### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNC1) # 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}}" "KCNC1" "potassium voltage-gated channel, Shaw-related subfamily, member 1" "11" "p15" "unknown" "NG_041827.1" "UD_136087926302" "" "http://www.LOVD.nl/KCNC1" "" "1" "6233" "3746" "176258" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KCNC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-09-29 16:06:22" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024172" "KCNC1" "transcript variant A" "001" "NM_001112741.1" "" "NP_001106212.1" "" "" "" "-55" "3079" "1758" "17757495" "17804602" "00006" "2016-09-29 16:05:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "04539" "EPM7" "epilepsy, myoclonic, progressive, type 7 (EPM-7)" "AD" "616187" "" "" "" "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}}" "KCNC1" "04539" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00081422" "" "" "" "1" "" "00067" "" "" "M" "no" "" "" "0" "" "" "North Africa" "" "00089106" "" "" "" "3" "" "01836" "{PMID:Poirier 2017:28145425}, {DOI:Poirier 2017:0.1038/ejhg.2017.3}" "2-generation family, 3 affecteds, father, daugther and son" "F;M" "?" "France" "" "0" "" "" "" "28145425-Fam" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00081422" "04147" "00089106" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 04147, 04539 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000060985" "04147" "00081422" "00067" "Familial, autosomal dominant" "10y" "delayed motor milestones, speech delay, hypotonia, lability of attention, intellectual disability, dysmorphic features" "00y11m" "06y" "" "" "" "" "" "" "" "0000068500" "00139" "00089106" "01836" "Familial, autosomal dominant" "" "delayed motor milestones, speech delay, hypotonia, lability of attention, intellectual disability, normal head circumference, minor dysmorphic features incl. epicanthal folds, ptosis, short philtrum, prognathism, fetal pads, protruding ears; intellectual disability (HP:0001249); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081535" "00081422" "1" "00067" "00067" "2016-09-28 16:36:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000089252" "00089106" "1" "01836" "01836" "2016-11-29 11:49:49" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000081535" "KCNC1" "0000089252" "CES5A" "0000089252" "EGFR" "0000089252" "GADL1" "0000089252" "KCNC1" "0000089252" "KIAA1024" "0000089252" "SLC35A5" "0000089252" "TPH1" ## 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 = 34 "{{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}}" "0000132191" "11" "90" "11" "17793656" "17793656" "subst" "0" "00067" "KCNC1_000001" "g.17793656C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.17772109C>T" "" "pathogenic" "" "0000147175" "11" "90" "11" "17793656" "17793656" "subst" "0" "01836" "KCNC1_000001" "g.17793656C>T" "" "{PMID:Poirier 2017:28145425}, {DOI:Poirier 2017:0.1038/ejhg.2017.3}" "" "" "very significant reduction (>0.50) KCNC1 transcript in fibroblasts" "Germline" "yes" "" "0" "" "" "g.17772109C>T" "" "pathogenic" "" "0000339101" "0" "70" "11" "17793530" "17793530" "subst" "8.12519E-6" "02327" "KCNC1_000004" "g.17793530G>A" "" "" "" "KCNC1(NM_001112741.2):c.889G>A (p.G297S), KCNC1(NM_004976.4):c.889G>A (p.G297S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17771983G>A" "" "likely pathogenic" "" "0000342361" "0" "50" "11" "17793350" "17793350" "subst" "5.68482E-5" "02327" "KCNC1_000003" "g.17793350C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17771803C>T" "" "VUS" "" "0000344866" "0" "50" "11" "17794092" "17794092" "subst" "5.28361E-5" "02327" "KCNC1_000005" "g.17794092A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17772545A>G" "" "VUS" "" "0000347978" "0" "30" "11" "17793235" "17793235" "subst" "1.21904E-5" "02327" "KCNC1_000002" "g.17793235C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17771688C>G" "" "likely benign" "" "0000543297" "0" "50" "11" "17757849" "17757849" "subst" "0" "02325" "KCNC1_000006" "g.17757849C>A" "" "" "" "KCNC1(NM_004976.4):c.300C>A (p.D100E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17736302C>A" "" "VUS" "" "0000543298" "0" "50" "11" "17757970" "17757970" "subst" "7.07095E-5" "01943" "KCNC1_000007" "g.17757970G>T" "" "" "" "KCNC1(NM_004976.4):c.421G>T (p.D141Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17736423G>T" "" "VUS" "" "0000543304" "0" "30" "11" "17793324" "17793324" "subst" "0.000308604" "01943" "KCNC1_000008" "g.17793324G>T" "" "" "" "KCNC1(NM_001112741.2):c.683G>T (p.(Arg228Leu)), KCNC1(NM_004976.4):c.683G>T (p.R228L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17771777G>T" "" "likely benign" "" "0000543306" "0" "30" "11" "17794174" "17794174" "subst" "0.000248254" "02326" "KCNC1_000010" "g.17794174C>T" "" "" "" "KCNC1(NM_004976.4):c.1533C>T (p.I511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17772627C>T" "" "likely benign" "" "0000543307" "0" "30" "11" "17801109" "17801109" "subst" "5.38568E-5" "01943" "KCNC1_000011" "g.17801109G>A" "" "" "" "KCNC1(NM_001112741.1):c.1611G>A (p.S537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17779562G>A" "" "likely benign" "" "0000543308" "0" "30" "11" "17801151" "17801151" "subst" "5.40081E-5" "02326" "KCNC1_000012" "g.17801151C>T" "" "" "" "KCNC1(NM_001112741.1):c.1653C>T (p.T551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17779604C>T" "" "likely benign" "" "0000543309" "0" "30" "11" "17801157" "17801157" "subst" "0.000243741" "02326" "KCNC1_000013" "g.17801157G>T" "" "" "" "KCNC1(NM_001112741.1):c.1659G>T (p.E553D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17779610G>T" "" "likely benign" "" "0000679128" "0" "50" "11" "17757718" "17757720" "del" "0" "02325" "KCNC1_000014" "g.17757718_17757720del" "" "" "" "KCNC1(NM_004976.4):c.169_171delTTC (p.F57del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679130" "0" "30" "11" "17793553" "17793553" "subst" "6.5066E-5" "01943" "KCNC1_000015" "g.17793553G>A" "" "" "" "KCNC1(NM_004976.4):c.912G>A (p.K304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679131" "0" "50" "11" "17793707" "17793707" "subst" "0" "02325" "KCNC1_000016" "g.17793707G>A" "" "" "" "KCNC1(NM_004976.4):c.1066G>A (p.V356M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679132" "0" "30" "11" "17801046" "17801046" "subst" "0" "01943" "KCNC1_000017" "g.17801046C>T" "" "" "" "KCNC1(NM_001112741.1):c.1548C>T (p.N516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723345" "0" "30" "11" "17793324" "17793324" "subst" "0.000308604" "02326" "KCNC1_000008" "g.17793324G>T" "" "" "" "KCNC1(NM_001112741.2):c.683G>T (p.(Arg228Leu)), KCNC1(NM_004976.4):c.683G>T (p.R228L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805057" "0" "30" "11" "17793877" "17793877" "subst" "0.000727542" "01943" "KCNC1_000018" "g.17793877C>T" "" "" "" "KCNC1(NM_004976.4):c.1236C>T (p.S412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862465" "0" "50" "11" "17793573" "17793573" "subst" "0" "02325" "KCNC1_000019" "g.17793573G>A" "" "" "" "KCNC1(NM_001112741.2):c.932G>A (p.R311H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889737" "0" "50" "11" "17793617" "17793617" "subst" "0" "02325" "KCNC1_000020" "g.17793617C>T" "" "" "" "KCNC1(NM_001112741.2):c.976C>T (p.R326C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913548" "0" "50" "11" "17793938" "17793938" "subst" "0" "02327" "KCNC1_000021" "g.17793938C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925354" "0" "50" "11" "17793575" "17793575" "subst" "0" "02329" "KCNC1_000022" "g.17793575G>T" "" "" "" "KCNC1(NM_004976.4):c.934G>T (p.V312F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966282" "0" "50" "11" "17801116" "17801116" "subst" "2.02001E-5" "02325" "KCNC1_000023" "g.17801116C>T" "" "" "" "KCNC1(NM_001112741.2):c.1618C>T (p.R540C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979502" "0" "30" "11" "17793324" "17793324" "subst" "0.000308604" "01804" "KCNC1_000008" "g.17793324G>T" "" "" "" "KCNC1(NM_001112741.2):c.683G>T (p.(Arg228Leu)), KCNC1(NM_004976.4):c.683G>T (p.R228L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979503" "0" "30" "11" "17801117" "17801117" "subst" "4.03953E-5" "02326" "KCNC1_000024" "g.17801117G>A" "" "" "" "KCNC1(NM_001112741.1):c.1619G>A (p.(Arg540His), p.R540H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998930" "0" "50" "11" "17793530" "17793530" "subst" "8.12519E-6" "02329" "KCNC1_000004" "g.17793530G>A" "" "" "" "KCNC1(NM_001112741.2):c.889G>A (p.G297S), KCNC1(NM_004976.4):c.889G>A (p.G297S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998931" "0" "70" "11" "17793793" "17793793" "dup" "0" "01804" "KCNC1_000025" "g.17793793dup" "" "" "" "KCNC1(NM_001112741.1):c.1152dupT (p.(Lys385fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998932" "0" "30" "11" "17794050" "17794050" "subst" "2.43718E-5" "01804" "KCNC1_000026" "g.17794050A>G" "" "" "" "KCNC1(NM_001112741.1):c.1409A>G (p.(Asn470Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998933" "0" "30" "11" "17794103" "17794103" "subst" "4.06745E-6" "01804" "KCNC1_000027" "g.17794103T>G" "" "" "" "KCNC1(NM_001112741.1):c.1462T>G (p.(Cys488Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998934" "0" "30" "11" "17801117" "17801117" "subst" "4.03953E-5" "01804" "KCNC1_000024" "g.17801117G>A" "" "" "" "KCNC1(NM_001112741.1):c.1619G>A (p.(Arg540His), p.R540H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025949" "0" "50" "11" "17793530" "17793530" "subst" "8.12519E-6" "02325" "KCNC1_000004" "g.17793530G>A" "" "" "" "KCNC1(NM_001112741.2):c.889G>A (p.G297S), KCNC1(NM_004976.4):c.889G>A (p.G297S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038380" "0" "30" "11" "17793307" "17793307" "subst" "4.06058E-6" "02326" "KCNC1_000028" "g.17793307G>A" "" "" "" "KCNC1(NM_001112741.1):c.666G>A (p.T222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038381" "0" "50" "11" "17803220" "17803220" "subst" "0" "01804" "KCNC1_000029" "g.17803220T>A" "" "" "" "KCNC1(NM_001112741.2):c.1697T>A (p.(Leu566His))" "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 KCNC1 ## Count = 34 "{{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}}" "0000132191" "00024172" "90" "1015" "0" "1015" "0" "c.1015C>T" "r.(0?)" "p.(Arg339*)" "2" "0000147175" "00024172" "90" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339*)" "" "0000339101" "00024172" "70" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Ser)" "" "0000342361" "00024172" "50" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Trp)" "" "0000344866" "00024172" "50" "1451" "0" "1451" "0" "c.1451A>G" "r.(?)" "p.(Gln484Arg)" "" "0000347978" "00024172" "30" "594" "0" "594" "0" "c.594C>G" "r.(?)" "p.(Phe198Leu)" "" "0000543297" "00024172" "50" "300" "0" "300" "0" "c.300C>A" "r.(?)" "p.(Asp100Glu)" "" "0000543298" "00024172" "50" "421" "0" "421" "0" "c.421G>T" "r.(?)" "p.(Asp141Tyr)" "" "0000543304" "00024172" "30" "683" "0" "683" "0" "c.683G>T" "r.(?)" "p.(Arg228Leu)" "" "0000543306" "00024172" "30" "1504" "29" "1504" "29" "c.1504+29C>T" "r.(=)" "p.(=)" "" "0000543307" "00024172" "30" "1611" "0" "1611" "0" "c.1611G>A" "r.(?)" "p.(Ser537=)" "" "0000543308" "00024172" "30" "1653" "0" "1653" "0" "c.1653C>T" "r.(?)" "p.(Thr551=)" "" "0000543309" "00024172" "30" "1659" "0" "1659" "0" "c.1659G>T" "r.(?)" "p.(Glu553Asp)" "" "0000679128" "00024172" "50" "169" "0" "171" "0" "c.169_171del" "r.(?)" "p.(Phe57del)" "" "0000679130" "00024172" "30" "912" "0" "912" "0" "c.912G>A" "r.(?)" "p.(Lys304=)" "" "0000679131" "00024172" "50" "1066" "0" "1066" "0" "c.1066G>A" "r.(?)" "p.(Val356Met)" "" "0000679132" "00024172" "30" "1548" "0" "1548" "0" "c.1548C>T" "r.(?)" "p.(Asn516=)" "" "0000723345" "00024172" "30" "683" "0" "683" "0" "c.683G>T" "r.(?)" "p.(Arg228Leu)" "" "0000805057" "00024172" "30" "1236" "0" "1236" "0" "c.1236C>T" "r.(?)" "p.(Ser412=)" "" "0000862465" "00024172" "50" "932" "0" "932" "0" "c.932G>A" "r.(?)" "p.(Arg311His)" "" "0000889737" "00024172" "50" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Arg326Cys)" "" "0000913548" "00024172" "50" "1297" "0" "1297" "0" "c.1297C>T" "r.(?)" "p.(Pro433Ser)" "" "0000925354" "00024172" "50" "934" "0" "934" "0" "c.934G>T" "r.(?)" "p.(Val312Phe)" "" "0000966282" "00024172" "50" "1618" "0" "1618" "0" "c.1618C>T" "r.(?)" "p.(Arg540Cys)" "" "0000979502" "00024172" "30" "683" "0" "683" "0" "c.683G>T" "r.(?)" "p.(Arg228Leu)" "" "0000979503" "00024172" "30" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "" "0000998930" "00024172" "50" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Ser)" "" "0000998931" "00024172" "70" "1152" "0" "1152" "0" "c.1152dup" "r.(?)" "p.(Lys385*)" "" "0000998932" "00024172" "30" "1409" "0" "1409" "0" "c.1409A>G" "r.(?)" "p.(Asn470Ser)" "" "0000998933" "00024172" "30" "1462" "0" "1462" "0" "c.1462T>G" "r.(?)" "p.(Cys488Gly)" "" "0000998934" "00024172" "30" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "" "0001025949" "00024172" "50" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Ser)" "" "0001038380" "00024172" "30" "666" "0" "666" "0" "c.666G>A" "r.(?)" "p.(=)" "" "0001038381" "00024172" "50" "1697" "0" "1697" "0" "c.1697T>A" "r.(?)" "p.(Leu566His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000081535" "0000132191" "0000089252" "0000147175"