### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NEK9) # 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}}" "NEK9" "NIMA-related kinase 9" "14" "q24.2" "unknown" "NG_051093.1" "UD_132319813638" "" "https://www.LOVD.nl/NEK9" "" "1" "18591" "91754" "609798" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-23 20:10:16" "00000" "2025-11-01 13:22:20" ## 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}}" "00014473" "NEK9" "NIMA (never in mitosis gene a)- related kinase 9" "001" "NM_033116.4" "" "NP_149107.4" "" "" "" "-154" "5389" "2940" "75593778" "75548818" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "04234" "ACNINV" "acne inversa (ACNINV)" "" "" "" "" "" "00006" "2015-04-03 16:40:01" "" "" "05287" "LCCS10" "contraction, lethal, congenital syndrome, type 10 (LCCS-10)" "AR" "617022" "" "" "" "00006" "2017-06-21 13:43:47" "00006" "2021-12-10 21:51:32" "06227" "APUG" "?Arthrogryposis, Perthes disease, and upward gaze palsy" "AR" "614262" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06230" "NC" "Nevus comedonicus, somatic" "" "617025" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "NEK9" "05287" "NEK9" "06227" "NEK9" "06230" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00064668" "" "" "" "1" "" "00006" "{PMID:Levinsohn 2016:27153399}, {DOI:Levinsohn 2016:10.1016/j.ajhg.2016.03.019}" "" "F" "no" "United States" ">43y" "0" "" "" "" "" "00064669" "" "" "" "1" "" "00006" "{PMID:Levinsohn 2016:27153399}, {DOI:Levinsohn 2016:10.1016/j.ajhg.2016.03.019}" "" "M" "no" "United States" ">10y" "0" "" "" "" "" "00064670" "" "" "" "1" "" "00006" "{PMID:Levinsohn 2016:27153399}, {DOI:Levinsohn 2016:10.1016/j.ajhg.2016.03.019}" "" "F" "no" "United States" ">19y" "0" "" "" "" "" "00144520" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00428227" "" "" "" "1" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "family, 1 affected" "M" "" "Germany" "" "0" "" "" "" "Fam8PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00064668" "04234" "00064669" "04234" "00064670" "04234" "00144520" "00198" "00428227" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04234, 05287, 06227, 06230 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000050868" "04234" "00064668" "00006" "Isolated (sporadic)" "" "linear lesion consisting of grouped comedones on back, history of inflammatory cysts within the lesion" "" "" "" "" "" "" "" "" "" "" "" "0000050869" "04234" "00064669" "00006" "Isolated (sporadic)" "" "10m lesion began to develop intermittent inflammatory cysts with cribriform scarring, comedones became apparent; 10y lesion extended inferiorly to postero-medial right thigh (10cm x 2cm plaque\r\ncomposed of several atrophic cribriform scars and scattered pink comedones, surmounted by thin scale crust" "00y00m01d" "" "shiny flat lesion right inferior buttock" "" "" "" "" "" "" "" "" "0000050870" "04234" "00064670" "00006" "Isolated (sporadic)" "19y" "19y presented with 1cmx4cm lesion\r\non calp (appeared at birth, subsequently developed alopecia, comedones, rare inflammatory cysts)" "00y00m01d" "" "scalp lesion" "" "" "" "" "" "" "" "" "0000117260" "00198" "00144520" "01807" "Unknown" "" "Seizures (HP:0001250); Pulmonic stenosis (HP:0001642); Global developmental delay (HP:0001263); Arthrogryposis multiplex congenita (HP:0002804)" "" "" "" "" "" "" "" "" "" "" "" "0000319139" "00198" "00428227" "00006" "Familial, autosomal recessive" "2m15d" "reduced fetal movements, polyhydramnios; contractures elbows, wrists, fingers, hips, knees, ankles; retrogenia, macroglossia, camptodactyly; seizures, muscular hypertonia; pulmonary hypoplasia, respiratory insufficiency, pulmonary stenosis, cardiomegaly, bilateral hydronephrosis, unilateral inguinal hernia, anal prolapse" "" "" "" "" "" "" "" "" "LCCS10" "fetal akinesia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064808" "00064668" "1" "00006" "00006" "2016-05-07 22:02:40" "00006" "2016-05-07 22:12:02" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000064809" "00064669" "1" "00006" "00006" "2016-05-07 22:16:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064810" "00064670" "1" "00006" "00006" "2016-05-07 22:21:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000145377" "00144520" "0" "01807" "01807" "2017-12-16 16:30:48" "" "" "SEQ" "DNA" "" "" "0000429638" "00428227" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000064808" "NEK9" "0000064809" "NEK9" "0000064810" "NEK9" ## 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 = 28 "{{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}}" "0000096430" "0" "90" "14" "75570561" "75570561" "subst" "0" "00006" "NEK9_000001" "g.75570561C>A" "" "{PMID:Levinsohn 2016:27153399}, {DOI:Levinsohn 2016:10.1016/j.ajhg.2016.03.019}" "" "" "2 samples analysed variant reads 29/182 and 28/164" "Somatic" "" "" "0" "" "" "g.75103858C>A" "" "pathogenic" "" "0000096431" "0" "90" "14" "75570558" "75570558" "subst" "0" "00006" "NEK9_000002" "g.75570558A>G" "" "{PMID:Levinsohn 2016:27153399}, {DOI:Levinsohn 2016:10.1016/j.ajhg.2016.03.019}" "" "" "sample analysed 12/77 variant reads" "Somatic" "" "" "0" "" "" "g.75103855A>G" "" "pathogenic" "" "0000096432" "0" "90" "14" "75587237" "75587237" "subst" "0" "00006" "NEK9_000003" "g.75587237A>G" "" "{PMID:Levinsohn 2016:27153399}, {DOI:Levinsohn 2016:10.1016/j.ajhg.2016.03.019}" "" "" "sample analysed 33/259 variant reads" "Somatic" "" "" "0" "" "" "g.75120534A>G" "" "pathogenic" "" "0000236490" "0" "90" "14" "75573302" "75573302" "del" "0" "01807" "NEK9_000004" "g.75573302del" "" "" "" "1432delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75106599del" "" "pathogenic" "" "0000236491" "0" "70" "14" "75580108" "75580108" "subst" "0" "01807" "NEK9_000005" "g.75580108T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75113405T>C" "" "likely pathogenic" "" "0000342692" "0" "90" "14" "75576537" "75576537" "subst" "1.22042E-5" "02327" "NEK9_000006" "g.75576537G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75109834G>A" "" "pathogenic" "" "0000553055" "0" "70" "14" "75567826" "75567826" "subst" "4.06372E-6" "02327" "NEK9_000008" "g.75567826T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75101123T>C" "" "likely pathogenic" "" "0000553056" "0" "70" "14" "75590818" "75590820" "del" "0" "02327" "NEK9_000009" "g.75590818_75590820del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75124115_75124117del" "" "likely pathogenic" "" "0000615093" "0" "30" "14" "75590896" "75590896" "subst" "0.00242196" "01943" "NEK9_000012" "g.75590896C>T" "" "" "" "NEK9(NM_001329237.1):c.250G>A (p.D84N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75124193C>T" "" "likely benign" "" "0000724864" "0" "50" "14" "75558126" "75558126" "subst" "0" "02329" "NEK9_000010" "g.75558126C>G" "" "" "" "NEK9(NM_033116.6):c.2289G>C (p.E763D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724865" "0" "30" "14" "75568393" "75568393" "subst" "5.68565E-5" "01943" "NEK9_000013" "g.75568393C>A" "" "" "" "NEK9(NM_001329237.1):c.1843G>T (p.A615S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724866" "0" "70" "14" "75568445" "75568447" "del" "0" "02329" "NEK9_000011" "g.75568445_75568447del" "" "" "" "NEK9(NM_033116.6):c.1755_1757delAAC (p.T586del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863677" "0" "30" "14" "75558030" "75558030" "subst" "0.000711683" "01943" "NEK9_000014" "g.75558030T>C" "" "" "" "NEK9(NM_001329237.1):c.2421A>G (p.T807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891891" "0" "90" "14" "75558059" "75558059" "subst" "3.25111E-5" "02327" "NEK9_000015" "g.75558059G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000891892" "0" "90" "14" "75567854" "75567854" "subst" "1.63979E-5" "02327" "NEK9_000016" "g.75567854G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000909223" "1" "70" "14" "75580108" "75580108" "subst" "0" "00006" "NEK9_000005" "g.75580108T>C" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "Germline" "" "" "0" "" "" "g.75113405T>C" "" "likely pathogenic (recessive)" "" "0000909242" "2" "90" "14" "75573302" "75573302" "del" "0" "00006" "NEK9_000004" "g.75573302del" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "Germline" "" "" "0" "" "" "g.75106599del" "" "pathogenic (recessive)" "" "0000950287" "0" "30" "14" "75558152" "75558152" "subst" "0.0150073" "01804" "NEK9_000017" "g.75558152C>T" "" "" "" "NEK9(NM_001329237.1):c.2299G>A (p.(Gly767Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950288" "0" "50" "14" "75573322" "75573322" "subst" "0" "01804" "NEK9_000018" "g.75573322G>A" "" "" "" "NEK9(NM_001329237.1):c.1411C>T (p.(Pro471Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040104" "0" "50" "14" "75553862" "75553862" "subst" "8.12222E-6" "01804" "NEK9_000019" "g.75553862G>A" "" "" "" "NEK9(NM_033116.6):c.2676C>T (p.(Cys892=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040105" "0" "30" "14" "75570714" "75570714" "dup" "0" "01804" "NEK9_000020" "g.75570714dup" "" "" "" "NEK9(NM_033116.6):c.1576-8dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040106" "0" "30" "14" "75585650" "75585650" "dup" "0" "01804" "NEK9_000021" "g.75585650dup" "" "" "" "NEK9(NM_033116.6):c.525-4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040107" "0" "50" "14" "75593423" "75593423" "subst" "0.000271788" "01804" "NEK9_000022" "g.75593423G>C" "" "" "" "NEK9(NM_033116.6):c.202C>G (p.(Leu68Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054901" "0" "30" "14" "75555174" "75555174" "subst" "2.04591E-5" "01804" "NEK9_000023" "g.75555174C>T" "" "" "" "NEK9(NM_033116.6):c.2604+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054902" "0" "50" "14" "75563805" "75563805" "subst" "0.000644114" "01804" "NEK9_000024" "g.75563805A>G" "" "" "" "NEK9(NM_033116.6):c.2171T>C (p.(Val724Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054903" "0" "50" "14" "75563926" "75563926" "subst" "1.23144E-5" "01804" "NEK9_000025" "g.75563926T>C" "" "" "" "NEK9(NM_033116.6):c.2050A>G (p.(Met684Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054904" "0" "50" "14" "75567709" "75567709" "subst" "0" "01804" "NEK9_000026" "g.75567709A>G" "" "" "" "NEK9(NM_033116.6):c.1988T>C (p.(Ile663Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054905" "0" "50" "14" "75568358" "75568358" "subst" "0.000260163" "01804" "NEK9_000027" "g.75568358A>G" "" "" "" "NEK9(NM_033116.6):c.1840+2T>C" "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 NEK9 ## Count = 28 "{{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}}" "0000096430" "00014473" "90" "1715" "0" "1715" "0" "c.1715G>T" "r.1714_1731del" "p.Gly572_Glu577del" "14_14i" "0000096431" "00014473" "90" "1718" "0" "1718" "0" "c.1718T>C" "r.(?)" "p.(Ile573Thr)" "14" "0000096432" "00014473" "90" "500" "0" "500" "0" "c.500T>C" "r.(?)" "p.(Ile167Thr)" "4" "0000236490" "00014473" "90" "1432" "0" "1432" "0" "c.1432del" "r.(?)" "p.(Leu478Serfs*18)" "" "0000236491" "00014473" "70" "874" "-2" "874" "-2" "c.874-2A>G" "r.spl" "p.?" "" "0000342692" "00014473" "90" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Arg345Ter)" "" "0000553055" "00014473" "70" "1871" "0" "1871" "0" "c.1871A>G" "r.(?)" "p.(Asn624Ser)" "" "0000553056" "00014473" "70" "329" "0" "331" "0" "c.329_331del" "r.(?)" "p.(Asn110del)" "" "0000615093" "00014473" "30" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Asp84Asn)" "" "0000724864" "00014473" "50" "2289" "0" "2289" "0" "c.2289G>C" "r.(?)" "p.(Glu763Asp)" "" "0000724865" "00014473" "30" "1807" "0" "1807" "0" "c.1807G>T" "r.(?)" "p.(Ala603Ser)" "" "0000724866" "00014473" "70" "1755" "0" "1757" "0" "c.1755_1757del" "r.(?)" "p.(Thr586del)" "" "0000863677" "00014473" "30" "2385" "0" "2385" "0" "c.2385A>G" "r.(?)" "p.(Thr795=)" "" "0000891891" "00014473" "90" "2356" "0" "2356" "0" "c.2356C>T" "r.(?)" "p.(Arg786*)" "" "0000891892" "00014473" "90" "1843" "0" "1843" "0" "c.1843C>T" "r.(?)" "p.(Arg615*)" "" "0000909223" "00014473" "70" "874" "-2" "874" "-2" "c.874-2A>G" "r.spl" "p.?" "" "0000909242" "00014473" "90" "1432" "0" "1432" "0" "c.1432del" "r.(?)" "p.(Leu478SerfsTer18)" "" "0000950287" "00014473" "30" "2263" "0" "2263" "0" "c.2263G>A" "r.(?)" "p.(Gly755Ser)" "" "0000950288" "00014473" "50" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Pro471Ser)" "" "0001040104" "00014473" "50" "2676" "0" "2676" "0" "c.2676C>T" "r.(?)" "p.(=)" "" "0001040105" "00014473" "30" "1576" "-8" "1576" "-8" "c.1576-8dup" "r.(=)" "p.(=)" "" "0001040106" "00014473" "30" "525" "-4" "525" "-4" "c.525-4dup" "r.spl?" "p.?" "" "0001040107" "00014473" "50" "202" "0" "202" "0" "c.202C>G" "r.(?)" "p.(Leu68Val)" "" "0001054901" "00014473" "30" "2604" "9" "2604" "9" "c.2604+9G>A" "r.(=)" "p.(=)" "" "0001054902" "00014473" "50" "2171" "0" "2171" "0" "c.2171T>C" "r.(?)" "p.(Val724Ala)" "" "0001054903" "00014473" "50" "2050" "0" "2050" "0" "c.2050A>G" "r.(?)" "p.(Met684Val)" "" "0001054904" "00014473" "50" "1988" "0" "1988" "0" "c.1988T>C" "r.(?)" "p.(Ile663Thr)" "" "0001054905" "00014473" "50" "1840" "2" "1840" "2" "c.1840+2T>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000064808" "0000096430" "0000064809" "0000096431" "0000064810" "0000096432" "0000145377" "0000236490" "0000145377" "0000236491" "0000429638" "0000909223" "0000429638" "0000909242"