" "0000620752" "0" "10" "2" "15618339" "15618339" "subst" "0.603768" "02329" "NBAS_000033" "g.15618339G>A" "" "" "" "NBAS(NM_015909.4):c.1147+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15478215G>A" "" "benign" "" "0000620753" "0" "10" "2" "15674686" "15674686" "subst" "0.561277" "02329" "NBAS_000035" "g.15674686T>C" "" "" "" "NBAS(NM_015909.4):c.727A>G (p.I243V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15534562T>C" "" "benign" "" "0000620754" "0" "10" "2" "15676686" "15676686" "subst" "0.607495" "02329" "NBAS_000036" "g.15676686G>A" "" "" "" "NBAS(NM_015909.4):c.514-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15536562G>A" "" "benign" "" "0000620755" "0" "10" "2" "15694164" "15694165" "ins" "0.605742" "02329" "NBAS_000074" "g.15694164_15694165insA" "" "" "" "NBAS(NM_015909.4):c.287+20_287+21insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15554040_15554041insA" "" "benign" "" "0000626340" "21" "90" "2" "15674729" "15674729" "dup" "0" "02284" "NBAS_000019" "g.15674729dup" "" "" "" "" "" "Germline" "-" "rs759315662" "0" "" "" "g.15534605dup" "" "pathogenic (recessive)" "ACMG" "0000626342" "11" "90" "2" "15567847" "15567847" "subst" "0" "02284" "NBAS_000086" "g.15567847T>C" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.15427723T>C" "" "likely pathogenic (recessive)" "ACMG" "0000628272" "11" "50" "2" "15448445" "15448445" "subst" "4.06392E-5" "02061" "NBAS_000085" "g.15448445C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15308321C>A" "" "VUS" "" "0000654217" "0" "30" "2" "15307356" "15307356" "subst" "0.000653828" "01943" "NBAS_000087" "g.15307356C>T" "" "" "" "NBAS(NM_015909.3):c.6932G>A (p.R2311H), NBAS(NM_015909.4):c.6932G>A (p.R2311H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15167232C>T" "" "likely benign" "" "0000654218" "0" "50" "2" "15307431" "15307433" "dup" "0" "02325" "NBAS_000088" "g.15307431_15307433dup" "" "" "" "NBAS(NM_015909.4):c.6856_6858dupTGT (p.C2286dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15167307_15167309dup" "" "VUS" "" "0000654219" "0" "50" "2" "15359018" "15359018" "subst" "3.65548E-5" "02325" "NBAS_000089" "g.15359018C>T" "" "" "" "NBAS(NM_015909.3):c.6311G>A (p.R2104Q), NBAS(NM_015909.4):c.6311G>A (p.R2104Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15218894C>T" "" "VUS" "" "0000654220" "0" "30" "2" "15374851" "15374851" "subst" "4.06289E-6" "01943" "NBAS_000090" "g.15374851A>G" "" "" "" "NBAS(NM_015909.3):c.5964T>C (p.S1988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15234727A>G" "" "likely benign" "" "0000654221" "0" "30" "2" "15449283" "15449283" "subst" "0.00402405" "02326" "NBAS_000051" "g.15449283G>C" "" "" "" "NBAS(NM_015909.4):c.4659+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15309159G>C" "" "likely benign" "" "0000654222" "0" "50" "2" "15470841" "15470841" "subst" "0.00144686" "01943" "NBAS_000053" "g.15470841T>C" "" "" "" "NBAS(NM_015909.3):c.4228A>G (p.T1410A), NBAS(NM_015909.4):c.4228A>G (p.T1410A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15330717T>C" "" "VUS" "" "0000654223" "0" "30" "2" "15555664" "15555664" "subst" "3.25127E-5" "01943" "NBAS_000091" "g.15555664A>C" "" "" "" "NBAS(NM_015909.3):c.2937+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15415540A>C" "" "likely benign" "" "0000654224" "0" "30" "2" "15613385" "15613385" "subst" "8.12671E-6" "01943" "NBAS_000092" "g.15613385C>T" "" "" "" "NBAS(NM_015909.3):c.1686G>A (p.R562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15473261C>T" "" "likely benign" "" "0000654225" "0" "30" "2" "15615856" "15615856" "subst" "0.000125963" "01943" "NBAS_000093" "g.15615856T>C" "" "" "" "NBAS(NM_015909.3):c.1296A>G (p.S432=), NBAS(NM_015909.4):c.1296A>G (p.S432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15475732T>C" "" "likely benign" "" "0000666144" "0" "90" "2" "15427231" "15427231" "del" "0" "01807" "NBAS_000094" "g.15427231del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.15287107del" "" "pathogenic" "" "0000676041" "0" "50" "2" "15359052" "15359052" "subst" "1.67943E-5" "01943" "NBAS_000095" "g.15359052G>A" "" "" "" "NBAS(NM_015909.3):c.6277C>T (p.R2093W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676042" "0" "30" "2" "15417096" "15417096" "subst" "2.44019E-5" "01943" "NBAS_000096" "g.15417096G>A" "" "" "" "NBAS(NM_015909.3):c.5268C>T (p.H1756=), NBAS(NM_015909.4):c.5268C>T (p.H1756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676043" "0" "30" "2" "15427245" "15427245" "subst" "0.000503746" "01943" "NBAS_000097" "g.15427245C>A" "" "" "" "NBAS(NM_015909.3):c.5090G>T (p.R1697L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676045" "0" "50" "2" "15448350" "15448350" "subst" "0" "02325" "NBAS_000098" "g.15448350G>C" "" "" "" "NBAS(NM_015909.4):c.4787C>G (p.P1596R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676046" "0" "30" "2" "15496430" "15496430" "subst" "0.00182222" "02325" "NBAS_000099" "g.15496430T>C" "" "" "" "NBAS(NM_015909.3):c.3928A>G (p.T1310A, p.(Thr1310Ala)), NBAS(NM_015909.4):c.3928A>G (p.T1310A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676047" "0" "50" "2" "15519814" "15519814" "subst" "0.000296492" "01943" "NBAS_000100" "g.15519814C>T" "" "" "" "NBAS(NM_015909.3):c.3502G>A (p.E1168K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676048" "0" "30" "2" "15567824" "15567824" "subst" "0.00019282" "02326" "NBAS_000064" "g.15567824C>T" "" "" "" "NBAS(NM_015909.4):c.2423+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676049" "0" "50" "2" "15615979" "15615979" "subst" "1.62627E-5" "01943" "NBAS_000101" "g.15615979T>C" "" "" "" "NBAS(NM_015909.3):c.1173A>G (p.I391M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688344" "0" "30" "2" "15307412" "15307412" "subst" "0.000601162" "01943" "NBAS_000102" "g.15307412G>C" "" "" "" "NBAS(NM_015909.3):c.6876C>G (p.S2292=), NBAS(NM_015909.4):c.6876C>G (p.S2292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688345" "0" "50" "2" "15374724" "15374724" "subst" "8.12453E-6" "01943" "NBAS_000103" "g.15374724T>A" "" "" "" "NBAS(NM_015909.3):c.6091A>T (p.I2031F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688346" "0" "50" "2" "15415907" "15415907" "subst" "0" "01943" "NBAS_000104" "g.15415907T>G" "" "" "" "NBAS(NM_015909.3):c.5425A>C (p.S1809R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688347" "0" "30" "2" "15417189" "15417189" "subst" "1.62933E-5" "01943" "NBAS_000105" "g.15417189G>A" "" "" "" "NBAS(NM_015909.3):c.5175C>T (p.D1725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688348" "0" "50" "2" "15470841" "15470841" "subst" "0.00144686" "02325" "NBAS_000053" "g.15470841T>C" "" "" "" "NBAS(NM_015909.3):c.4228A>G (p.T1410A), NBAS(NM_015909.4):c.4228A>G (p.T1410A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688349" "0" "30" "2" "15496430" "15496430" "subst" "0.00182222" "01943" "NBAS_000099" "g.15496430T>C" "" "" "" "NBAS(NM_015909.3):c.3928A>G (p.T1310A, p.(Thr1310Ala)), NBAS(NM_015909.4):c.3928A>G (p.T1310A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688350" "0" "50" "2" "15601897" "15601897" "subst" "0.00111177" "01943" "NBAS_000106" "g.15601897G>A" "" "" "" "NBAS(NM_015909.3):c.2116C>T (p.H706Y, p.(His706Tyr)), NBAS(NM_015909.4):c.2116C>T (p.H706Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688351" "0" "30" "2" "15613457" "15613457" "subst" "0.000333396" "01943" "NBAS_000107" "g.15613457C>T" "" "" "" "NBAS(NM_015909.3):c.1614G>A (p.E538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688352" "0" "50" "2" "15676582" "15676582" "subst" "0" "02325" "NBAS_000108" "g.15676582C>G" "" "" "" "NBAS(NM_015909.4):c.607G>C (p.V203L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688353" "0" "30" "2" "15676649" "15676649" "subst" "2.03948E-5" "01943" "NBAS_000109" "g.15676649G>A" "" "" "" "NBAS(NM_015909.3):c.540C>T (p.S180=), NBAS(NM_015909.4):c.540C>T (p.S180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000714569" "1" "50" "2" "15519909" "15519909" "subst" "6.90574E-5" "00006" "NBAS_000110" "g.15519909T>A" "" "{PMID:Katagiri 2017:29681726}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000714570" "2" "50" "2" "15613423" "15613423" "subst" "0.000117861" "00006" "NBAS_000111" "g.15613423C>A" "" "{PMID:Katagiri 2017:29681726}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000717886" "0" "50" "2" "15374831" "15374831" "subst" "0.000532196" "01943" "NBAS_000112" "g.15374831C>T" "" "" "" "NBAS(NM_015909.3):c.5984G>A (p.R1995Q), NBAS(NM_015909.4):c.5984G>A (p.(Arg1995Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717887" "0" "30" "2" "15378727" "15378727" "subst" "0.000642376" "02326" "NBAS_000040" "g.15378727G>A" "" "" "" "NBAS(NM_015909.3):c.5808C>T (p.N1936=), NBAS(NM_015909.4):c.5808C>T (p.N1936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717888" "0" "30" "2" "15378739" "15378739" "subst" "0.000158606" "01943" "NBAS_000113" "g.15378739T>C" "" "" "" "NBAS(NM_015909.3):c.5796A>G (p.P1932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717889" "0" "30" "2" "15415892" "15415892" "subst" "0.00203139" "01943" "NBAS_000045" "g.15415892A>G" "" "" "" "NBAS(NM_015909.3):c.5440T>C (p.L1814=), NBAS(NM_015909.4):c.5440T>C (p.L1814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717890" "0" "50" "2" "15427236" "15427236" "subst" "0" "01943" "NBAS_000114" "g.15427236A>C" "" "" "" "NBAS(NM_015909.3):c.5099T>G (p.V1700G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717891" "0" "30" "2" "15427245" "15427245" "subst" "5.2812E-5" "01943" "NBAS_000115" "g.15427245C>T" "" "" "" "NBAS(NM_015909.3):c.5090G>A (p.R1697H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717892" "0" "30" "2" "15432841" "15432841" "subst" "0.00096264" "02326" "NBAS_000079" "g.15432841T>C" "" "" "" "NBAS(NM_015909.4):c.4847A>G (p.H1616R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717893" "0" "70" "2" "15448406" "15448408" "dup" "0" "01943" "NBAS_000116" "g.15448406_15448408dup" "" "" "" "NBAS(NM_015909.3):c.4731_4733dupCTA (p.Y1578dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717894" "0" "50" "2" "15448413" "15448413" "subst" "2.03206E-5" "02325" "NBAS_000117" "g.15448413G>A" "" "" "" "NBAS(NM_015909.4):c.4724C>T (p.A1575V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717895" "0" "50" "2" "15542296" "15542296" "subst" "0.00219942" "02329" "NBAS_000027" "g.15542296A>G" "" "" "" "NBAS(NM_015909.4):c.3067T>C (p.Y1023H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717896" "0" "90" "2" "15557837" "15557837" "subst" "4.083E-6" "02329" "NBAS_000028" "g.15557837C>A" "" "" "" "NBAS(NM_015909.4):c.2578-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717897" "0" "50" "2" "15607494" "15607494" "subst" "0.000191215" "01943" "NBAS_000118" "g.15607494G>A" "" "" "" "NBAS(NM_015909.3):c.2056C>T (p.R686W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717898" "0" "30" "2" "15607935" "15607935" "subst" "0" "01943" "NBAS_000119" "g.15607935G>T" "" "" "" "NBAS(NM_015909.3):c.1878-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717899" "0" "50" "2" "15644286" "15644286" "subst" "2.84426E-5" "01943" "NBAS_000120" "g.15644286G>A" "" "" "" "NBAS(NM_015909.3):c.937C>T (p.R313C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000759993" "0" "50" "2" "15601897" "15601897" "subst" "0.00111177" "00000" "NBAS_000106" "g.15601897G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.15461773G>A" "" "VUS" "" "0000760033" "0" "50" "2" "15330495" "15330495" "dup" "0" "00000" "NBAS_000121" "g.15330495dup" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.15190371dup" "" "VUS" "" "0000760038" "0" "50" "2" "15415867" "15415867" "subst" "0.000451609" "00000" "NBAS_000044" "g.15415867T>G" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.15275743T>G" "" "VUS" "" "0000764134" "0" "30" "2" "15560357" "15560357" "subst" "0" "04043" "NBAS_000122" "g.15560357C>T" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "" "" "0" "" "" "g.15420233C>T" "" "likely benign" "" "0000793915" "0" "70" "2" "15378795" "15378795" "subst" "0" "03508" "NBAS_000124" "g.15378795G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000793916" "0" "70" "2" "15519822" "15519822" "del" "0" "03508" "NBAS_000123" "g.15519822del" "" "" "" "3494delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15379698del" "" "pathogenic" "ACMG" "0000799719" "0" "50" "2" "15359018" "15359018" "subst" "3.65548E-5" "01943" "NBAS_000089" "g.15359018C>T" "" "" "" "NBAS(NM_015909.3):c.6311G>A (p.R2104Q), NBAS(NM_015909.4):c.6311G>A (p.R2104Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799720" "0" "30" "2" "15372563" "15372563" "subst" "3.25047E-5" "02326" "NBAS_000125" "g.15372563G>A" "" "" "" "NBAS(NM_015909.4):c.6219C>T (p.H2073=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799721" "0" "50" "2" "15374811" "15374811" "subst" "0" "01943" "NBAS_000126" "g.15374811G>A" "" "" "" "NBAS(NM_015909.3):c.6004C>T (p.H2002Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799722" "0" "50" "2" "15417085" "15417085" "subst" "0" "01943" "NBAS_000127" "g.15417085T>A" "" "" "" "NBAS(NM_015909.3):c.5279A>T (p.Q1760L), NBAS(NM_015909.4):c.5279A>T (p.Q1760L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799723" "0" "30" "2" "15432720" "15432720" "subst" "5.27979E-5" "02326" "NBAS_000048" "g.15432720G>A" "" "" "" "NBAS(NM_015909.4):c.4968C>T (p.D1656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799724" "0" "30" "2" "15432775" "15432775" "subst" "0.00296043" "02325" "NBAS_000049" "g.15432775C>T" "" "" "" "NBAS(NM_015909.3):c.4913G>A (p.R1638H), NBAS(NM_015909.4):c.4913G>A (p.R1638H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799726" "0" "30" "2" "15468407" "15468407" "subst" "4.06656E-5" "01943" "NBAS_000128" "g.15468407G>A" "" "" "" "NBAS(NM_015909.3):c.4377C>T (p.I1459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799727" "0" "30" "2" "15496430" "15496430" "subst" "0.00182222" "02326" "NBAS_000099" "g.15496430T>C" "" "" "" "NBAS(NM_015909.3):c.3928A>G (p.T1310A, p.(Thr1310Ala)), NBAS(NM_015909.4):c.3928A>G (p.T1310A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799728" "0" "30" "2" "15506734" "15506734" "subst" "9.34868E-5" "02329" "NBAS_000129" "g.15506734G>A" "" "" "" "NBAS(NM_015909.4):c.3787C>T (p.L1263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799729" "0" "70" "2" "15519953" "15519953" "subst" "4.06607E-6" "02325" "NBAS_000130" "g.15519953T>C" "" "" "" "NBAS(NM_015909.4):c.3363A>G (p.I1121M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799730" "0" "70" "2" "15542291" "15542291" "subst" "0" "01943" "NBAS_000131" "g.15542291C>T" "" "" "" "NBAS(NM_015909.3):c.3071+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799731" "0" "50" "2" "15557664" "15557664" "subst" "0.0002569" "01943" "NBAS_000132" "g.15557664A>G" "" "" "" "NBAS(NM_015909.3):c.2750T>C (p.L917S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799732" "0" "30" "2" "15607826" "15607826" "subst" "0.000346608" "01943" "NBAS_000133" "g.15607826C>T" "" "" "" "NBAS(NM_015909.3):c.1980G>A (p.K660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799733" "0" "50" "2" "15607887" "15607887" "subst" "6.12075E-5" "01943" "NBAS_000134" "g.15607887T>A" "" "" "" "NBAS(NM_015909.3):c.1919A>T (p.Y640F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799734" "0" "10" "2" "15618404" "15618404" "subst" "0.0078811" "02329" "NBAS_000135" "g.15618404C>G" "" "" "" "NBAS(NM_015909.4):c.1093G>C (p.D365H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799735" "0" "50" "2" "15651428" "15651428" "subst" "0" "01943" "NBAS_000136" "g.15651428T>C" "" "" "" "NBAS(NM_015909.3):c.793A>G (p.K265E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799736" "0" "30" "2" "15674772" "15674772" "subst" "2.03148E-5" "02326" "NBAS_000137" "g.15674772T>A" "" "" "" "NBAS(NM_015909.4):c.648-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799737" "0" "70" "2" "15701428" "15701428" "subst" "4.07947E-6" "01943" "NBAS_000138" "g.15701428T>C" "" "" "" "NBAS(NM_015909.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000848968" "0" "30" "2" "15307259" "15307259" "subst" "2.03269E-5" "01943" "NBAS_000139" "g.15307259G>A" "" "" "" "NBAS(NM_015909.3):c.7029C>T (p.A2343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848969" "0" "30" "2" "15307356" "15307356" "subst" "0.000653828" "02326" "NBAS_000087" "g.15307356C>T" "" "" "" "NBAS(NM_015909.3):c.6932G>A (p.R2311H), NBAS(NM_015909.4):c.6932G>A (p.R2311H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848970" "0" "90" "2" "15326913" "15326913" "del" "0" "01943" "NBAS_000142" "g.15326913del" "" "" "" "NBAS(NM_015909.3):c.6667delA (p.M2223Cfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848971" "0" "30" "2" "15358984" "15358984" "subst" "5.27889E-5" "01943" "NBAS_000143" "g.15358984T>C" "" "" "" "NBAS(NM_015909.3):c.6345A>G (p.Q2115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848972" "0" "30" "2" "15359071" "15359071" "subst" "4.06838E-6" "01943" "NBAS_000144" "g.15359071C>T" "" "" "" "NBAS(NM_015909.3):c.6258G>A (p.E2086=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848973" "0" "30" "2" "15432775" "15432775" "subst" "0.00296043" "02326" "NBAS_000049" "g.15432775C>T" "" "" "" "NBAS(NM_015909.3):c.4913G>A (p.R1638H), NBAS(NM_015909.4):c.4913G>A (p.R1638H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848974" "0" "50" "2" "15432855" "15432855" "subst" "5.28202E-5" "01943" "NBAS_000146" "g.15432855C>G" "" "" "" "NBAS(NM_015909.3):c.4833G>C (p.R1611S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848976" "0" "10" "2" "15449283" "15449283" "subst" "0.00402405" "02329" "NBAS_000051" "g.15449283G>C" "" "" "" "NBAS(NM_015909.4):c.4659+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848977" "0" "30" "2" "15470846" "15470846" "subst" "7.7237E-5" "02326" "NBAS_000147" "g.15470846C>T" "" "" "" "NBAS(NM_015909.4):c.4223G>A (p.R1408H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848978" "0" "30" "2" "15506813" "15506813" "subst" "0" "02330" "NBAS_000150" "g.15506813T>C" "" "" "" "NBAS(NM_015909.4):c.3708A>G (p.R1236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848979" "0" "10" "2" "15523417" "15523417" "subst" "0.00205128" "02329" "NBAS_000057" "g.15523417A>G" "" "" "" "NBAS(NM_015909.4):c.3282T>C (p.H1094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848980" "0" "50" "2" "15607502" "15607502" "subst" "0.00011392" "01943" "NBAS_000156" "g.15607502C>T" "" "" "" "NBAS(NM_015909.3):c.2048G>A (p.R683H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848981" "0" "10" "2" "15674702" "15674702" "subst" "0.0011658" "02329" "NBAS_000159" "g.15674702A>G" "" "" "" "NBAS(NM_015909.4):c.711T>C (p.H237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848982" "0" "30" "2" "15674772" "15674772" "subst" "2.03148E-5" "02330" "NBAS_000137" "g.15674772T>A" "" "" "" "NBAS(NM_015909.4):c.648-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848983" "0" "30" "2" "15679410" "15679410" "subst" "0.00047918" "02329" "NBAS_000072" "g.15679410G>A" "" "" "" "NBAS(NM_015909.3):c.450C>T (p.A150=), NBAS(NM_015909.4):c.450C>T (p.A150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848984" "0" "30" "2" "15694253" "15694253" "subst" "0" "02330" "NBAS_000161" "g.15694253A>G" "" "" "" "NBAS(NM_015909.4):c.219T>C (p.P73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857771" "0" "90" "2" "15307362" "15307366" "del" "0" "01943" "NBAS_000140" "g.15307362_15307366del" "" "" "" "NBAS(NM_015909.3):c.6923_6927delTCTAT (p.F2308Sfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857772" "0" "90" "2" "15307370" "15307371" "del" "0" "01943" "NBAS_000141" "g.15307370_15307371del" "" "" "" "NBAS(NM_015909.3):c.6918_6919delTC (p.P2307Lfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857773" "0" "30" "2" "15378727" "15378727" "subst" "0.000642376" "02329" "NBAS_000040" "g.15378727G>A" "" "" "" "NBAS(NM_015909.3):c.5808C>T (p.N1936=), NBAS(NM_015909.4):c.5808C>T (p.N1936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857774" "0" "50" "2" "15415683" "15415683" "subst" "0" "01804" "NBAS_000145" "g.15415683G>A" "" "" "" "NBAS(NM_015909.3):c.5649C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857776" "0" "50" "2" "15470896" "15470902" "del" "4.88938E-5" "01943" "NBAS_000148" "g.15470896_15470902del" "" "" "" "NBAS(NM_015909.3):c.4180-13_4180-7delTTCTTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857777" "0" "50" "2" "15493769" "15493769" "subst" "3.25624E-5" "01943" "NBAS_000149" "g.15493769T>C" "" "" "" "NBAS(NM_015909.3):c.3997A>G (p.T1333A), NBAS(NM_015909.4):c.3997A>G (p.T1333A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857778" "0" "50" "2" "15519739" "15519739" "subst" "0.000101557" "01943" "NBAS_000151" "g.15519739T>C" "" "" "" "NBAS(NM_015909.3):c.3577A>G (p.M1193V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857779" "0" "30" "2" "15534391" "15534391" "subst" "0.00361517" "02325" "NBAS_000058" "g.15534391G>A" "" "" "" "NBAS(NM_015909.3):c.3217C>T (p.R1073C, p.(Arg1073Cys)), NBAS(NM_015909.4):c.3217C>T (p.R1073C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857780" "0" "10" "2" "15536522" "15536522" "subst" "0.00304894" "02329" "NBAS_000152" "g.15536522T>C" "" "" "" "NBAS(NM_015909.4):c.3134+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857781" "0" "30" "2" "15564574" "15564574" "subst" "4.06445E-6" "01943" "NBAS_000153" "g.15564574A>G" "" "" "" "NBAS(NM_015909.3):c.2442T>C (p.N814=), NBAS(NM_015909.4):c.2442T>C (p.N814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857782" "0" "30" "2" "15601408" "15601408" "subst" "1.21864E-5" "02326" "NBAS_000154" "g.15601408C>G" "" "" "" "NBAS(NM_015909.4):c.2256G>C (p.L752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857783" "0" "10" "2" "15601905" "15601905" "subst" "0.00239161" "02329" "NBAS_000155" "g.15601905C>G" "" "" "" "NBAS(NM_015909.4):c.2108G>C (p.G703A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857784" "0" "30" "2" "15615913" "15615913" "subst" "0.000105633" "01943" "NBAS_000157" "g.15615913T>C" "" "" "" "NBAS(NM_015909.3):c.1239A>G (p.S413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857785" "0" "70" "2" "15615925" "15615925" "dup" "0" "02326" "NBAS_000158" "g.15615925dup" "" "" "" "NBAS(NM_015909.4):c.1229dupT (p.L410Ffs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857786" "0" "30" "2" "15674702" "15674702" "subst" "0.0011658" "02326" "NBAS_000159" "g.15674702A>G" "" "" "" "NBAS(NM_015909.4):c.711T>C (p.H237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857787" "0" "50" "2" "15674757" "15674757" "subst" "0.000532183" "01804" "NBAS_000160" "g.15674757G>C" "" "" "" "NBAS(NM_015909.3):c.656C>G (p.(Thr219Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857788" "0" "30" "2" "15676649" "15676649" "subst" "2.03948E-5" "02326" "NBAS_000109" "g.15676649G>A" "" "" "" "NBAS(NM_015909.3):c.540C>T (p.S180=), NBAS(NM_015909.4):c.540C>T (p.S180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874101" "21" "90" "2" "15644342" "15644342" "subst" "0" "04076" "NBAS_000162" "g.15644342A>T" "" "{PMID:Priglinger 2022:36479642}, {DOI:Priglinger 2022:10.1002/mgg3.2120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15504218A>T" "" "likely pathogenic (recessive)" "ACMG" "0000883775" "0" "30" "2" "15307184" "15307184" "subst" "4.4331E-5" "02330" "NBAS_000163" "g.15307184C>T" "" "" "" "NBAS(NM_015909.4):c.7104G>A (p.Q2368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883776" "0" "50" "2" "15307264" "15307264" "subst" "2.43883E-5" "02325" "NBAS_000164" "g.15307264C>T" "" "" "" "NBAS(NM_015909.4):c.7024G>A (p.E2342K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883777" "0" "30" "2" "15319147" "15319147" "subst" "0.00171021" "02326" "NBAS_000039" "g.15319147C>T" "" "" "" "NBAS(NM_015909.3):c.6805G>A (p.E2269K), NBAS(NM_015909.4):c.6805G>A (p.E2269K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883778" "0" "30" "2" "15415770" "15415770" "subst" "0" "02329" "NBAS_000165" "g.15415770C>T" "" "" "" "NBAS(NM_015909.4):c.5562G>A (p.L1854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883779" "0" "50" "2" "15417085" "15417085" "subst" "0" "02325" "NBAS_000127" "g.15417085T>A" "" "" "" "NBAS(NM_015909.3):c.5279A>T (p.Q1760L), NBAS(NM_015909.4):c.5279A>T (p.Q1760L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883780" "0" "10" "2" "15432775" "15432775" "subst" "0.00296043" "02329" "NBAS_000049" "g.15432775C>T" "" "" "" "NBAS(NM_015909.3):c.4913G>A (p.R1638H), NBAS(NM_015909.4):c.4913G>A (p.R1638H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883781" "0" "10" "2" "15432841" "15432841" "subst" "0.00096264" "02329" "NBAS_000079" "g.15432841T>C" "" "" "" "NBAS(NM_015909.4):c.4847A>G (p.H1616R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883784" "0" "90" "2" "15448384" "15448384" "subst" "4.06362E-6" "02327" "NBAS_000166" "g.15448384G>A" "" "" "" "NBAS(NM_015909.4):c.4753C>T (p.(Arg1585*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883785" "0" "50" "2" "15470841" "15470841" "subst" "0.00144686" "02326" "NBAS_000053" "g.15470841T>C" "" "" "" "NBAS(NM_015909.3):c.4228A>G (p.T1410A), NBAS(NM_015909.4):c.4228A>G (p.T1410A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883786" "0" "30" "2" "15493769" "15493769" "subst" "3.25624E-5" "02326" "NBAS_000149" "g.15493769T>C" "" "" "" "NBAS(NM_015909.3):c.3997A>G (p.T1333A), NBAS(NM_015909.4):c.3997A>G (p.T1333A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883787" "0" "10" "2" "15506766" "15506766" "subst" "0.00191409" "02329" "NBAS_000055" "g.15506766G>T" "" "" "" "NBAS(NM_015909.3):c.3755C>A (p.(Ser1252Tyr)), NBAS(NM_015909.4):c.3755C>A (p.S1252Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883788" "0" "10" "2" "15506832" "15506832" "subst" "0.00155678" "02329" "NBAS_000082" "g.15506832C>T" "" "" "" "NBAS(NM_015909.4):c.3704-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883789" "0" "30" "2" "15519827" "15519827" "subst" "0" "02329" "NBAS_000167" "g.15519827G>A" "" "" "" "NBAS(NM_015909.4):c.3489C>T (p.Y1163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883790" "0" "30" "2" "15534410" "15534410" "subst" "3.66958E-5" "02330" "NBAS_000168" "g.15534410T>C" "" "" "" "NBAS(NM_015909.4):c.3198A>G (p.Q1066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883791" "0" "30" "2" "15534428" "15534428" "subst" "0" "02330" "NBAS_000169" "g.15534428T>A" "" "" "" "NBAS(NM_015909.4):c.3180A>T (p.S1060=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883792" "0" "90" "2" "15555780" "15555780" "subst" "6.90467E-5" "02326" "NBAS_000011" "g.15555780C>A" "" "" "" "NBAS(NM_015909.3):c.2827G>T (p.(Glu943*)), NBAS(NM_015909.4):c.2827G>T (p.E943*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883793" "0" "30" "2" "15555826" "15555826" "subst" "2.4371E-5" "02326" "NBAS_000170" "g.15555826A>G" "" "" "" "NBAS(NM_015909.4):c.2781T>C (p.Y927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883794" "0" "30" "2" "15557671" "15557671" "subst" "4.07418E-6" "02326" "NBAS_000171" "g.15557671G>A" "" "" "" "NBAS(NM_015909.4):c.2743C>T (p.L915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883795" "0" "10" "2" "15601883" "15601883" "subst" "0.00175735" "02329" "NBAS_000084" "g.15601883C>T" "" "" "" "NBAS(NM_015909.4):c.2130G>A (p.Q710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883796" "0" "30" "2" "15601897" "15601897" "subst" "0.00111177" "02326" "NBAS_000106" "g.15601897G>A" "" "" "" "NBAS(NM_015909.3):c.2116C>T (p.H706Y, p.(His706Tyr)), NBAS(NM_015909.4):c.2116C>T (p.H706Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883797" "0" "10" "2" "15607858" "15607858" "subst" "0.00163231" "02330" "NBAS_000067" "g.15607858G>A" "" "" "" "NBAS(NM_015909.4):c.1948C>T (p.P650S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883798" "0" "30" "2" "15679410" "15679410" "subst" "0.00047918" "02326" "NBAS_000072" "g.15679410G>A" "" "" "" "NBAS(NM_015909.3):c.450C>T (p.A150=), NBAS(NM_015909.4):c.450C>T (p.A150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908863" "1" "90" "2" "15427178" "15427393" "dup" "0" "00006" "NBAS_000173" "g.(?_15427178)_(15427393_?)dup" "" "{PMID:Bournazos 2022:34906502}" "" "[15427178_15427393dup;15614210_15614501dup]" "transcripts cycloheximide sensitive (transcripts degraded); upstream other duplication variant described" "Germline" "" "" "0" "" "" "" "" "pathogenic (!)" "" "0000908929" "2" "90" "2" "15679451" "15679451" "subst" "1.62434E-5" "00006" "NBAS_000174" "g.15679451G>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15539327G>A" "" "pathogenic (recessive)" "" "0000908945" "1" "90" "2" "15614210" "15614501" "dup" "0" "00006" "NBAS_000172" "g.(?_15614210)_(15614501_?)dup" "" "{PMID:Bournazos 2022:34906502}" "" "[15427178_15427393dup;15614210_15614501dup]" "transcripts cycloheximide sensitive (transcripts degraded)" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909188" "11" "90" "2" "15427231" "15427231" "del" "0" "00006" "NBAS_000094" "g.15427231del" "" "{PMID:Priglinger 2022:36479642}, {DOI:Priglinger 2022:10.1002/mgg3.2120}" "" "5104delA" "" "Germline" "yes" "" "0" "" "" "g.15287107del" "" "pathogenic (recessive)" "" "0000911197" "0" "30" "2" "15496430" "15496430" "subst" "0.00182222" "01804" "NBAS_000099" "g.15496430T>C" "" "" "" "NBAS(NM_015909.3):c.3928A>G (p.T1310A, p.(Thr1310Ala)), NBAS(NM_015909.4):c.3928A>G (p.T1310A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911198" "0" "30" "2" "15514863" "15514863" "del" "0" "02330" "NBAS_000175" "g.15514863del" "" "" "" "NBAS(NM_015909.4):c.3591-17delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911199" "0" "30" "2" "15519713" "15519713" "subst" "0.000561304" "02330" "NBAS_000176" "g.15519713A>G" "" "" "" "NBAS(NM_015909.4):c.3590+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911200" "0" "30" "2" "15534391" "15534391" "subst" "0.00361517" "02330" "NBAS_000058" "g.15534391G>A" "" "" "" "NBAS(NM_015909.3):c.3217C>T (p.R1073C, p.(Arg1073Cys)), NBAS(NM_015909.4):c.3217C>T (p.R1073C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911201" "0" "30" "2" "15567824" "15567824" "subst" "0.00019282" "02329" "NBAS_000064" "g.15567824C>T" "" "" "" "NBAS(NM_015909.4):c.2423+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911202" "0" "30" "2" "15674741" "15674741" "subst" "1.21862E-5" "02330" "NBAS_000177" "g.15674741T>C" "" "" "" "NBAS(NM_015909.4):c.672A>G (p.Q224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911203" "0" "30" "2" "15698746" "15698746" "subst" "0.00798511" "01804" "NBAS_000178" "g.15698746G>C" "" "" "" "NBAS(NM_015909.3):c.130C>G (p.(Gln44Glu)), NBAS(NM_015909.4):c.130C>G (p.Q44E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923304" "0" "30" "2" "15319247" "15319247" "subst" "0" "02326" "NBAS_000179" "g.15319247C>T" "" "" "" "NBAS(NM_015909.4):c.6712-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923305" "0" "10" "2" "15415892" "15415892" "subst" "0.00203139" "02329" "NBAS_000045" "g.15415892A>G" "" "" "" "NBAS(NM_015909.3):c.5440T>C (p.L1814=), NBAS(NM_015909.4):c.5440T>C (p.L1814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923306" "0" "30" "2" "15449355" "15449355" "subst" "0.000191399" "02326" "NBAS_000180" "g.15449355T>G" "" "" "" "NBAS(NM_015909.4):c.4599A>C (p.A1533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923307" "0" "30" "2" "15467975" "15467975" "subst" "4.0699E-6" "02326" "NBAS_000181" "g.15467975G>A" "" "" "" "NBAS(NM_015909.4):c.4481C>T (p.T1494I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923308" "0" "30" "2" "15555722" "15555722" "subst" "3.24987E-5" "02326" "NBAS_000182" "g.15555722G>C" "" "" "" "NBAS(NM_015909.4):c.2885C>G (p.A962G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923309" "0" "30" "2" "15564574" "15564574" "subst" "4.06445E-6" "02326" "NBAS_000153" "g.15564574A>G" "" "" "" "NBAS(NM_015909.3):c.2442T>C (p.N814=), NBAS(NM_015909.4):c.2442T>C (p.N814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923310" "0" "50" "2" "15601897" "15601897" "subst" "0.00111177" "01804" "NBAS_000106" "g.15601897G>A" "" "" "" "NBAS(NM_015909.3):c.2116C>T (p.H706Y, p.(His706Tyr)), NBAS(NM_015909.4):c.2116C>T (p.H706Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923311" "0" "10" "2" "15614419" "15614419" "subst" "0.00119523" "02329" "NBAS_000183" "g.15614419A>C" "" "" "" "NBAS(NM_015909.4):c.1371T>G (p.S457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928274" "0" "30" "2" "15307192" "15307192" "subst" "3.42422E-5" "02326" "NBAS_000075" "g.15307192C>T" "" "" "" "NBAS(NM_015909.3):c.7096G>A (p.A2366T), NBAS(NM_015909.4):c.7096G>A (p.A2366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928275" "0" "90" "2" "15415785" "15415785" "del" "4.06792E-6" "02326" "NBAS_000184" "g.15415785del" "" "" "" "NBAS(NM_015909.4):c.5547delC (p.W1850Gfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928276" "0" "30" "2" "15470773" "15470773" "subst" "0" "02329" "NBAS_000185" "g.15470773G>A" "" "" "" "NBAS(NM_015909.4):c.4296C>T (p.V1432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928277" "0" "30" "2" "15534391" "15534391" "subst" "0.00361517" "01804" "NBAS_000058" "g.15534391G>A" "" "" "" "NBAS(NM_015909.3):c.3217C>T (p.R1073C, p.(Arg1073Cys)), NBAS(NM_015909.4):c.3217C>T (p.R1073C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928278" "0" "10" "2" "15536522" "15536522" "subst" "0.00304894" "02326" "NBAS_000152" "g.15536522T>C" "" "" "" "NBAS(NM_015909.4):c.3134+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928279" "0" "30" "2" "15615856" "15615856" "subst" "0.000125963" "02329" "NBAS_000093" "g.15615856T>C" "" "" "" "NBAS(NM_015909.3):c.1296A>G (p.S432=), NBAS(NM_015909.4):c.1296A>G (p.S432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928280" "0" "10" "2" "15674779" "15674779" "subst" "0.0102163" "02329" "NBAS_000186" "g.15674779G>A" "" "" "" "NBAS(NM_015909.4):c.648-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928281" "0" "10" "2" "15698746" "15698746" "subst" "0.00798511" "02329" "NBAS_000178" "g.15698746G>C" "" "" "" "NBAS(NM_015909.3):c.130C>G (p.(Gln44Glu)), NBAS(NM_015909.4):c.130C>G (p.Q44E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947361" "0" "30" "2" "15307412" "15307412" "subst" "0.000601162" "02330" "NBAS_000102" "g.15307412G>C" "" "" "" "NBAS(NM_015909.3):c.6876C>G (p.S2292=), NBAS(NM_015909.4):c.6876C>G (p.S2292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947362" "0" "30" "2" "15417096" "15417096" "subst" "2.44019E-5" "02326" "NBAS_000096" "g.15417096G>A" "" "" "" "NBAS(NM_015909.3):c.5268C>T (p.H1756=), NBAS(NM_015909.4):c.5268C>T (p.H1756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947363" "0" "30" "2" "15468426" "15468426" "subst" "0.00119187" "02329" "NBAS_000187" "g.15468426C>T" "" "" "" "NBAS(NM_015909.4):c.4358G>A (p.C1453Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947364" "0" "30" "2" "15496430" "15496430" "subst" "0.00182222" "02330" "NBAS_000099" "g.15496430T>C" "" "" "" "NBAS(NM_015909.3):c.3928A>G (p.T1310A, p.(Thr1310Ala)), NBAS(NM_015909.4):c.3928A>G (p.T1310A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947365" "0" "30" "2" "15534481" "15534481" "subst" "0.000493736" "01804" "NBAS_000188" "g.15534481T>C" "" "" "" "NBAS(NM_015909.3):c.3135-8A>G (p.(=)), NBAS(NM_015909.4):c.3135-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947366" "0" "30" "2" "15613369" "15613369" "subst" "0.00130445" "02329" "NBAS_000068" "g.15613369C>T" "" "" "" "NBAS(NM_015909.3):c.1702G>A (p.V568I), NBAS(NM_015909.4):c.1702G>A (p.V568I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947367" "0" "30" "2" "15651490" "15651490" "subst" "4.09856E-6" "02329" "NBAS_000189" "g.15651490T>A" "" "" "" "NBAS(NM_015909.4):c.747-16A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947368" "0" "30" "2" "15674702" "15674702" "subst" "0.0011658" "02330" "NBAS_000159" "g.15674702A>G" "" "" "" "NBAS(NM_015909.4):c.711T>C (p.H237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958867" "11" "70" "2" "15427231" "15427231" "del" "0" "00006" "NBAS_000094" "g.15427231del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.15287107del" "" "likely pathogenic (recessive)" "ACMG" "0000958868" "11" "70" "2" "15427231" "15427231" "del" "0" "00006" "NBAS_000094" "g.15427231del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.15287107del" "" "likely pathogenic (recessive)" "ACMG" "0000959303" "21" "50" "2" "15644342" "15644342" "subst" "0" "00006" "NBAS_000162" "g.15644342A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM3" "Germline" "" "" "0" "" "" "g.15504218A>T" "" "VUS" "ACMG" "0000959305" "21" "50" "2" "15644342" "15644342" "subst" "0" "00006" "NBAS_000162" "g.15644342A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM3" "Germline" "" "" "0" "" "" "g.15504218A>T" "" "VUS" "ACMG" "0000961366" "0" "30" "2" "15374803" "15374803" "subst" "0.000333084" "02330" "NBAS_000190" "g.15374803T>C" "" "" "" "NBAS(NM_015909.4):c.6012A>G (p.E2004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961367" "0" "30" "2" "15378727" "15378727" "subst" "0.000642376" "02330" "NBAS_000040" "g.15378727G>A" "" "" "" "NBAS(NM_015909.3):c.5808C>T (p.N1936=), NBAS(NM_015909.4):c.5808C>T (p.N1936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961368" "0" "30" "2" "15427217" "15427217" "subst" "0.00023559" "02330" "NBAS_000191" "g.15427217C>T" "" "" "" "NBAS(NM_015909.4):c.5118G>A (p.E1706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961369" "0" "30" "2" "15433027" "15433027" "subst" "0" "02329" "NBAS_000192" "g.15433027C>T" "" "" "" "NBAS(NM_015909.4):c.4798-137G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961370" "0" "30" "2" "15534391" "15534391" "subst" "0.00361517" "02329" "NBAS_000058" "g.15534391G>A" "" "" "" "NBAS(NM_015909.3):c.3217C>T (p.R1073C, p.(Arg1073Cys)), NBAS(NM_015909.4):c.3217C>T (p.R1073C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961371" "0" "30" "2" "15534481" "15534481" "subst" "0.000493736" "02330" "NBAS_000188" "g.15534481T>C" "" "" "" "NBAS(NM_015909.3):c.3135-8A>G (p.(=)), NBAS(NM_015909.4):c.3135-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961372" "0" "30" "2" "15608307" "15608307" "subst" "0" "02329" "NBAS_000193" "g.15608307T>G" "" "" "" "NBAS(NM_015909.4):c.1877+199A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961373" "0" "30" "2" "15651109" "15651109" "subst" "0" "02329" "NBAS_000194" "g.15651109C>T" "" "" "" "NBAS(NM_015909.4):c.885+227G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974343" "0" "30" "2" "15358890" "15358890" "subst" "8.12222E-6" "01804" "NBAS_000195" "g.15358890C>T" "" "" "" "NBAS(NM_015909.4):c.6432+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974344" "0" "50" "2" "15427225" "15427225" "subst" "0.00023153" "01804" "NBAS_000196" "g.15427225G>A" "" "" "" "NBAS(NM_015909.4):c.5110C>T (p.(His1704Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974345" "0" "50" "2" "15493843" "15493843" "subst" "4.08727E-5" "01804" "NBAS_000197" "g.15493843T>C" "" "" "" "NBAS(NM_015909.4):c.3932-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974346" "0" "30" "2" "15496424" "15496424" "subst" "1.62723E-5" "01804" "NBAS_000198" "g.15496424C>T" "" "" "" "NBAS(NM_015909.4):c.3931+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974348" "0" "30" "2" "15506882" "15506882" "subst" "0" "02329" "NBAS_000199" "g.15506882C>G" "" "" "" "NBAS(NM_015909.4):c.3704-65G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974349" "0" "30" "2" "15514832" "15514832" "subst" "0.000353615" "02329" "NBAS_000056" "g.15514832T>C" "" "" "" "NBAS(NM_015909.4):c.3603A>G (p.Q1201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974350" "0" "30" "2" "15519713" "15519713" "subst" "0.000561304" "02329" "NBAS_000176" "g.15519713A>G" "" "" "" "NBAS(NM_015909.4):c.3590+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974351" "0" "30" "2" "15536395" "15536395" "subst" "0" "02329" "NBAS_000200" "g.15536395T>C" "" "" "" "NBAS(NM_015909.4):c.3134+142A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974352" "0" "90" "2" "15555780" "15555780" "subst" "6.90467E-5" "01804" "NBAS_000011" "g.15555780C>A" "" "" "" "NBAS(NM_015909.3):c.2827G>T (p.(Glu943*)), NBAS(NM_015909.4):c.2827G>T (p.E943*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974353" "0" "30" "2" "15564612" "15564612" "subst" "0.00175404" "02330" "NBAS_000201" "g.15564612C>T" "" "" "" "NBAS(NM_015909.4):c.2424-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974354" "0" "50" "2" "15614352" "15614352" "subst" "0.000150325" "01804" "NBAS_000202" "g.15614352A>G" "" "" "" "NBAS(NM_015909.4):c.1438T>C (p.(Ser480Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974355" "0" "30" "2" "15614419" "15614419" "subst" "0.00119523" "02330" "NBAS_000183" "g.15614419A>C" "" "" "" "NBAS(NM_015909.4):c.1371T>G (p.S457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974356" "0" "30" "2" "15651182" "15651182" "subst" "0" "02329" "NBAS_000203" "g.15651182T>C" "" "" "" "NBAS(NM_015909.4):c.885+154A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974357" "0" "10" "2" "15694176" "15694176" "subst" "0.00318515" "02329" "NBAS_000204" "g.15694176C>G" "" "" "" "NBAS(NM_015909.4):c.287+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000974358" "0" "30" "2" "15698700" "15698700" "subst" "8.22801E-5" "01804" "NBAS_000205" "g.15698700T>G" "" "" "" "NBAS(NM_015909.4):c.172+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991678" "0" "30" "2" "15319147" "15319147" "subst" "0.00171021" "02329" "NBAS_000039" "g.15319147C>T" "" "" "" "NBAS(NM_015909.3):c.6805G>A (p.E2269K), NBAS(NM_015909.4):c.6805G>A (p.E2269K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991679" "0" "10" "2" "15564612" "15564612" "subst" "0.00175404" "02329" "NBAS_000201" "g.15564612C>T" "" "" "" "NBAS(NM_015909.4):c.2424-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013386" "0" "30" "2" "15432775" "15432775" "subst" "0.00296043" "02330" "NBAS_000049" "g.15432775C>T" "" "" "" "NBAS(NM_015909.3):c.4913G>A (p.R1638H), NBAS(NM_015909.4):c.4913G>A (p.R1638H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013387" "0" "30" "2" "15448469" "15448469" "subst" "0.000630404" "02330" "NBAS_000206" "g.15448469A>G" "" "" "" "NBAS(NM_015909.4):c.4668T>C (p.D1556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013388" "0" "10" "2" "15470848" "15470848" "subst" "0.0265627" "02327" "NBAS_000207" "g.15470848C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013389" "0" "30" "2" "15514863" "15514863" "del" "0" "02329" "NBAS_000175" "g.15514863del" "" "" "" "NBAS(NM_015909.4):c.3591-17delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013390" "0" "30" "2" "15519974" "15519974" "subst" "0.000644866" "02329" "NBAS_000208" "g.15519974T>C" "" "" "" "NBAS(NM_015909.4):c.3361-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022395" "1" "90" "2" "15307247" "15307249" "del" "0" "00006" "NBAS_000209" "g.15307247_15307249del" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PM3, PP1, PP4," "Germline" "" "" "0" "" "" "g.15167123_15167125del" "" "pathogenic" "" "0001022396" "1" "90" "2" "15307247" "15307249" "del" "0" "00006" "NBAS_000209" "g.15307247_15307249del" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PM3, PP1, PP4," "Germline" "" "" "0" "" "" "g.15167123_15167125del" "" "pathogenic" "" "0001022551" "2" "90" "2" "15506766" "15506766" "del" "0" "00006" "NBAS_000210" "g.15506766del" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PM3, PM4PP1, PP4," "Germline" "" "" "0" "" "" "g.15366642del" "" "pathogenic" "" "0001022552" "2" "90" "2" "15506766" "15506766" "del" "0" "00006" "NBAS_000210" "g.15506766del" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PM3, PM4PP1, PP4," "Germline" "" "" "0" "" "" "g.15366642del" "" "pathogenic" "" "0001024244" "0" "30" "2" "15519974" "15519974" "subst" "0.000644866" "02330" "NBAS_000208" "g.15519974T>C" "" "" "" "NBAS(NM_015909.4):c.3361-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032421" "0" "30" "2" "15374831" "15374831" "subst" "0.000532196" "01804" "NBAS_000112" "g.15374831C>T" "" "" "" "NBAS(NM_015909.3):c.5984G>A (p.R1995Q), NBAS(NM_015909.4):c.5984G>A (p.(Arg1995Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032422" "0" "70" "2" "15374832" "15374832" "subst" "1.21872E-5" "01804" "NBAS_000211" "g.15374832G>A" "" "" "" "NBAS(NM_015909.4):c.5983C>T (p.(Arg1995*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032423" "0" "50" "2" "15432826" "15432826" "subst" "0" "01804" "NBAS_000212" "g.15432826C>G" "" "" "" "NBAS(NM_015909.4):c.4862G>C (p.(Trp1621Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032424" "0" "90" "2" "15448384" "15448384" "subst" "4.06362E-6" "01804" "NBAS_000166" "g.15448384G>A" "" "" "" "NBAS(NM_015909.4):c.4753C>T (p.(Arg1585*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001032425" "0" "50" "2" "15448404" "15448404" "subst" "4.06392E-5" "01804" "NBAS_000213" "g.15448404T>C" "" "" "" "NBAS(NM_015909.4):c.4733A>G (p.(Tyr1578Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032426" "0" "50" "2" "15470732" "15470732" "subst" "3.6583E-5" "01804" "NBAS_000214" "g.15470732C>T" "" "" "" "NBAS(NM_015909.4):c.4337G>A (p.(Arg1446Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032427" "0" "30" "2" "15496430" "15496430" "subst" "0.00182222" "02327" "NBAS_000099" "g.15496430T>C" "" "" "" "NBAS(NM_015909.3):c.3928A>G (p.T1310A, p.(Thr1310Ala)), NBAS(NM_015909.4):c.3928A>G (p.T1310A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032428" "0" "50" "2" "15557824" "15557824" "dup" "0" "01804" "NBAS_000215" "g.15557824dup" "" "" "" "NBAS(NM_015909.4):c.2591dup (p.(Leu864Phefs*20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032429" "0" "50" "2" "15564443" "15564443" "subst" "8.12711E-6" "01804" "NBAS_000216" "g.15564443C>T" "" "" "" "NBAS(NM_015909.4):c.2573G>A (p.(Arg858Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032430" "0" "30" "2" "15564503" "15564503" "subst" "3.25103E-5" "01804" "NBAS_000217" "g.15564503G>A" "" "" "" "NBAS(NM_015909.4):c.2513C>T (p.(Thr838Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032431" "0" "70" "2" "15614262" "15614262" "subst" "2.03074E-5" "01804" "NBAS_000218" "g.15614262G>A" "" "" "" "NBAS(NM_015909.4):c.1528C>T (p.(Arg510Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032432" "0" "50" "2" "15618406" "15618406" "subst" "6.10839E-5" "01804" "NBAS_000219" "g.15618406T>C" "" "" "" "NBAS(NM_015909.4):c.1091A>G (p.(Tyr364Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032433" "0" "50" "2" "15651396" "15651396" "subst" "4.47205E-5" "01804" "NBAS_000220" "g.15651396T>G" "" "" "" "NBAS(NM_015909.4):c.825A>C (p.(Arg275Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032434" "0" "90" "2" "15674729" "15674729" "dup" "0" "01804" "NBAS_000019" "g.15674729dup" "" "" "" "NBAS(NM_015909.4):c.686dup (p.(Ser230GlnfsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050526" "0" "50" "2" "15534476" "15534476" "subst" "3.26158E-5" "01804" "NBAS_000221" "g.15534476A>G" "" "" "" "NBAS(NM_015909.4):c.3135-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050527" "0" "50" "2" "15629129" "15629129" "subst" "0" "01804" "NBAS_000222" "g.15629129C>T" "" "" "" "NBAS(NM_015909.4):c.972G>A (p.(Met324Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050528" "0" "50" "2" "15693546" "15693546" "subst" "4.06557E-6" "01804" "NBAS_000223" "g.15693546T>C" "" "" "" "NBAS(NM_015909.4):c.335+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063349" "0" "50" "2" "15701419" "15701419" "subst" "0" "01804" "NBAS_000224" "g.15701419G>T" "" "" "" "NBAS(NM_015909.4):c.10C>A (p.(Pro4Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NBAS ## Count = 319 "{{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}}" "0000011588" "00014309" "50" "3072" "-830" "3072" "-830" "c.3072-830C>T" "r.(=)" "p.(=)" "" "0000011589" "00014309" "50" "3072" "-1042" "3072" "-1042" "c.3072-1042A>G" "r.(=)" "p.(=)" "" "0000011590" "00014309" "50" "3072" "-1264" "3072" "-1264" "c.3072-1264A>G" "r.(=)" "p.(=)" "" "0000011591" "00014309" "50" "3072" "-1267" "3072" "-1267" "c.3072-1267G>T" "r.(=)" "p.(=)" "" "0000011592" "00014309" "50" "3072" "-1316" "3072" "-1316" "c.3072-1316G>A" "r.(=)" "p.(=)" "" "0000011593" "00014309" "50" "3072" "-1325" "3072" "-1325" "c.3072-1325C>G" "r.(=)" "p.(=)" "" "0000011594" "00014309" "50" "3072" "-1332" "3072" "-1332" "c.3072-1332C>G" "r.(=)" "p.(=)" "" "0000119724" "00014309" "90" "558" "0" "560" "0" "c.558_560del" "r.(?)" "p.(Ile187del)" "8" "0000119725" "00014309" "90" "686" "0" "686" "0" "c.686dup" "r.(?)" "p.(Ser230Glnfs*4)" "9" "0000119730" "00014309" "90" "2708" "0" "2708" "0" "c.2708T>G" "r.(?)" "p.(Leu903Arg)" "24" "0000119731" "00014309" "90" "603" "0" "605" "0" "c.603_605del" "r.(?)" "p.(Leu202del)" "8" "0000119732" "00014309" "90" "3164" "0" "3164" "0" "c.3164T>C" "r.(?)" "p.(Leu1055Pro)" "28" "0000119733" "00014309" "90" "2708" "0" "2708" "0" "c.2708T>G" "r.(?)" "p.(Leu903Arg)" "24" "0000119734" "00014309" "90" "2827" "0" "2827" "0" "c.2827G>T" "r.(?)" "p.(Glu943*)" "25" "0000119735" "00014309" "90" "3010" "0" "3010" "0" "c.3010C>T" "r.0" "p.0" "26" "0000119736" "00014309" "90" "3164" "0" "3164" "0" "c.3164T>C" "r.(?)" "p.(Leu1055Pro)" "28" "0000119737" "00014309" "90" "1533" "0" "1545" "0" "c.1533_1545del" "r.(?)" "p.(Ile512Thrfs*4)" "15" "0000119738" "00014309" "90" "2951" "0" "2951" "0" "c.2951T>G" "r.(?)" "p.(Ile984Ser)" "26" "0000119739" "00014309" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Pro348Ser)" "12" "0000119740" "00014309" "90" "2203" "-3" "2203" "-3" "c.2203-3C>G" "r.spl?" "p.?" "20i" "0000119741" "00014309" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Pro348Ser)" "12" "0000119742" "00014309" "90" "2203" "-3" "2203" "-3" "c.2203-3C>G" "r.spl?" "p.?" "20i" "0000119743" "00014309" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Trp396*)" "14" "0000119744" "00014309" "90" "2330" "0" "2330" "0" "c.2330C>A" "r.(?)" "p.(Pro777His)" "21" "0000119745" "00014309" "90" "118" "-2" "118" "-2" "c.118-2A>G" "r.spl" "p.?" "1i" "0000119746" "00014309" "90" "2524" "0" "2524" "0" "c.2524G>T" "r.(?)" "p.(Val842Phe)" "23" "0000119747" "00014309" "90" "686" "0" "686" "0" "c.686dup" "r.(?)" "p.(Ser230Glnfs*4)" "9" "0000119748" "00014309" "90" "3164" "0" "3164" "0" "c.3164T>C" "r.(?)" "p.(Leu1055Pro)" "28" "0000236388" "00014309" "90" "2950" "0" "2950" "0" "c.2950del" "r.(?)" "p.(Ile984Leufs*8)" "" "0000236389" "00014309" "50" "3158" "0" "3158" "0" "c.3158A>G" "r.(?)" "p.(His1053Arg)" "" "0000248497" "00014309" "10" "1242" "0" "1242" "0" "c.1242T>C" "r.(?)" "p.(Ser414=)" "" "0000296311" "00014309" "10" "1147" "11" "1147" "11" "c.1147+11C>T" "r.(=)" "p.(=)" "" "0000296312" "00014309" "10" "1148" "-9" "1148" "-9" "c.1148-9G>C" "r.(=)" "p.(=)" "" "0000296313" "00014309" "10" "1386" "0" "1386" "0" "c.1386A>G" "r.(?)" "p.(Arg462=)" "" "0000296314" "00014309" "10" "2223" "0" "2223" "0" "c.2223G>A" "r.(?)" "p.(Leu741=)" "" "0000296316" "00014309" "10" "514" "-11" "514" "-11" "c.514-11C>T" "r.(=)" "p.(=)" "" "0000296318" "00014309" "10" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Ala2074Thr)" "" "0000296319" "00014309" "10" "727" "0" "727" "0" "c.727A>G" "r.(?)" "p.(Ile243Val)" "" "0000298520" "00014309" "90" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Trp345Ter)" "" "0000509653" "00014309" "70" "6840" "0" "6840" "0" "c.6840G>A" "r.(?)" "p.(Thr2280=)" "" "0000509654" "00014309" "10" "6805" "0" "6805" "0" "c.6805G>A" "r.(?)" "p.(Glu2269Lys)" "" "0000509661" "00014309" "30" "5808" "0" "5808" "0" "c.5808C>T" "r.(?)" "p.(Asn1936=)" "" "0000509662" "00014309" "30" "5727" "0" "5727" "0" "c.5727G>C" "r.(?)" "p.(Leu1909=)" "" "0000509663" "00014309" "10" "5725" "-13" "5725" "-12" "c.5725-13_5725-12insAATT" "r.(=)" "p.(=)" "" "0000509664" "00014309" "50" "5467" "0" "5467" "0" "c.5467A>T" "r.(?)" "p.(Ile1823Phe)" "" "0000509665" "00014309" "50" "5467" "0" "5467" "0" "c.5467A>T" "r.(?)" "p.(Ile1823Phe)" "" "0000509666" "00014309" "50" "5465" "0" "5465" "0" "c.5465A>C" "r.(?)" "p.(Asn1822Thr)" "" "0000509667" "00014309" "50" "5465" "0" "5465" "0" "c.5465A>C" "r.(?)" "p.(Asn1822Thr)" "" "0000509668" "00014309" "10" "5440" "0" "5440" "0" "c.5440T>C" "r.(?)" "p.(Leu1814=)" "" "0000509669" "00014309" "10" "5390" "-17" "5390" "-14" "c.5390-17_5390-14del" "r.(=)" "p.(=)" "" "0000509670" "00014309" "50" "5075" "0" "5075" "0" "c.5075G>A" "r.(?)" "p.(Arg1692His)" "" "0000509671" "00014309" "30" "4968" "0" "4968" "0" "c.4968C>T" "r.(?)" "p.(Asp1656=)" "" "0000509672" "00014309" "30" "4913" "0" "4913" "0" "c.4913G>A" "r.(?)" "p.(Arg1638His)" "" "0000509673" "00014309" "50" "4737" "0" "4737" "0" "c.4737C>A" "r.(?)" "p.(Ser1579Arg)" "" "0000509674" "00014309" "10" "4659" "12" "4659" "12" "c.4659+12C>G" "r.(=)" "p.(=)" "" "0000509676" "00014309" "50" "4300" "0" "4300" "0" "c.4300G>A" "r.(?)" "p.(Asp1434Asn)" "" "0000509677" "00014309" "50" "4300" "0" "4300" "0" "c.4300G>A" "r.(?)" "p.(Asp1434Asn)" "" "0000509678" "00014309" "50" "4228" "0" "4228" "0" "c.4228A>G" "r.(?)" "p.(Thr1410Ala)" "" "0000509679" "00014309" "50" "3833" "0" "3833" "0" "c.3833A>G" "r.(?)" "p.(Glu1278Gly)" "" "0000509680" "00014309" "30" "3755" "0" "3755" "0" "c.3755C>A" "r.(?)" "p.(Ser1252Tyr)" "" "0000509681" "00014309" "50" "3603" "0" "3603" "0" "c.3603A>G" "r.(?)" "p.(Gln1201=)" "" "0000509682" "00014309" "30" "3282" "0" "3282" "0" "c.3282T>C" "r.(?)" "p.(His1094=)" "" "0000509686" "00014309" "50" "3217" "0" "3217" "0" "c.3217C>T" "r.(?)" "p.(Arg1073Cys)" "" "0000509687" "00014309" "30" "3026" "0" "3026" "0" "c.3026G>C" "r.(?)" "p.(Cys1009Ser)" "" "0000509688" "00014309" "30" "2859" "0" "2859" "0" "c.2859A>G" "r.(?)" "p.(Leu953=)" "" "0000509689" "00014309" "30" "2845" "0" "2845" "0" "c.2845G>C" "r.(?)" "p.(Val949Leu)" "" "0000509692" "00014309" "50" "2423" "11" "2423" "11" "c.2423+11G>A" "r.(=)" "p.(=)" "" "0000509693" "00014309" "50" "2186" "0" "2186" "0" "c.2186C>A" "r.(?)" "p.(Ala729Glu)" "" "0000509694" "00014309" "50" "2186" "0" "2186" "0" "c.2186C>A" "r.(?)" "p.(Ala729Glu)" "" "0000509695" "00014309" "10" "1964" "0" "1964" "0" "c.1964A>G" "r.(?)" "p.(Lys655Arg)" "" "0000509697" "00014309" "30" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Val568Ile)" "" "0000509698" "00014309" "50" "1573" "0" "1573" "0" "c.1573A>T" "r.(?)" "p.(Thr525Ser)" "" "0000509699" "00014309" "10" "1083" "4" "1083" "4" "c.1083+4C>T" "r.spl?" "p.?" "" "0000509701" "00014309" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Ala150=)" "" "0000509702" "00014309" "50" "320" "0" "320" "0" "c.320A>G" "r.(?)" "p.(Gln107Arg)" "" "0000509703" "00014309" "10" "287" "20" "287" "21" "c.287+20_287+21insT" "r.(=)" "p.(=)" "" "0000606141" "00014309" "50" "7096" "0" "7096" "0" "c.7096G>A" "r.(?)" "p.(Ala2366Thr)" "" "0000606142" "00014309" "50" "6781" "0" "6781" "0" "c.6781G>A" "r.(?)" "p.(Glu2261Lys)" "" "0000606145" "00014309" "90" "6237" "-3" "6237" "-3" "c.6237-3C>G" "r.spl?" "p.?" "" "0000606146" "00014309" "50" "4798" "0" "4798" "0" "c.4798G>A" "r.(?)" "p.(Ala1600Thr)" "" "0000606148" "00014309" "30" "3931" "16" "3931" "16" "c.3931+16A>G" "r.(=)" "p.(=)" "" "0000606149" "00014309" "30" "3282" "0" "3282" "0" "c.3282T>C" "r.(?)" "p.(His1094=)" "" "0000606150" "00014309" "90" "2236" "0" "2236" "0" "c.2236dup" "r.(?)" "p.(Thr746AsnfsTer26)" "" "0000620739" "00014309" "50" "7010" "0" "7010" "0" "c.7010C>T" "r.(?)" "p.(Ala2337Val)" "" "0000620740" "00014309" "10" "5725" "-13" "5725" "-12" "c.5725-13_5725-12insAATT" "r.(=)" "p.(=)" "" "0000620741" "00014309" "30" "5440" "0" "5440" "0" "c.5440T>C" "r.(?)" "p.(Leu1814=)" "" "0000620742" "00014309" "10" "4847" "0" "4847" "0" "c.4847A>G" "r.(?)" "p.(His1616Arg)" "" "0000620743" "00014309" "30" "3755" "0" "3755" "0" "c.3755C>A" "r.(?)" "p.(Ser1252Tyr)" "" "0000620744" "00014309" "10" "3704" "-15" "3704" "-15" "c.3704-15G>A" "r.(=)" "p.(=)" "" "0000620745" "00014309" "30" "3217" "0" "3217" "0" "c.3217C>T" "r.(?)" "p.(Arg1073Cys)" "" "0000620746" "00014309" "10" "2223" "0" "2223" "0" "c.2223G>A" "r.(?)" "p.(Leu741=)" "" "0000620747" "00014309" "10" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(Gln710=)" "" "0000620748" "00014309" "10" "1964" "0" "1964" "0" "c.1964A>G" "r.(?)" "p.(Lys655Arg)" "" "0000620749" "00014309" "10" "1386" "0" "1386" "0" "c.1386A>G" "r.(?)" "p.(Arg462=)" "" "0000620750" "00014309" "10" "1242" "0" "1242" "0" "c.1242T>C" "r.(?)" "p.(Ser414=)" "" "0000620751" "00014309" "10" "1148" "-9" "1148" "-9" "c.1148-9G>C" "r.(=)" "p.(=)" "" "0000620752" "00014309" "10" "1147" "11" "1147" "11" "c.1147+11C>T" "r.(=)" "p.(=)" "" "0000620753" "00014309" "10" "727" "0" "727" "0" "c.727A>G" "r.(?)" "p.(Ile243Val)" "" "0000620754" "00014309" "10" "514" "-11" "514" "-11" "c.514-11C>T" "r.(=)" "p.(=)" "" "0000620755" "00014309" "10" "287" "20" "287" "21" "c.287+20_287+21insT" "r.(=)" "p.(=)" "" "0000626340" "00014309" "90" "686" "0" "686" "0" "c.686dup" "r.(?)" "p.(Ser230Glnfs*4)" "9" "0000626342" "00014309" "90" "2411" "0" "2411" "0" "c.2411A>G" "r.(?)" "p.(Glu804Gly)" "22" "0000628272" "00014309" "50" "4692" "0" "4692" "0" "c.4692G>T" "r.(?)" "p.(Gln1564His)" "" "0000654217" "00014309" "30" "6932" "0" "6932" "0" "c.6932G>A" "r.(?)" "p.(Arg2311His)" "" "0000654218" "00014309" "50" "6856" "0" "6858" "0" "c.6856_6858dup" "r.(?)" "p.(Cys2286dup)" "" "0000654219" "00014309" "50" "6311" "0" "6311" "0" "c.6311G>A" "r.(?)" "p.(Arg2104Gln)" "" "0000654220" "00014309" "30" "5964" "0" "5964" "0" "c.5964T>C" "r.(?)" "p.(Ser1988=)" "" "0000654221" "00014309" "30" "4659" "12" "4659" "12" "c.4659+12C>G" "r.(=)" "p.(=)" "" "0000654222" "00014309" "50" "4228" "0" "4228" "0" "c.4228A>G" "r.(?)" "p.(Thr1410Ala)" "" "0000654223" "00014309" "30" "2937" "6" "2937" "6" "c.2937+6T>G" "r.(=)" "p.(=)" "" "0000654224" "00014309" "30" "1686" "0" "1686" "0" "c.1686G>A" "r.(?)" "p.(Arg562=)" "" "0000654225" "00014309" "30" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(Ser432=)" "" "0000666144" "00014309" "90" "5104" "0" "5104" "0" "c.5104del" "r.(?)" "p.(Met1702*)" "" "0000676041" "00014309" "50" "6277" "0" "6277" "0" "c.6277C>T" "r.(?)" "p.(Arg2093Trp)" "" "0000676042" "00014309" "30" "5268" "0" "5268" "0" "c.5268C>T" "r.(?)" "p.(His1756=)" "" "0000676043" "00014309" "30" "5090" "0" "5090" "0" "c.5090G>T" "r.(?)" "p.(Arg1697Leu)" "" "0000676045" "00014309" "50" "4787" "0" "4787" "0" "c.4787C>G" "r.(?)" "p.(Pro1596Arg)" "" "0000676046" "00014309" "30" "3928" "0" "3928" "0" "c.3928A>G" "r.(?)" "p.(Thr1310Ala)" "" "0000676047" "00014309" "50" "3502" "0" "3502" "0" "c.3502G>A" "r.(?)" "p.(Glu1168Lys)" "" "0000676048" "00014309" "30" "2423" "11" "2423" "11" "c.2423+11G>A" "r.(=)" "p.(=)" "" "0000676049" "00014309" "50" "1173" "0" "1173" "0" "c.1173A>G" "r.(?)" "p.(Ile391Met)" "" "0000688344" "00014309" "30" "6876" "0" "6876" "0" "c.6876C>G" "r.(?)" "p.(Ser2292=)" "" "0000688345" "00014309" "50" "6091" "0" "6091" "0" "c.6091A>T" "r.(?)" "p.(Ile2031Phe)" "" "0000688346" "00014309" "50" "5425" "0" "5425" "0" "c.5425A>C" "r.(?)" "p.(Ser1809Arg)" "" "0000688347" "00014309" "30" "5175" "0" "5175" "0" "c.5175C>T" "r.(?)" "p.(Asp1725=)" "" "0000688348" "00014309" "50" "4228" "0" "4228" "0" "c.4228A>G" "r.(?)" "p.(Thr1410Ala)" "" "0000688349" "00014309" "30" "3928" "0" "3928" "0" "c.3928A>G" "r.(?)" "p.(Thr1310Ala)" "" "0000688350" "00014309" "50" "2116" "0" "2116" "0" "c.2116C>T" "r.(?)" "p.(His706Tyr)" "" "0000688351" "00014309" "30" "1614" "0" "1614" "0" "c.1614G>A" "r.(?)" "p.(Glu538=)" "" "0000688352" "00014309" "50" "607" "0" "607" "0" "c.607G>C" "r.(?)" "p.(Val203Leu)" "" "0000688353" "00014309" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Ser180=)" "" "0000714569" "00014309" "50" "3407" "0" "3407" "0" "c.3407A>T" "r.(?)" "p.(His1136Leu)" "" "0000714570" "00014309" "50" "1648" "0" "1648" "0" "c.1648G>T" "r.(?)" "p.(Gly550Cys)" "" "0000717886" "00014309" "50" "5984" "0" "5984" "0" "c.5984G>A" "r.(?)" "p.(Arg1995Gln)" "" "0000717887" "00014309" "30" "5808" "0" "5808" "0" "c.5808C>T" "r.(?)" "p.(Asn1936=)" "" "0000717888" "00014309" "30" "5796" "0" "5796" "0" "c.5796A>G" "r.(?)" "p.(Pro1932=)" "" "0000717889" "00014309" "30" "5440" "0" "5440" "0" "c.5440T>C" "r.(?)" "p.(Leu1814=)" "" "0000717890" "00014309" "50" "5099" "0" "5099" "0" "c.5099T>G" "r.(?)" "p.(Val1700Gly)" "" "0000717891" "00014309" "30" "5090" "0" "5090" "0" "c.5090G>A" "r.(?)" "p.(Arg1697His)" "" "0000717892" "00014309" "30" "4847" "0" "4847" "0" "c.4847A>G" "r.(?)" "p.(His1616Arg)" "" "0000717893" "00014309" "70" "4731" "0" "4733" "0" "c.4731_4733dup" "r.(?)" "p.(Tyr1578dup)" "" "0000717894" "00014309" "50" "4724" "0" "4724" "0" "c.4724C>T" "r.(?)" "p.(Ala1575Val)" "" "0000717895" "00014309" "50" "3067" "0" "3067" "0" "c.3067T>C" "r.(?)" "p.(Tyr1023His)" "" "0000717896" "00014309" "90" "2578" "-1" "2578" "-1" "c.2578-1G>T" "r.spl?" "p.?" "" "0000717897" "00014309" "50" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Arg686Trp)" "" "0000717898" "00014309" "30" "1878" "-7" "1878" "-7" "c.1878-7C>A" "r.(=)" "p.(=)" "" "0000717899" "00014309" "50" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313Cys)" "" "0000759993" "00014309" "50" "2116" "0" "2116" "0" "c.2116C>T" "r.(?)" "p.(His706Tyr)" "" "0000760033" "00014309" "50" "6466" "0" "6466" "0" "c.6466dup" "r.(?)" "p.(Arg2156Profs*12)" "" "0000760038" "00014309" "50" "5465" "0" "5465" "0" "c.5465A>C" "r.(?)" "p.(Asn1822Thr)" "" "0000764134" "00014309" "30" "2578" "-2521" "2578" "-2521" "c.2578-2521G>A" "r.?" "p.?" "23i" "0000793915" "00014309" "70" "5740" "0" "5740" "0" "c.5740C>T" "r.(?)" "p.(Arg1914Cys)" "" "0000793916" "00014309" "70" "3494" "0" "3494" "0" "c.3494del" "r.(?)" "p.(Val1165Alafs*31)" "" "0000799719" "00014309" "50" "6311" "0" "6311" "0" "c.6311G>A" "r.(?)" "p.(Arg2104Gln)" "" "0000799720" "00014309" "30" "6219" "0" "6219" "0" "c.6219C>T" "r.(?)" "p.(His2073=)" "" "0000799721" "00014309" "50" "6004" "0" "6004" "0" "c.6004C>T" "r.(?)" "p.(His2002Tyr)" "" "0000799722" "00014309" "50" "5279" "0" "5279" "0" "c.5279A>T" "r.(?)" "p.(Gln1760Leu)" "" "0000799723" "00014309" "30" "4968" "0" "4968" "0" "c.4968C>T" "r.(?)" "p.(Asp1656=)" "" "0000799724" "00014309" "30" "4913" "0" "4913" "0" "c.4913G>A" "r.(?)" "p.(Arg1638His)" "" "0000799726" "00014309" "30" "4377" "0" "4377" "0" "c.4377C>T" "r.(?)" "p.(Ile1459=)" "" "0000799727" "00014309" "30" "3928" "0" "3928" "0" "c.3928A>G" "r.(?)" "p.(Thr1310Ala)" "" "0000799728" "00014309" "30" "3787" "0" "3787" "0" "c.3787C>T" "r.(?)" "p.(Leu1263=)" "" "0000799729" "00014309" "70" "3363" "0" "3363" "0" "c.3363A>G" "r.(?)" "p.(Ile1121Met)" "" "0000799730" "00014309" "70" "3071" "1" "3071" "1" "c.3071+1G>A" "r.spl?" "p.?" "" "0000799731" "00014309" "50" "2750" "0" "2750" "0" "c.2750T>C" "r.(?)" "p.(Leu917Ser)" "" "0000799732" "00014309" "30" "1980" "0" "1980" "0" "c.1980G>A" "r.(?)" "p.(Lys660=)" "" "0000799733" "00014309" "50" "1919" "0" "1919" "0" "c.1919A>T" "r.(?)" "p.(Tyr640Phe)" "" "0000799734" "00014309" "10" "1093" "0" "1093" "0" "c.1093G>C" "r.(?)" "p.(Asp365His)" "" "0000799735" "00014309" "50" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Lys265Glu)" "" "0000799736" "00014309" "30" "648" "-7" "648" "-7" "c.648-7A>T" "r.(=)" "p.(=)" "" "0000799737" "00014309" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000848968" "00014309" "30" "7029" "0" "7029" "0" "c.7029C>T" "r.(?)" "p.(Ala2343=)" "" "0000848969" "00014309" "30" "6932" "0" "6932" "0" "c.6932G>A" "r.(?)" "p.(Arg2311His)" "" "0000848970" "00014309" "90" "6667" "0" "6667" "0" "c.6667del" "r.(?)" "p.(Met2223Cysfs*17)" "" "0000848971" "00014309" "30" "6345" "0" "6345" "0" "c.6345A>G" "r.(?)" "p.(Gln2115=)" "" "0000848972" "00014309" "30" "6258" "0" "6258" "0" "c.6258G>A" "r.(?)" "p.(Glu2086=)" "" "0000848973" "00014309" "30" "4913" "0" "4913" "0" "c.4913G>A" "r.(?)" "p.(Arg1638His)" "" "0000848974" "00014309" "50" "4833" "0" "4833" "0" "c.4833G>C" "r.(?)" "p.(Arg1611Ser)" "" "0000848976" "00014309" "10" "4659" "12" "4659" "12" "c.4659+12C>G" "r.(=)" "p.(=)" "" "0000848977" "00014309" "30" "4223" "0" "4223" "0" "c.4223G>A" "r.(?)" "p.(Arg1408His)" "" "0000848978" "00014309" "30" "3708" "0" "3708" "0" "c.3708A>G" "r.(?)" "p.(Arg1236=)" "" "0000848979" "00014309" "10" "3282" "0" "3282" "0" "c.3282T>C" "r.(?)" "p.(His1094=)" "" "0000848980" "00014309" "50" "2048" "0" "2048" "0" "c.2048G>A" "r.(?)" "p.(Arg683His)" "" "0000848981" "00014309" "10" "711" "0" "711" "0" "c.711T>C" "r.(?)" "p.(His237=)" "" "0000848982" "00014309" "30" "648" "-7" "648" "-7" "c.648-7A>T" "r.(=)" "p.(=)" "" "0000848983" "00014309" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Ala150=)" "" "0000848984" "00014309" "30" "219" "0" "219" "0" "c.219T>C" "r.(?)" "p.(Pro73=)" "" "0000857771" "00014309" "90" "6923" "0" "6927" "0" "c.6923_6927del" "r.(?)" "p.(Phe2308Serfs*5)" "" "0000857772" "00014309" "90" "6918" "0" "6919" "0" "c.6918_6919del" "r.(?)" "p.(Pro2307Leufs*7)" "" "0000857773" "00014309" "30" "5808" "0" "5808" "0" "c.5808C>T" "r.(?)" "p.(Asn1936=)" "" "0000857774" "00014309" "50" "5649" "0" "5649" "0" "c.5649C>T" "r.(?)" "p.(Tyr1883=)" "" "0000857776" "00014309" "50" "4180" "-13" "4180" "-7" "c.4180-13_4180-7del" "r.(=)" "p.(=)" "" "0000857777" "00014309" "50" "3997" "0" "3997" "0" "c.3997A>G" "r.(?)" "p.(Thr1333Ala)" "" "0000857778" "00014309" "50" "3577" "0" "3577" "0" "c.3577A>G" "r.(?)" "p.(Met1193Val)" "" "0000857779" "00014309" "30" "3217" "0" "3217" "0" "c.3217C>T" "r.(?)" "p.(Arg1073Cys)" "" "0000857780" "00014309" "10" "3134" "15" "3134" "15" "c.3134+15A>G" "r.(=)" "p.(=)" "" "0000857781" "00014309" "30" "2442" "0" "2442" "0" "c.2442T>C" "r.(?)" "p.(Asn814=)" "" "0000857782" "00014309" "30" "2256" "0" "2256" "0" "c.2256G>C" "r.(?)" "p.(Leu752=)" "" "0000857783" "00014309" "10" "2108" "0" "2108" "0" "c.2108G>C" "r.(?)" "p.(Gly703Ala)" "" "0000857784" "00014309" "30" "1239" "0" "1239" "0" "c.1239A>G" "r.(?)" "p.(Ser413=)" "" "0000857785" "00014309" "70" "1229" "0" "1229" "0" "c.1229dup" "r.(?)" "p.(Leu410Phefs*18)" "" "0000857786" "00014309" "30" "711" "0" "711" "0" "c.711T>C" "r.(?)" "p.(His237=)" "" "0000857787" "00014309" "50" "656" "0" "656" "0" "c.656C>G" "r.(?)" "p.(Thr219Arg)" "" "0000857788" "00014309" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Ser180=)" "" "0000874101" "00014309" "90" "886" "-5" "886" "-5" "c.886-5T>A" "r.[886_954del,885_886inscag]" "p.[Val296_Gln318del,Ala295_Val296insGln]" "10i" "0000883775" "00014309" "30" "7104" "0" "7104" "0" "c.7104G>A" "r.(?)" "p.(Gln2368=)" "" "0000883776" "00014309" "50" "7024" "0" "7024" "0" "c.7024G>A" "r.(?)" "p.(Glu2342Lys)" "" "0000883777" "00014309" "30" "6805" "0" "6805" "0" "c.6805G>A" "r.(?)" "p.(Glu2269Lys)" "" "0000883778" "00014309" "30" "5562" "0" "5562" "0" "c.5562G>A" "r.(?)" "p.(Leu1854=)" "" "0000883779" "00014309" "50" "5279" "0" "5279" "0" "c.5279A>T" "r.(?)" "p.(Gln1760Leu)" "" "0000883780" "00014309" "10" "4913" "0" "4913" "0" "c.4913G>A" "r.(?)" "p.(Arg1638His)" "" "0000883781" "00014309" "10" "4847" "0" "4847" "0" "c.4847A>G" "r.(?)" "p.(His1616Arg)" "" "0000883784" "00014309" "90" "4753" "0" "4753" "0" "c.4753C>T" "r.(?)" "p.(Arg1585*)" "" "0000883785" "00014309" "50" "4228" "0" "4228" "0" "c.4228A>G" "r.(?)" "p.(Thr1410Ala)" "" "0000883786" "00014309" "30" "3997" "0" "3997" "0" "c.3997A>G" "r.(?)" "p.(Thr1333Ala)" "" "0000883787" "00014309" "10" "3755" "0" "3755" "0" "c.3755C>A" "r.(?)" "p.(Ser1252Tyr)" "" "0000883788" "00014309" "10" "3704" "-15" "3704" "-15" "c.3704-15G>A" "r.(=)" "p.(=)" "" "0000883789" "00014309" "30" "3489" "0" "3489" "0" "c.3489C>T" "r.(?)" "p.(Tyr1163=)" "" "0000883790" "00014309" "30" "3198" "0" "3198" "0" "c.3198A>G" "r.(?)" "p.(Gln1066=)" "" "0000883791" "00014309" "30" "3180" "0" "3180" "0" "c.3180A>T" "r.(?)" "p.(Ser1060=)" "" "0000883792" "00014309" "90" "2827" "0" "2827" "0" "c.2827G>T" "r.(?)" "p.(Glu943*)" "" "0000883793" "00014309" "30" "2781" "0" "2781" "0" "c.2781T>C" "r.(?)" "p.(Tyr927=)" "" "0000883794" "00014309" "30" "2743" "0" "2743" "0" "c.2743C>T" "r.(?)" "p.(Leu915=)" "" "0000883795" "00014309" "10" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(Gln710=)" "" "0000883796" "00014309" "30" "2116" "0" "2116" "0" "c.2116C>T" "r.(?)" "p.(His706Tyr)" "" "0000883797" "00014309" "10" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Pro650Ser)" "" "0000883798" "00014309" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Ala150=)" "" "0000908863" "00014309" "90" "5028" "-86" "5138" "19" "c.(?_5028-86)_(5138+19_?)dup" "r.?" "p.?" "" "0000908929" "00014309" "90" "409" "0" "409" "0" "c.409C>T" "r.409c>u" "p.Arg137Trp" "" "0000908945" "00014309" "90" "1342" "-53" "1580" "0" "c.(?_1342-53)_(1580_?)dup" "r.0" "p.0" "" "0000909188" "00014309" "90" "5104" "0" "5104" "0" "c.5104del" "r.5104del" "p.Met1702*" "" "0000911197" "00014309" "30" "3928" "0" "3928" "0" "c.3928A>G" "r.(?)" "p.(Thr1310Ala)" "" "0000911198" "00014309" "30" "3591" "-17" "3591" "-17" "c.3591-17del" "r.(=)" "p.(=)" "" "0000911199" "00014309" "30" "3590" "13" "3590" "13" "c.3590+13T>C" "r.(=)" "p.(=)" "" "0000911200" "00014309" "30" "3217" "0" "3217" "0" "c.3217C>T" "r.(?)" "p.(Arg1073Cys)" "" "0000911201" "00014309" "30" "2423" "11" "2423" "11" "c.2423+11G>A" "r.(=)" "p.(=)" "" "0000911202" "00014309" "30" "672" "0" "672" "0" "c.672A>G" "r.(?)" "p.(Gln224=)" "" "0000911203" "00014309" "30" "130" "0" "130" "0" "c.130C>G" "r.(?)" "p.(Gln44Glu)" "" "0000923304" "00014309" "30" "6712" "-7" "6712" "-7" "c.6712-7G>A" "r.(=)" "p.(=)" "" "0000923305" "00014309" "10" "5440" "0" "5440" "0" "c.5440T>C" "r.(?)" "p.(Leu1814=)" "" "0000923306" "00014309" "30" "4599" "0" "4599" "0" "c.4599A>C" "r.(?)" "p.(Ala1533=)" "" "0000923307" "00014309" "30" "4481" "0" "4481" "0" "c.4481C>T" "r.(?)" "p.(Thr1494Ile)" "" "0000923308" "00014309" "30" "2885" "0" "2885" "0" "c.2885C>G" "r.(?)" "p.(Ala962Gly)" "" "0000923309" "00014309" "30" "2442" "0" "2442" "0" "c.2442T>C" "r.(?)" "p.(Asn814=)" "" "0000923310" "00014309" "50" "2116" "0" "2116" "0" "c.2116C>T" "r.(?)" "p.(His706Tyr)" "" "0000923311" "00014309" "10" "1371" "0" "1371" "0" "c.1371T>G" "r.(?)" "p.(Ser457=)" "" "0000928274" "00014309" "30" "7096" "0" "7096" "0" "c.7096G>A" "r.(?)" "p.(Ala2366Thr)" "" "0000928275" "00014309" "90" "5547" "0" "5547" "0" "c.5547del" "r.(?)" "p.(Trp1850Glyfs*32)" "" "0000928276" "00014309" "30" "4296" "0" "4296" "0" "c.4296C>T" "r.(?)" "p.(=)" "" "0000928277" "00014309" "30" "3217" "0" "3217" "0" "c.3217C>T" "r.(?)" "p.(Arg1073Cys)" "" "0000928278" "00014309" "10" "3134" "15" "3134" "15" "c.3134+15A>G" "r.(=)" "p.(=)" "" "0000928279" "00014309" "30" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(Ser432=)" "" "0000928280" "00014309" "10" "648" "-14" "648" "-14" "c.648-14C>T" "r.(=)" "p.(=)" "" "0000928281" "00014309" "10" "130" "0" "130" "0" "c.130C>G" "r.(?)" "p.(Gln44Glu)" "" "0000947361" "00014309" "30" "6876" "0" "6876" "0" "c.6876C>G" "r.(?)" "p.(Ser2292=)" "" "0000947362" "00014309" "30" "5268" "0" "5268" "0" "c.5268C>T" "r.(?)" "p.(His1756=)" "" "0000947363" "00014309" "30" "4358" "0" "4358" "0" "c.4358G>A" "r.(?)" "p.(Cys1453Tyr)" "" "0000947364" "00014309" "30" "3928" "0" "3928" "0" "c.3928A>G" "r.(?)" "p.(Thr1310Ala)" "" "0000947365" "00014309" "30" "3135" "-8" "3135" "-8" "c.3135-8A>G" "r.(=)" "p.(=)" "" "0000947366" "00014309" "30" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Val568Ile)" "" "0000947367" "00014309" "30" "747" "-16" "747" "-16" "c.747-16A>T" "r.(=)" "p.(=)" "" "0000947368" "00014309" "30" "711" "0" "711" "0" "c.711T>C" "r.(?)" "p.(His237=)" "" "0000958867" "00014309" "70" "5104" "0" "5104" "0" "c.5104del" "r.(?)" "p.(Met1702Ter)" "" "0000958868" "00014309" "70" "5104" "0" "5104" "0" "c.5104del" "r.(?)" "p.(Met1702Ter)" "" "0000959303" "00014309" "50" "886" "-5" "886" "-5" "c.886-5T>A" "r.spl?" "p.?" "" "0000959305" "00014309" "50" "886" "-5" "886" "-5" "c.886-5T>A" "r.spl?" "p.?" "" "0000961366" "00014309" "30" "6012" "0" "6012" "0" "c.6012A>G" "r.(?)" "p.(=)" "" "0000961367" "00014309" "30" "5808" "0" "5808" "0" "c.5808C>T" "r.(?)" "p.(Asn1936=)" "" "0000961368" "00014309" "30" "5118" "0" "5118" "0" "c.5118G>A" "r.(?)" "p.(=)" "" "0000961369" "00014309" "30" "4798" "-137" "4798" "-137" "c.4798-137G>A" "r.(=)" "p.(=)" "" "0000961370" "00014309" "30" "3217" "0" "3217" "0" "c.3217C>T" "r.(?)" "p.(Arg1073Cys)" "" "0000961371" "00014309" "30" "3135" "-8" "3135" "-8" "c.3135-8A>G" "r.(=)" "p.(=)" "" "0000961372" "00014309" "30" "1877" "199" "1877" "199" "c.1877+199A>C" "r.(=)" "p.(=)" "" "0000961373" "00014309" "30" "885" "227" "885" "227" "c.885+227G>A" "r.(=)" "p.(=)" "" "0000974343" "00014309" "30" "6432" "7" "6432" "7" "c.6432+7G>A" "r.(=)" "p.(=)" "" "0000974344" "00014309" "50" "5110" "0" "5110" "0" "c.5110C>T" "r.(?)" "p.(His1704Tyr)" "" "0000974345" "00014309" "50" "3932" "-9" "3932" "-9" "c.3932-9A>G" "r.(=)" "p.(=)" "" "0000974346" "00014309" "30" "3931" "3" "3931" "3" "c.3931+3G>A" "r.spl?" "p.?" "" "0000974348" "00014309" "30" "3704" "-65" "3704" "-65" "c.3704-65G>C" "r.(=)" "p.(=)" "" "0000974349" "00014309" "30" "3603" "0" "3603" "0" "c.3603A>G" "r.(?)" "p.(Gln1201=)" "" "0000974350" "00014309" "30" "3590" "13" "3590" "13" "c.3590+13T>C" "r.(=)" "p.(=)" "" "0000974351" "00014309" "30" "3134" "142" "3134" "142" "c.3134+142A>G" "r.(=)" "p.(=)" "" "0000974352" "00014309" "90" "2827" "0" "2827" "0" "c.2827G>T" "r.(?)" "p.(Glu943*)" "" "0000974353" "00014309" "30" "2424" "-20" "2424" "-20" "c.2424-20G>A" "r.(=)" "p.(=)" "" "0000974354" "00014309" "50" "1438" "0" "1438" "0" "c.1438T>C" "r.(?)" "p.(Ser480Pro)" "" "0000974355" "00014309" "30" "1371" "0" "1371" "0" "c.1371T>G" "r.(?)" "p.(Ser457=)" "" "0000974356" "00014309" "30" "885" "154" "885" "154" "c.885+154A>G" "r.(=)" "p.(=)" "" "0000974357" "00014309" "10" "287" "9" "287" "9" "c.287+9G>C" "r.(=)" "p.(=)" "" "0000974358" "00014309" "30" "172" "4" "172" "4" "c.172+4A>C" "r.spl?" "p.?" "" "0000991678" "00014309" "30" "6805" "0" "6805" "0" "c.6805G>A" "r.(?)" "p.(Glu2269Lys)" "" "0000991679" "00014309" "10" "2424" "-20" "2424" "-20" "c.2424-20G>A" "r.(=)" "p.(=)" "" "0001013386" "00014309" "30" "4913" "0" "4913" "0" "c.4913G>A" "r.(?)" "p.(Arg1638His)" "" "0001013387" "00014309" "30" "4668" "0" "4668" "0" "c.4668T>C" "r.(?)" "p.(=)" "" "0001013388" "00014309" "10" "4221" "0" "4221" "0" "c.4221G>A" "r.(?)" "p.(=)" "" "0001013389" "00014309" "30" "3591" "-17" "3591" "-17" "c.3591-17del" "r.(=)" "p.(=)" "" "0001013390" "00014309" "30" "3361" "-19" "3361" "-19" "c.3361-19A>G" "r.(=)" "p.(=)" "" "0001022395" "00014309" "90" "7041" "0" "7043" "0" "c.7041_7043del" "r.(?)" "p.(Leu2348del)" "" "0001022396" "00014309" "90" "7041" "0" "7043" "0" "c.7041_7043del" "r.(?)" "p.(Leu2348del)" "" "0001022551" "00014309" "90" "3759" "0" "3759" "0" "c.3759del" "r.(?)" "p.(Thr1254HisfsTer16)" "" "0001022552" "00014309" "90" "3759" "0" "3759" "0" "c.3759del" "r.(?)" "p.(Thr1254HisfsTer16)" "" "0001024244" "00014309" "30" "3361" "-19" "3361" "-19" "c.3361-19A>G" "r.(=)" "p.(=)" "" "0001032421" "00014309" "30" "5984" "0" "5984" "0" "c.5984G>A" "r.(?)" "p.(Arg1995Gln)" "" "0001032422" "00014309" "70" "5983" "0" "5983" "0" "c.5983C>T" "r.(?)" "p.(Arg1995*)" "" "0001032423" "00014309" "50" "4862" "0" "4862" "0" "c.4862G>C" "r.(?)" "p.(Trp1621Ser)" "" "0001032424" "00014309" "90" "4753" "0" "4753" "0" "c.4753C>T" "r.(?)" "p.(Arg1585*)" "" "0001032425" "00014309" "50" "4733" "0" "4733" "0" "c.4733A>G" "r.(?)" "p.(Tyr1578Cys)" "" "0001032426" "00014309" "50" "4337" "0" "4337" "0" "c.4337G>A" "r.(?)" "p.(Arg1446Gln)" "" "0001032427" "00014309" "30" "3928" "0" "3928" "0" "c.3928A>G" "r.(?)" "p.(Thr1310Ala)" "" "0001032428" "00014309" "50" "2591" "0" "2591" "0" "c.2591dup" "r.(?)" "p.(Leu864Phefs*20)" "" "0001032429" "00014309" "50" "2573" "0" "2573" "0" "c.2573G>A" "r.(?)" "p.(Arg858Gln)" "" "0001032430" "00014309" "30" "2513" "0" "2513" "0" "c.2513C>T" "r.(?)" "p.(Thr838Met)" "" "0001032431" "00014309" "70" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Arg510*)" "" "0001032432" "00014309" "50" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Tyr364Cys)" "" "0001032433" "00014309" "50" "825" "0" "825" "0" "c.825A>C" "r.(?)" "p.(Arg275Ser)" "" "0001032434" "00014309" "90" "686" "0" "686" "0" "c.686dup" "r.(?)" "p.(Ser230Glnfs*4)" "" "0001050526" "00014309" "50" "3135" "-3" "3135" "-3" "c.3135-3T>C" "r.spl?" "p.?" "" "0001050527" "00014309" "50" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Met324Ile)" "" "0001050528" "00014309" "50" "335" "4" "335" "4" "c.335+4A>G" "r.spl?" "p.?" "" "0001063349" "00014309" "50" "10" "0" "10" "0" "c.10C>A" "r.(?)" "p.(Pro4Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{variantid}}" "0000000210" "0000011588" "0000000210" "0000011589" "0000000210" "0000011590" "0000000210" "0000011591" "0000000210" "0000011592" "0000000210" "0000011593" "0000000210" "0000011594" "0000074682" "0000119724" "0000074682" "0000119725" "0000074685" "0000119730" "0000074686" "0000119731" "0000074686" "0000119732" "0000074687" "0000119733" "0000074687" "0000119734" "0000074688" "0000119735" "0000074688" "0000119736" "0000074689" "0000119737" "0000074689" "0000119738" "0000074690" "0000119739" "0000074690" "0000119740" "0000074691" "0000119741" "0000074691" "0000119742" "0000074692" "0000119743" "0000074692" "0000119744" "0000074693" "0000119745" "0000074693" "0000119746" "0000074694" "0000119747" "0000074694" "0000119748" "0000145289" "0000236388" "0000145289" "0000236389" "0000272450" "0000626340" "0000272450" "0000626342" "0000274321" "0000628272" "0000302790" "0000666144" "0000330063" "0000714569" "0000330063" "0000714570" "0000360190" "0000759993" "0000360202" "0000760033" "0000360203" "0000760038" "0000363468" "0000764134" "0000380736" "0000793915" "0000380736" "0000793916" "0000416073" "0000874101" "0000416073" "0000909188" "0000429390" "0000908863" "0000429390" "0000908929" "0000429390" "0000908945" "0000449100" "0000958867" "0000449100" "0000959303" "0000449101" "0000958868" "0000449101" "0000959305" "0000462808" "0001022395" "0000462808" "0001022551" "0000462809" "0001022396" "0000462809" "0001022552"