### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNB1) # 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}}" "KCNB1" "potassium voltage-gated channel, Shab-related subfamily, member 1" "20" "q13.2" "unknown" "NG_041781.2" "UD_136020197679" "" "https://www.LOVD.nl/KCNB1" "" "1" "6231" "3745" "600397" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KCNB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-11-29 11:45:25" "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}}" "00010338" "KCNB1" "potassium voltage-gated channel, Shab-related subfamily, member 1" "001" "NM_004975.2" "" "NP_004966.1" "" "" "" "-164" "3592" "2577" "48099181" "47988505" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04538" "EIEE26" "encephalopathy, epileptic, early infantile, type 26 (EIEE-26)" "AD" "616056" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KCNB1" "04538" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00116845" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_182:0/1:CONTROL" "00116863" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_224:0/1:CONTROL" "00116932" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_376:0/1:CONTROL" "00116983" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_499:0/1:CONTROL" "00117043" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_61:0/1:CONTROL" "00210194" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00228773" "" "" "" "1" "" "03238" "" "" "?" "no" "" "" "0" "" "" "" "" "00269487" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "" "" "Italy" "" "0" "" "" "" "" "00292948" "" "" "" "60" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302880" "" "" "" "1" "" "00006" "{PMID:Srivastava 2018:29322350}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat1" "00302883" "" "" "" "1" "" "00006" "{PMID:Srivastava 2018:29322350}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat4" "00375650" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat37" "00391853" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "213P" "00401307" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "103P" "00436170" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "268773" "00438324" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat42" "00466204" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "340404" "00467301" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH574" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00116845" "00000" "00116863" "00000" "00116932" "00000" "00116983" "00000" "00117043" "00000" "00228773" "00841" "00269487" "00344" "00292948" "00198" "00302880" "00139" "00302883" "00139" "00375650" "00198" "00391853" "04538" "00401307" "00139" "00401307" "04538" "00436170" "04538" "00438324" "04270" "00466204" "04538" "00467301" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00344, 00841, 04270, 04538 ## Count = 10 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000158760" "00198" "00210194" "01164" "Unknown" "" "HP:0011842 (Abnormality of skeletal morphology); HP:0011400 (Abnormal CNS myelination); HP:0000252 (Microcephaly)" "" "" "" "" "" "" "" "" "" "" "" "" "0000172719" "00841" "00228773" "03238" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "EIEE-26" "epileptic encephalopathy" "" "0000207314" "00344" "00269487" "03512" "Unknown" "" "Epileptic Encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "" "0000229958" "00139" "00302880" "00006" "Isolated (sporadic)" "" "see paper; ..., intellectual disability, intractable epilepsy, stereotyped hand movements, loss of purposeful hand use, hypotonia" "" "" "" "" "" "" "" "" "" "" "intellectual disability, RETT-like syndrome" "" "0000229961" "00139" "00302883" "00006" "Isolated (sporadic)" "" "see paper; ..., intellectual disability, intractable epilepsy, hand wringing, bruxism" "" "" "" "" "" "" "" "" "" "" "intellectual disability, RETT-like syndrome" "" "0000270863" "00198" "00375650" "00006" "Isolated (sporadic)" "" "autism spectrum disorder; intellectual disability/developmental delay; seizures; strabismus; hypotonia; MRI brain normal" "" "7y" "" "" "" "" "" "" "" "" "" "" "0000326350" "04538" "00436170" "01164" "Isolated (sporadic)" "02y" "Generalized-onset seizure, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000328228" "04270" "00438324" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0002194 delayed gross motor development; HP:0000750 delayed speech and language development" "6y" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000351587" "04538" "00466204" "01164" "Familial, autosomal dominant" "06y" "Neurodevelopmental delay, Expressive language delay, Status epilepticus, EEG abnormality" "" "" "" "" "" "" "" "" "" "" "" "" "0000352508" "00198" "00467301" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "None" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000117313" "00116845" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117331" "00116863" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117400" "00116932" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117451" "00116983" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117489" "00117043" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000211270" "00210194" "1" "01164" "01164" "2018-12-27 15:49:47" "" "" "SEQ-NG" "DNA" "" "" "0000229862" "00228773" "1" "03238" "03238" "2019-03-25 20:15:09" "" "" "SEQ-NG" "DNA" "" "" "0000270641" "00269487" "1" "03512" "03512" "2019-11-28 17:47:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000294116" "00292948" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304006" "00302880" "1" "00006" "00006" "2020-06-02 21:28:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000304009" "00302883" "1" "00006" "00006" "2020-06-02 21:28:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000376847" "00375650" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000393096" "00391853" "1" "02494" "02494" "2021-11-19 11:27:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000402551" "00401307" "1" "02494" "02494" "2022-01-31 12:41:23" "" "" "SEQ-NG" "DNA" "" "WES" "0000437653" "00436170" "1" "01164" "01164" "2023-08-30 15:00:31" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000439806" "00438324" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467861" "00466204" "1" "01164" "01164" "2025-08-07 13:04:48" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000468964" "00467301" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000304006" "KCNB1" "0000304009" "KCNB1" "0000437653" "KCNB1" "0000467861" "KCNB1" ## 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 = 71 "{{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}}" "0000188176" "0" "50" "20" "47990521" "47990521" "subst" "0.000235613" "02192" "KCNB1_000002" "g.47990521C>T" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs140932636" "0" "" "" "g.49373984C>T" "" "VUS" "" "0000188245" "0" "50" "20" "47990374" "47990374" "subst" "0" "02192" "KCNB1_000001" "g.47990374G>T" "2/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.49373837G>T" "" "VUS" "" "0000188296" "0" "50" "20" "47990374" "47990374" "subst" "0" "02192" "KCNB1_000001" "g.47990374G>T" "2/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.49373837G>T" "" "VUS" "" "0000188455" "0" "50" "20" "47990521" "47990521" "subst" "0.000235613" "02192" "KCNB1_000002" "g.47990521C>T" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs140932636" "0" "" "" "g.49373984C>T" "" "VUS" "" "0000188494" "0" "50" "20" "47990521" "47990521" "subst" "0.000235613" "02192" "KCNB1_000002" "g.47990521C>T" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs140932636" "0" "" "" "g.49373984C>T" "" "VUS" "" "0000188520" "0" "50" "20" "47990521" "47990521" "subst" "0.000235613" "02192" "KCNB1_000002" "g.47990521C>T" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs140932636" "0" "" "" "g.49373984C>T" "" "VUS" "" "0000283481" "0" "50" "20" "47990860" "47990860" "subst" "0" "02329" "KCNB1_000004" "g.47990860C>G" "" "" "" "KCNB1(NM_004975.4):c.1237G>C (p.V413L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49374323C>G" "" "VUS" "" "0000283482" "0" "70" "20" "47991129" "47991129" "subst" "0" "02329" "KCNB1_000006" "g.47991129G>A" "" "" "" "KCNB1(NM_004975.4):c.968C>T (p.T323I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49374592G>A" "" "likely pathogenic" "" "0000285470" "0" "70" "20" "47990904" "47990904" "subst" "0" "02326" "KCNB1_000005" "g.47990904C>A" "" "" "" "KCNB1(NM_004975.4):c.1193G>T (p.C398F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49374367C>A" "" "likely pathogenic" "" "0000285471" "0" "70" "20" "47990849" "47990849" "subst" "0" "02326" "KCNB1_000003" "g.47990849G>C" "" "" "" "KCNB1(NM_004975.4):c.1248C>G (p.F416L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49374312G>C" "" "likely pathogenic" "" "0000285472" "0" "30" "20" "48098528" "48098528" "subst" "0" "02326" "KCNB1_000009" "g.48098528C>G" "" "" "" "KCNB1(NM_004975.4):c.490G>C (p.D164H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49481991C>G" "" "likely benign" "" "0000285473" "0" "70" "20" "47991178" "47991178" "subst" "0" "02326" "KCNB1_000007" "g.47991178T>G" "" "" "" "KCNB1(NM_004975.4):c.919A>C (p.I307L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49374641T>G" "" "likely pathogenic" "" "0000290027" "0" "50" "20" "47991345" "47991345" "subst" "0" "01943" "KCNB1_000008" "g.47991345G>A" "" "" "" "KCNB1(NM_004975.3):c.752C>T (p.S251L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49374808G>A" "" "VUS" "" "0000348549" "0" "50" "20" "47990100" "47990100" "subst" "0.000134102" "02327" "KCNB1_000010" "g.47990100G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49373563G>A" "" "VUS" "" "0000349810" "0" "50" "20" "47990629" "47990629" "subst" "0" "02327" "KCNB1_000011" "g.47990629A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49374092A>G" "" "VUS" "" "0000442741" "0" "50" "20" "47990046" "47990046" "subst" "0" "01164" "KCNB1_000012" "g.47990046A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49373509A>G" "" "VUS" "ACMG" "0000471094" "0" "70" "20" "48098890" "48098890" "subst" "0" "03238" "KCNB1_000013" "g.48098890T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.49482353T>C" "" "likely pathogenic" "ACMG" "0000569908" "0" "30" "20" "47989527" "47989527" "subst" "0.0103736" "01804" "KCNB1_000014" "g.47989527C>T" "" "" "" "KCNB1(NM_004975.2):c.2570G>A (p.(Ser857Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49372990C>T" "" "likely benign" "" "0000569911" "0" "30" "20" "47989945" "47989945" "subst" "4.06765E-6" "01804" "KCNB1_000016" "g.47989945C>T" "" "" "" "KCNB1(NM_004975.2):c.2152G>A (p.(Val718Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49373408C>T" "" "likely benign" "" "0000569912" "0" "30" "20" "47990250" "47990250" "subst" "0.017497" "01804" "KCNB1_000017" "g.47990250G>C" "" "" "" "KCNB1(NM_004975.2):c.1847C>G (p.(Thr616Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49373713G>C" "" "likely benign" "" "0000569913" "0" "70" "20" "47990475" "47990487" "del" "0" "01804" "KCNB1_000018" "g.47990475_47990487del" "" "" "" "KCNB1(NM_004975.2):c.1614_1626del (p.(Lys538AsnfsTer28))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49373938_49373950del" "" "likely pathogenic" "" "0000569914" "0" "30" "20" "47990521" "47990521" "subst" "0.000235613" "02326" "KCNB1_000002" "g.47990521C>T" "" "" "" "KCNB1(NM_004975.4):c.1576G>A (p.V526I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49373984C>T" "" "likely benign" "" "0000569915" "0" "90" "20" "47990634" "47990634" "subst" "0" "01943" "KCNB1_000019" "g.47990634C>T" "" "" "" "KCNB1(NM_004975.3):c.1463G>A (p.W488*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49374097C>T" "" "pathogenic" "" "0000569916" "0" "30" "20" "47991020" "47991020" "subst" "4.07315E-6" "01943" "KCNB1_000020" "g.47991020G>A" "" "" "" "KCNB1(NM_004975.3):c.1077C>T (p.T359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49374483G>A" "" "likely benign" "" "0000569918" "0" "90" "20" "47991181" "47991181" "subst" "0" "02326" "KCNB1_000022" "g.47991181G>A" "" "" "" "KCNB1(NM_004975.4):c.916C>T (p.R306C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49374644G>A" "" "pathogenic" "" "0000569919" "0" "50" "20" "47991399" "47991399" "subst" "0" "02327" "KCNB1_000023" "g.47991399T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49374862T>C" "" "VUS" "" "0000569920" "0" "30" "20" "48098643" "48098643" "subst" "0.00108037" "01943" "KCNB1_000024" "g.48098643G>A" "" "" "" "KCNB1(NM_004975.3):c.375C>T (p.D125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49482106G>A" "" "likely benign" "" "0000604427" "0" "70" "20" "47991181" "47991181" "subst" "0" "03512" "KCNB1_000022" "g.47991181G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.49374644G>A" "" "likely pathogenic (dominant)" "" "0000618199" "0" "90" "20" "47990875" "47990875" "subst" "0" "02327" "KCNB1_000026" "g.47990875G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49374338G>A" "" "pathogenic" "" "0000618200" "0" "50" "20" "48098659" "48098659" "subst" "0" "02325" "KCNB1_000027" "g.48098659T>A" "" "" "" "KCNB1(NM_004975.4):c.359A>T (p.D120V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49482122T>A" "" "VUS" "" "0000650805" "1" "10" "20" "47989527" "47989527" "subst" "0.0103736" "03575" "KCNB1_000014" "g.47989527C>T" "60/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "60 heterozygous, no homozygous; {DB:CLININrs34280195}" "Germline" "" "rs34280195" "0" "" "" "g.49372990C>T" "" "benign" "" "0000667397" "0" "90" "20" "47990962" "47990962" "subst" "0" "00006" "KCNB1_000028" "g.47990962C>T" "" "{PMID:Srivastava 2018:29322350}" "" "" "" "De novo" "" "" "0" "" "" "g.49374425C>T" "" "pathogenic (dominant)" "" "0000667400" "0" "90" "20" "47990976" "47990976" "subst" "0" "00006" "KCNB1_000029" "g.47990976G>A" "" "{PMID:Srivastava 2018:29322350}" "" "" "" "De novo" "" "" "0" "" "" "g.49374439G>A" "" "pathogenic (dominant)" "" "0000681634" "0" "30" "20" "47989991" "47989991" "subst" "0.000622721" "01943" "KCNB1_000030" "g.47989991C>T" "" "" "" "KCNB1(NM_004975.3):c.2106G>A (p.A702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681635" "0" "30" "20" "47990363" "47990363" "subst" "0.000528391" "01943" "KCNB1_000031" "g.47990363C>G" "" "" "" "KCNB1(NM_004975.3):c.1734G>C (p.G578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681636" "0" "90" "20" "47991163" "47991163" "subst" "0" "01943" "KCNB1_000032" "g.47991163G>A" "" "" "" "KCNB1(NM_004975.3):c.934C>T (p.R312C), KCNB1(NM_004975.4):c.934C>T (p.R312C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727717" "0" "30" "20" "47989982" "47989982" "subst" "6.51524E-5" "02326" "KCNB1_000033" "g.47989982G>A" "" "" "" "KCNB1(NM_004975.4):c.2115C>T (p.V705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727718" "0" "30" "20" "47990792" "47990792" "subst" "3.65979E-5" "01943" "KCNB1_000034" "g.47990792A>G" "" "" "" "KCNB1(NM_004975.3):c.1305T>C (p.A435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727719" "0" "70" "20" "47991056" "47991056" "subst" "0" "02329" "KCNB1_000021" "g.47991056G>C" "" "" "" "KCNB1(NM_004975.4):c.1041C>G (p.S347R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727720" "0" "70" "20" "47991151" "47991151" "subst" "0" "02325" "KCNB1_000035" "g.47991151C>T" "" "" "" "KCNB1(NM_004975.4):c.946G>A (p.G316S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000788902" "0" "70" "20" "47990962" "47990962" "subst" "0" "00006" "KCNB1_000028" "g.47990962C>T" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "De novo" "" "" "0" "" "" "g.49374425C>T" "" "likely pathogenic" "" "0000809266" "0" "30" "20" "47990801" "47990801" "subst" "0.000227833" "02326" "KCNB1_000036" "g.47990801C>T" "" "" "" "KCNB1(NM_004975.4):c.1296G>A (p.R432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809267" "0" "30" "20" "48098919" "48098919" "subst" "7.75482E-6" "02327" "KCNB1_000037" "g.48098919G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000823704" "0" "70" "20" "47990518" "47990518" "subst" "0" "02494" "KCNB1_000038" "g.47990518G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000836782" "0" "70" "20" "47991181" "47991181" "subst" "0" "02494" "KCNB1_000022" "g.47991181G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000855862" "0" "30" "20" "47990521" "47990521" "subst" "0.000235613" "02325" "KCNB1_000002" "g.47990521C>T" "" "" "" "KCNB1(NM_004975.4):c.1576G>A (p.V526I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855863" "0" "50" "20" "48098464" "48098464" "subst" "0" "02327" "KCNB1_000042" "g.48098464G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866524" "0" "50" "20" "47989992" "47989992" "subst" "4.07024E-6" "02329" "KCNB1_000039" "g.47989992G>T" "" "" "" "KCNB1(NM_004975.4):c.2105C>A (p.A702E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866525" "0" "50" "20" "47990089" "47990089" "subst" "0" "02329" "KCNB1_000040" "g.47990089G>A" "" "" "" "KCNB1(NM_004975.4):c.2008C>T (p.R670*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866526" "0" "70" "20" "47991163" "47991163" "subst" "0" "02329" "KCNB1_000032" "g.47991163G>A" "" "" "" "KCNB1(NM_004975.3):c.934C>T (p.R312C), KCNB1(NM_004975.4):c.934C>T (p.R312C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866527" "0" "50" "20" "47991198" "47991198" "subst" "0" "02326" "KCNB1_000041" "g.47991198C>G" "" "" "" "KCNB1(NM_004975.4):c.899G>C (p.R300P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895358" "0" "90" "20" "47991163" "47991163" "subst" "0" "02327" "KCNB1_000032" "g.47991163G>A" "" "" "" "KCNB1(NM_004975.3):c.934C>T (p.R312C), KCNB1(NM_004975.4):c.934C>T (p.R312C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915398" "0" "90" "20" "47991468" "47991468" "subst" "0" "02329" "KCNB1_000043" "g.47991468G>A" "" "" "" "KCNB1(NM_004975.4):c.629C>T (p.T210M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915399" "0" "50" "20" "48098567" "48098567" "subst" "0" "02327" "KCNB1_000044" "g.48098567C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927016" "0" "50" "20" "47989774" "47989774" "subst" "8.12599E-6" "02325" "KCNB1_000045" "g.47989774G>A" "" "" "" "KCNB1(NM_004975.4):c.2323C>T (p.P775S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927017" "0" "50" "20" "47990797" "47990797" "subst" "0" "02327" "KCNB1_000046" "g.47990797C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927018" "0" "90" "20" "47991468" "47991468" "subst" "0" "02327" "KCNB1_000043" "g.47991468G>A" "" "" "" "KCNB1(NM_004975.4):c.629C>T (p.T210M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000932998" "0" "70" "20" "47991468" "47991468" "subst" "0" "01164" "KCNB1_000043" "g.47991468G>A" "" "PMID: 31600826, 28806457, 29264397, 31513310, 32954514, 33951346" "" "" "ACMG: PS2_VSTR, PM5, PP3_MOD, PS3_SUP, PM2_SUP" "De novo" "-" "" "" "" "" "g.49374931G>A" "VCV000542057.19" "pathogenic (dominant)" "ACMG" "0000935935" "0" "90" "20" "47990956" "47990956" "subst" "0" "00006" "KCNB1_000047" "g.47990956C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49374419C>T" "" "pathogenic (dominant)" "" "0000951446" "0" "50" "20" "47990860" "47990860" "subst" "0" "02325" "KCNB1_000048" "g.47990860C>T" "" "" "" "KCNB1(NM_004975.4):c.1237G>A (p.V413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951447" "0" "50" "20" "48098695" "48098697" "del" "0" "02329" "KCNB1_000049" "g.48098695_48098697del" "" "" "" "KCNB1(NM_004975.4):c.325_327delGAG (p.E109del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970178" "0" "70" "20" "47991510" "47991510" "subst" "0" "01804" "KCNB1_000050" "g.47991510A>G" "" "" "" "KCNB1(NM_004975.2):c.587T>C (p.(Ile196Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005444" "0" "50" "20" "47991043" "47991043" "subst" "0" "01804" "KCNB1_000051" "g.47991043C>A" "" "" "" "KCNB1(NM_004975.2):c.1054G>T (p.(Ala352Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029997" "0" "70" "20" "47991044" "47991044" "subst" "0" "03779" "KCNB1_000053" "g.47991044A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001043396" "0" "30" "20" "47975664" "47975665" "ins" "0" "01804" "KCNB1_000054" "g.47975664_47975665insGTA" "" "" "" "KCNB1(NM_004975.4):c.*13855_*13856insTAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043397" "0" "50" "20" "47989619" "47989619" "subst" "0" "01804" "KCNB1_000055" "g.47989619A>T" "" "" "" "KCNB1(NM_004975.4):c.2478T>A (p.(Ser826Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043398" "0" "30" "20" "47989774" "47989774" "subst" "1.2189E-5" "01804" "KCNB1_000056" "g.47989774G>T" "" "" "" "KCNB1(NM_004975.4):c.2323C>A (p.(Pro775Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043399" "0" "50" "20" "47990435" "47990435" "subst" "1.21928E-5" "01804" "KCNB1_000057" "g.47990435G>T" "" "" "" "KCNB1(NM_004975.4):c.1662C>A (p.(Ser554Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047232" "11" "50" "20" "47991102" "47991102" "subst" "0" "01164" "KCNB1_000058" "g.47991102C>G" "" "" "" "" "ACMG: PM1, PM5, PP2, PP3_MOD, PM2_SUP, paternal inherited, no information about paternal phenotype;" "Germline" "?" "" "" "" "" "g.49374565C>G" "" "likely pathogenic (dominant)" "ACMG" "0001049058" "0" "90" "20" "47990964" "47990964" "subst" "0" "00006" "KCNB1_000059" "g.47990964A>G" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.1133T>C" "" "De novo" "" "" "0" "" "" "g.49374427A>G" "" "pathogenic (dominant)" "" "0001067345" "0" "30" "20" "47990005" "47990005" "subst" "2.03465E-5" "02325" "KCNB1_000060" "g.47990005G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes KCNB1 ## Count = 71 "{{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}}" "0000188176" "00010338" "00" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Val526Ile)" "" "0000188245" "00010338" "00" "1723" "0" "1723" "0" "c.1723C>A" "r.(?)" "p.(Arg575Ser)" "" "0000188296" "00010338" "00" "1723" "0" "1723" "0" "c.1723C>A" "r.(?)" "p.(Arg575Ser)" "" "0000188455" "00010338" "00" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Val526Ile)" "" "0000188494" "00010338" "00" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Val526Ile)" "" "0000188520" "00010338" "00" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Val526Ile)" "" "0000283481" "00010338" "50" "1237" "0" "1237" "0" "c.1237G>C" "r.(?)" "p.(Val413Leu)" "" "0000283482" "00010338" "70" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Thr323Ile)" "" "0000285470" "00010338" "70" "1193" "0" "1193" "0" "c.1193G>T" "r.(?)" "p.(Cys398Phe)" "" "0000285471" "00010338" "70" "1248" "0" "1248" "0" "c.1248C>G" "r.(?)" "p.(Phe416Leu)" "" "0000285472" "00010338" "30" "490" "0" "490" "0" "c.490G>C" "r.(?)" "p.(Asp164His)" "" "0000285473" "00010338" "70" "919" "0" "919" "0" "c.919A>C" "r.(?)" "p.(Ile307Leu)" "" "0000290027" "00010338" "50" "752" "0" "752" "0" "c.752C>T" "r.(?)" "p.(Ser251Leu)" "" "0000348549" "00010338" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Pro666Leu)" "" "0000349810" "00010338" "50" "1468" "0" "1468" "0" "c.1468T>C" "r.(?)" "p.(Trp490Arg)" "" "0000442741" "00010338" "50" "2051" "0" "2051" "0" "c.2051T>C" "r.(?)" "p.Leu684Pro" "" "0000471094" "00010338" "70" "128" "0" "128" "0" "c.128A>G" "r.(128a>g)" "p.(Glu43Gly)" "" "0000569908" "00010338" "30" "2570" "0" "2570" "0" "c.2570G>A" "r.(?)" "p.(Ser857Asn)" "" "0000569911" "00010338" "30" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Val718Met)" "" "0000569912" "00010338" "30" "1847" "0" "1847" "0" "c.1847C>G" "r.(?)" "p.(Thr616Ser)" "" "0000569913" "00010338" "70" "1614" "0" "1626" "0" "c.1614_1626del" "r.(?)" "p.(Lys538AsnfsTer28)" "" "0000569914" "00010338" "30" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Val526Ile)" "" "0000569915" "00010338" "90" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Trp488Ter)" "" "0000569916" "00010338" "30" "1077" "0" "1077" "0" "c.1077C>T" "r.(?)" "p.(Thr359=)" "" "0000569918" "00010338" "90" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Cys)" "" "0000569919" "00010338" "50" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Glu233Gly)" "" "0000569920" "00010338" "30" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(Asp125=)" "" "0000604427" "00010338" "70" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Cys)" "" "0000618199" "00010338" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Pro408Ser)" "" "0000618200" "00010338" "50" "359" "0" "359" "0" "c.359A>T" "r.(?)" "p.(Asp120Val)" "" "0000650805" "00010338" "10" "2570" "0" "2570" "0" "c.2570G>A" "r.(?)" "p.(Ser857Asn)" "" "0000667397" "00010338" "90" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Arg)" "" "0000667400" "00010338" "90" "1121" "0" "1121" "0" "c.1121C>T" "r.(?)" "p.(Thr374Ile)" "" "0000681634" "00010338" "30" "2106" "0" "2106" "0" "c.2106G>A" "r.(?)" "p.(Ala702=)" "" "0000681635" "00010338" "30" "1734" "0" "1734" "0" "c.1734G>C" "r.(?)" "p.(Gly578=)" "" "0000681636" "00010338" "90" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Cys)" "" "0000727717" "00010338" "30" "2115" "0" "2115" "0" "c.2115C>T" "r.(?)" "p.(Val705=)" "" "0000727718" "00010338" "30" "1305" "0" "1305" "0" "c.1305T>C" "r.(?)" "p.(Ala435=)" "" "0000727719" "00010338" "70" "1041" "0" "1041" "0" "c.1041C>G" "r.(?)" "p.(Ser347Arg)" "" "0000727720" "00010338" "70" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Gly316Ser)" "" "0000788902" "00010338" "70" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Arg)" "" "0000809266" "00010338" "30" "1296" "0" "1296" "0" "c.1296G>A" "r.(?)" "p.(Arg432=)" "" "0000809267" "00010338" "30" "99" "0" "99" "0" "c.99C>A" "r.(?)" "p.(Val33=)" "" "0000823704" "00010338" "70" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Gln527*)" "" "0000836782" "00010338" "70" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Cys)" "" "0000855862" "00010338" "30" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Val526Ile)" "" "0000855863" "00010338" "50" "554" "0" "554" "0" "c.554C>T" "r.(?)" "p.(Ser185Phe)" "" "0000866524" "00010338" "50" "2105" "0" "2105" "0" "c.2105C>A" "r.(?)" "p.(Ala702Glu)" "" "0000866525" "00010338" "50" "2008" "0" "2008" "0" "c.2008C>T" "r.(?)" "p.(Arg670*)" "" "0000866526" "00010338" "70" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Cys)" "" "0000866527" "00010338" "50" "899" "0" "899" "0" "c.899G>C" "r.(?)" "p.(Arg300Pro)" "" "0000895358" "00010338" "90" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Cys)" "" "0000915398" "00010338" "90" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Thr210Met)" "" "0000915399" "00010338" "50" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Glu151Lys)" "" "0000927016" "00010338" "50" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Pro775Ser)" "" "0000927017" "00010338" "50" "1300" "0" "1300" "0" "c.1300G>C" "r.(?)" "p.(Glu434Gln)" "" "0000927018" "00010338" "90" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Thr210Met)" "" "0000932998" "00010338" "70" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Thr210Met)" "2" "0000935935" "00010338" "90" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Gly381Arg)" "" "0000951446" "00010338" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Val413Ile)" "" "0000951447" "00010338" "50" "325" "0" "327" "0" "c.325_327del" "r.(?)" "p.(Glu109del)" "" "0000970178" "00010338" "70" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Ile196Thr)" "" "0001005444" "00010338" "50" "1054" "0" "1054" "0" "c.1054G>T" "r.(?)" "p.(Ala352Ser)" "" "0001029997" "00010338" "70" "1053" "0" "1053" "0" "c.1053T>G" "r.(?)" "p.(Phe351Leu)" "" "0001043396" "00010338" "30" "16432" "0" "16433" "0" "c.*13855_*13856insTAC" "r.(=)" "p.(=)" "" "0001043397" "00010338" "50" "2478" "0" "2478" "0" "c.2478T>A" "r.(?)" "p.(Ser826Arg)" "" "0001043398" "00010338" "30" "2323" "0" "2323" "0" "c.2323C>A" "r.(?)" "p.(Pro775Thr)" "" "0001043399" "00010338" "50" "1662" "0" "1662" "0" "c.1662C>A" "r.(?)" "p.(Ser554Arg)" "" "0001047232" "00010338" "50" "995" "0" "995" "0" "c.995G>C" "r.(?)" "p.(Gly332Ala)" "2" "0001049058" "00010338" "90" "1133" "0" "1133" "0" "c.1133T>C" "r.(?)" "p.(Val378Ala)" "" "0001067345" "00010338" "30" "2092" "0" "2092" "0" "c.2092C>T" "r.(?)" "p.(Arg698Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000117313" "0000188455" "0000117331" "0000188176" "0000117400" "0000188245" "0000117451" "0000188296" "0000117451" "0000188494" "0000117489" "0000188520" "0000211270" "0000442741" "0000229862" "0000471094" "0000270641" "0000604427" "0000294116" "0000650805" "0000304006" "0000667397" "0000304009" "0000667400" "0000376847" "0000788902" "0000393096" "0000823704" "0000402551" "0000836782" "0000437653" "0000932998" "0000439806" "0000935935" "0000467861" "0001047232" "0000468964" "0001049058"