### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCND3) # 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}}" "KCND3" "potassium voltage-gated channel, Shal-related subfamily, member 3" "1" "p13.2" "unknown" "LRG_445" "UD_132319142618" "" "https://www.LOVD.nl/KCND3" "" "1" "6239" "3752" "605411" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/KCND3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-01-17 00:00:00" "00006" "2017-07-04 20:36:22" "00000" "2025-07-08 13:22:38" ## 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}}" "00024248" "KCND3" "transcript variant 1" "005" "NM_004980.4" "" "NP_004971.2" "" "" "" "-480" "2213" "1968" "112531777" "112318454" "00006" "2017-04-22 16:07:10" "" "" ## 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" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02651" "SCA19" "ataxia, spinocerebellar, type 19 (SCA-19)" "AD" "607346" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04540" "BRGDA9" "Brugada syndrome, type 9 (BRGDA-9)" "AD" "616399" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KCND3" "02651" "KCND3" "04540" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00103917" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH6435_1" "00107885" "" "" "" "1" "" "02068" "" "" "M" "" "United States" "" "0" "" "" "white" "" "00107886" "" "" "" "1" "" "02068" "" "" "M" "" "United States" "" "0" "" "" "African American" "" "00107887" "" "" "" "1" "" "02068" "" "" "M" "" "United States" "" "0" "" "" "white" "" "00132965" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00408677" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat50" "00453425" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00103917" "00198" "00107885" "02087" "00107886" "02087" "00107887" "02087" "00132965" "00198" "00408677" "00198" "00453425" "05356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02087, 02651, 04540, 05356 ## Count = 7 "{{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}}" "0000081844" "00198" "00103917" "00006" "Familial, autosomal recessive" "" "developmental delay, epilepsy, ataxia, mitochondrial dysfunction" "" "" "" "" "" "" "" "" "" "" "" "0000085639" "02087" "00107885" "02068" "Unknown" "" "sudden unexplained death syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085640" "02087" "00107886" "02068" "Unknown" "" "sudden infant death syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000085641" "02087" "00107887" "02068" "Unknown" "" "sudden unexplained death syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000105726" "00198" "00132965" "01807" "Unknown" "" "Delayed speech and language development (HP:0000750); Gait ataxia (HP:0002066)" "" "" "" "" "" "" "" "" "" "" "" "0000300795" "00198" "00408677" "00006" "Unknown" "" "" "40y" "" "" "" "" "" "" "" "SCA19" "cerebellar ataxia" "" "0000342088" "05356" "00453425" "03544" "Isolated (sporadic)" "" "HP:0007240, HP:0001250, HP:0001260, HP:0002015, HP:0000508, HP:0001268, HP:0002120, HP:0003473" "" "" "" "" "" "" "" "" "SCA19" "ataxia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104375" "00103917" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000108354" "00107885" "1" "02068" "02068" "2012-01-20 16:53:28" "00004" "2012-01-21 14:43:34" "DHPLC;SEQ" "DNA" "" "" "0000108355" "00107886" "1" "02068" "02068" "2012-01-20 16:55:26" "00004" "2012-01-21 14:45:40" "DHPLC;SEQ" "DNA" "" "" "0000108356" "00107887" "1" "02068" "02068" "2012-01-20 16:57:15" "00004" "2012-01-21 14:46:32" "DHPLC;SEQ" "DNA" "" "" "0000133799" "00132965" "0" "01807" "01807" "2017-11-10 16:51:18" "" "" "SEQ" "DNA" "" "" "0000409939" "00408677" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ-NG" "DNA" "" "clincal WES" "0000455036" "00453425" "1" "03544" "03544" "2024-08-26 07:15:53" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000104375" "KCND3" "0000104375" "PMPCA" "0000108354" "KCND3" "0000108355" "KCND3" "0000108356" "KCND3" ## 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 = 97 "{{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}}" "0000169055" "1" "90" "1" "112329682" "112329682" "subst" "0" "00006" "KCND3_000004" "g.112329682A>G" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.111787060A>G" "" "pathogenic" "" "0000174280" "0" "70" "1" "112329661" "112329661" "subst" "0" "02068" "KCND3_000001" "g.112329661C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.111787039C>T" "" "likely pathogenic" "" "0000174281" "0" "30" "1" "112319826" "112319826" "subst" "0" "02068" "KCND3_000002" "g.112319826A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.111777204A>G" "" "likely benign" "" "0000174282" "0" "70" "1" "112318869" "112318869" "subst" "6.51026E-5" "02068" "KCND3_000003" "g.112318869C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.111776247C>T" "" "likely pathogenic" "" "0000223227" "0" "70" "1" "112524439" "112524439" "subst" "0" "01807" "KCND3_000005" "g.112524439A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.111981817A>G" "" "likely pathogenic" "" "0000278267" "0" "10" "1" "112524287" "112524287" "subst" "4.46664E-5" "02330" "KCND3_000015" "g.112524287G>T" "" "" "" "KCND3(NM_004980.4):c.1062C>A (p.I354=), KCND3(NM_004980.5):c.1062C>A (p.I354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111981665G>T" "" "benign" "" "0000278268" "0" "10" "1" "112329552" "112329552" "subst" "2.84504E-5" "02330" "KCND3_000013" "g.112329552C>T" "" "" "" "KCND3(NM_004980.5):c.1269+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111786930C>T" "" "benign" "" "0000278269" "0" "10" "1" "112329551" "112329551" "subst" "0.162738" "02330" "KCND3_000012" "g.112329551G>T" "" "" "" "KCND3(NM_004980.4):c.1269+15C>A, KCND3(NM_004980.5):c.1269+15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111786929G>T" "" "benign" "" "0000278270" "0" "10" "1" "112323360" "112323360" "subst" "0.00306851" "02330" "KCND3_000011" "g.112323360G>A" "" "" "" "KCND3(NM_004980.4):c.1323C>T (p.Y441=), KCND3(NM_004980.5):c.1323C>T (p.Y441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111780738G>A" "" "benign" "" "0000278272" "0" "30" "1" "112322852" "112322852" "subst" "0.000618263" "02330" "KCND3_000009" "g.112322852T>C" "" "" "" "KCND3(NM_004980.4):c.1456A>G (p.T486A), KCND3(NM_004980.5):c.1456A>G (p.T486A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111780230T>C" "" "likely benign" "" "0000278273" "0" "10" "1" "112321064" "112321064" "subst" "0" "02330" "KCND3_000008" "g.112321064G>A" "" "" "" "KCND3(NM_004980.5):c.1512C>T (p.T504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111778442G>A" "" "benign" "" "0000278274" "0" "50" "1" "112319792" "112319792" "subst" "0" "02330" "KCND3_000007" "g.112319792C>T" "" "" "" "KCND3(NM_004980.5):c.1622G>A (p.G541D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111777170C>T" "" "VUS" "" "0000278275" "0" "50" "1" "112319784" "112319784" "subst" "0" "02330" "KCND3_000006" "g.112319784T>C" "" "" "" "KCND3(NM_004980.5):c.1630A>G (p.T544A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111777162T>C" "" "VUS" "" "0000278276" "0" "10" "1" "112525085" "112525085" "subst" "0.0843774" "02330" "KCND3_000025" "g.112525085G>A" "" "" "" "KCND3(NM_004980.4):c.264C>T (p.P88=), KCND3(NM_004980.5):c.264C>T (p.P88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111982463G>A" "" "benign" "" "0000278277" "0" "10" "1" "112525028" "112525028" "subst" "1.6246E-5" "02330" "KCND3_000024" "g.112525028G>T" "" "" "" "KCND3(NM_004980.4):c.321C>A (p.R107=), KCND3(NM_004980.5):c.321C>A (p.R107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111982406G>T" "" "benign" "" "0000278278" "0" "10" "1" "112524974" "112524974" "subst" "0.0182092" "02330" "KCND3_000023" "g.112524974C>T" "" "" "" "KCND3(NM_004980.4):c.375G>A (p.P125=), KCND3(NM_004980.5):c.375G>A (p.P125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111982352C>T" "" "benign" "" "0000278279" "0" "50" "1" "112524849" "112524849" "subst" "0" "02330" "KCND3_000022" "g.112524849T>G" "" "" "" "KCND3(NM_004980.5):c.500A>C (p.Q167P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111982227T>G" "" "VUS" "" "0000278280" "0" "10" "1" "112524680" "112524680" "subst" "0.0139206" "02330" "KCND3_000021" "g.112524680C>G" "" "" "" "KCND3(NM_004980.4):c.669G>C (p.S223=), KCND3(NM_004980.5):c.669G>C (p.S223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111982058C>G" "" "benign" "" "0000278281" "0" "10" "1" "112524479" "112524479" "subst" "0.000207197" "02330" "KCND3_000020" "g.112524479C>A" "" "" "" "KCND3(NM_004980.5):c.870G>T (p.R290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111981857C>A" "" "benign" "" "0000278282" "0" "10" "1" "112524392" "112524392" "subst" "3.24849E-5" "02330" "KCND3_000017" "g.112524392G>A" "" "" "" "KCND3(NM_004980.5):c.957C>T (p.S319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111981770G>A" "" "benign" "" "0000278283" "0" "30" "1" "112525253" "112525253" "subst" "0.000109946" "02330" "KCND3_000026" "g.112525253G>A" "" "" "" "KCND3(NM_004980.5):c.96C>T (p.A32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111982631G>A" "" "likely benign" "" "0000281711" "0" "70" "1" "112329666" "112329666" "subst" "0" "02325" "KCND3_000014" "g.112329666C>T" "" "" "" "KCND3(NM_004980.5):c.1169G>A (p.S390N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111787044C>T" "" "likely pathogenic" "" "0000285496" "0" "70" "1" "112524432" "112524432" "subst" "0" "02326" "KCND3_000019" "g.112524432C>A" "" "" "" "KCND3(NM_004980.4):c.917G>T (p.G306V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111981810C>A" "" "likely pathogenic" "" "0000290039" "0" "50" "1" "112524291" "112524291" "subst" "0" "01943" "KCND3_000016" "g.112524291C>A" "" "" "" "KCND3(NM_004980.4):c.1058G>T (p.S353I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111981669C>A" "" "VUS" "" "0000290040" "0" "10" "1" "112329551" "112329551" "subst" "0.162738" "01943" "KCND3_000012" "g.112329551G>T" "" "" "" "KCND3(NM_004980.4):c.1269+15C>A, KCND3(NM_004980.5):c.1269+15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111786929G>T" "" "benign" "" "0000290041" "0" "10" "1" "112323360" "112323360" "subst" "0.00306851" "01943" "KCND3_000011" "g.112323360G>A" "" "" "" "KCND3(NM_004980.4):c.1323C>T (p.Y441=), KCND3(NM_004980.5):c.1323C>T (p.Y441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111780738G>A" "" "benign" "" "0000290043" "0" "10" "1" "112525085" "112525085" "subst" "0.0843774" "01943" "KCND3_000025" "g.112525085G>A" "" "" "" "KCND3(NM_004980.4):c.264C>T (p.P88=), KCND3(NM_004980.5):c.264C>T (p.P88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111982463G>A" "" "benign" "" "0000290044" "0" "10" "1" "112524974" "112524974" "subst" "0.0182092" "01943" "KCND3_000023" "g.112524974C>T" "" "" "" "KCND3(NM_004980.4):c.375G>A (p.P125=), KCND3(NM_004980.5):c.375G>A (p.P125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111982352C>T" "" "benign" "" "0000290045" "0" "10" "1" "112524680" "112524680" "subst" "0.0139206" "01943" "KCND3_000021" "g.112524680C>G" "" "" "" "KCND3(NM_004980.4):c.669G>C (p.S223=), KCND3(NM_004980.5):c.669G>C (p.S223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111982058C>G" "" "benign" "" "0000290046" "0" "30" "1" "112524392" "112524392" "subst" "0.000974548" "01943" "KCND3_000018" "g.112524392G>C" "" "" "" "KCND3(NM_004980.4):c.957C>G (p.S319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111981770G>C" "" "likely benign" "" "0000339159" "0" "50" "1" "112524738" "112524738" "subst" "0" "02327" "KCND3_000031" "g.112524738G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111982116G>C" "" "VUS" "" "0000342394" "0" "50" "1" "112524619" "112524619" "subst" "0" "02327" "KCND3_000030" "g.112524619G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111981997G>A" "" "VUS" "" "0000347099" "0" "50" "1" "112524420" "112524420" "subst" "0" "02327" "KCND3_000028" "g.112524420A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111981798A>G" "" "VUS" "" "0000349474" "0" "90" "1" "112524252" "112524252" "subst" "0" "02327" "KCND3_000027" "g.112524252G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111981630G>A" "" "pathogenic" "" "0000350458" "0" "90" "1" "112524469" "112524469" "subst" "0" "02327" "KCND3_000029" "g.112524469C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111981847C>A" "" "pathogenic" "" "0000350843" "0" "10" "1" "112531507" "112531507" "subst" "0" "02327" "KCND3_000032" "g.112531507C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111988885C>A" "" "benign" "" "0000502473" "0" "50" "1" "112318869" "112318869" "subst" "6.51026E-5" "02330" "KCND3_000003" "g.112318869C>T" "" "" "" "KCND3(NM_004980.5):c.1798G>A (p.G600R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111776247C>T" "" "VUS" "" "0000502474" "0" "30" "1" "112319841" "112319841" "subst" "0.000146289" "02326" "KCND3_000033" "g.112319841T>C" "" "" "" "KCND3(NM_004980.4):c.1573A>G (p.M525V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111777219T>C" "" "likely benign" "" "0000502475" "0" "50" "1" "112319889" "112319889" "subst" "8.1363E-6" "02330" "KCND3_000034" "g.112319889C>T" "" "" "" "KCND3(NM_004980.5):c.1525G>A (p.E509K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111777267C>T" "" "VUS" "" "0000502476" "0" "10" "1" "112319899" "112319899" "subst" "0.00311406" "02330" "KCND3_000035" "g.112319899C>A" "" "" "" "KCND3(NM_004980.4):c.1519-4G>T, KCND3(NM_004980.5):c.1519-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111777277C>A" "" "benign" "" "0000502477" "0" "10" "1" "112319899" "112319899" "subst" "0.00311406" "01943" "KCND3_000035" "g.112319899C>A" "" "" "" "KCND3(NM_004980.4):c.1519-4G>T, KCND3(NM_004980.5):c.1519-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111777277C>A" "" "benign" "" "0000502478" "0" "30" "1" "112322870" "112322870" "subst" "0" "01943" "KCND3_000036" "g.112322870G>A" "" "" "" "KCND3(NM_004980.4):c.1438C>T (p.L480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111780248G>A" "" "likely benign" "" "0000502479" "0" "10" "1" "112322948" "112322948" "dup" "0" "02330" "KCND3_000037" "g.112322948dup" "" "" "" "KCND3(NM_004980.4):c.1372-6dupT, KCND3(NM_004980.5):c.1372-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111780326dup" "" "benign" "" "0000502480" "0" "30" "1" "112322948" "112322948" "dup" "0" "01943" "KCND3_000037" "g.112322948dup" "" "" "" "KCND3(NM_004980.4):c.1372-6dupT, KCND3(NM_004980.5):c.1372-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111780326dup" "" "likely benign" "" "0000502481" "0" "50" "1" "112323335" "112323335" "subst" "0.000140261" "02330" "KCND3_000038" "g.112323335G>A" "" "" "" "KCND3(NM_004980.4):c.1348C>T (p.L450F), KCND3(NM_004980.5):c.1348C>T (p.L450F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111780713G>A" "" "VUS" "" "0000502482" "0" "50" "1" "112323391" "112323391" "subst" "5.31489E-5" "02325" "KCND3_000039" "g.112323391C>T" "" "" "" "KCND3(NM_004980.5):c.1292G>A (p.R431H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111780769C>T" "" "VUS" "" "0000502483" "0" "70" "1" "112329716" "112329716" "subst" "0" "02327" "KCND3_000040" "g.112329716C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111787094C>T" "" "likely pathogenic" "" "0000502484" "0" "10" "1" "112524232" "112524232" "subst" "1.62472E-5" "02330" "KCND3_000041" "g.112524232C>T" "" "" "" "KCND3(NM_004980.5):c.1106+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111981610C>T" "" "benign" "" "0000502485" "0" "10" "1" "112524233" "112524233" "subst" "0.000117793" "02330" "KCND3_000042" "g.112524233G>A" "" "" "" "KCND3(NM_001378969.1):c.1106+10C>T, KCND3(NM_004980.4):c.1106+10C>T, KCND3(NM_004980.5):c.1106+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111981611G>A" "" "benign" "" "0000502486" "0" "30" "1" "112524287" "112524287" "subst" "4.46664E-5" "02326" "KCND3_000015" "g.112524287G>T" "" "" "" "KCND3(NM_004980.4):c.1062C>A (p.I354=), KCND3(NM_004980.5):c.1062C>A (p.I354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111981665G>T" "" "likely benign" "" "0000502487" "0" "10" "1" "112524323" "112524323" "subst" "4.06068E-6" "02330" "KCND3_000043" "g.112524323G>A" "" "" "" "KCND3(NM_004980.5):c.1026C>T (p.A342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111981701G>A" "" "benign" "" "0000502488" "0" "10" "1" "112524560" "112524560" "subst" "9.3521E-5" "02330" "KCND3_000044" "g.112524560G>A" "" "" "" "KCND3(NM_004980.5):c.789C>T (p.D263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111981938G>A" "" "benign" "" "0000502489" "0" "30" "1" "112524708" "112524708" "subst" "0.000195781" "01943" "KCND3_000045" "g.112524708T>C" "" "" "" "KCND3(NM_004980.4):c.641A>G (p.K214R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982086T>C" "" "likely benign" "" "0000502490" "0" "30" "1" "112524708" "112524708" "subst" "0.000195781" "02326" "KCND3_000045" "g.112524708T>C" "" "" "" "KCND3(NM_004980.4):c.641A>G (p.K214R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982086T>C" "" "likely benign" "" "0000502491" "0" "10" "1" "112524722" "112524722" "subst" "0.000399677" "02330" "KCND3_000046" "g.112524722C>G" "" "" "" "KCND3(NM_004980.4):c.627G>C (p.T209=), KCND3(NM_004980.5):c.627G>C (p.T209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982100C>G" "" "benign" "" "0000502492" "0" "30" "1" "112524722" "112524722" "subst" "0.000399677" "02326" "KCND3_000046" "g.112524722C>G" "" "" "" "KCND3(NM_004980.4):c.627G>C (p.T209=), KCND3(NM_004980.5):c.627G>C (p.T209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982100C>G" "" "likely benign" "" "0000502493" "0" "10" "1" "112524890" "112524890" "subst" "0.000142227" "02330" "KCND3_000047" "g.112524890C>T" "" "" "" "KCND3(NM_004980.5):c.459G>A (p.S153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982268C>T" "" "benign" "" "0000502494" "0" "10" "1" "112525232" "112525232" "subst" "0.000296767" "02330" "KCND3_000048" "g.112525232A>G" "" "" "" "KCND3(NM_004980.4):c.117T>C (p.D39=), KCND3(NM_004980.5):c.117T>C (p.D39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982610A>G" "" "benign" "" "0000502495" "0" "30" "1" "112525232" "112525232" "subst" "0.000296767" "02326" "KCND3_000048" "g.112525232A>G" "" "" "" "KCND3(NM_004980.4):c.117T>C (p.D39=), KCND3(NM_004980.5):c.117T>C (p.D39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982610A>G" "" "likely benign" "" "0000502496" "0" "30" "1" "112525344" "112525344" "subst" "0.000505383" "02330" "KCND3_000049" "g.112525344G>T" "" "" "" "KCND3(NM_001378969.1):c.5C>A (p.(Ala2Glu)), KCND3(NM_004980.4):c.5C>A (p.A2E), KCND3(NM_004980.5):c.5C>A (p.A2E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982722G>T" "" "likely benign" "" "0000502497" "0" "50" "1" "112525344" "112525344" "subst" "0.000505383" "01943" "KCND3_000049" "g.112525344G>T" "" "" "" "KCND3(NM_001378969.1):c.5C>A (p.(Ala2Glu)), KCND3(NM_004980.4):c.5C>A (p.A2E), KCND3(NM_004980.5):c.5C>A (p.A2E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982722G>T" "" "VUS" "" "0000502498" "0" "30" "1" "112525344" "112525344" "subst" "0.000505383" "02325" "KCND3_000049" "g.112525344G>T" "" "" "" "KCND3(NM_001378969.1):c.5C>A (p.(Ala2Glu)), KCND3(NM_004980.4):c.5C>A (p.A2E), KCND3(NM_004980.5):c.5C>A (p.A2E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982722G>T" "" "likely benign" "" "0000604657" "0" "70" "1" "112319765" "112319765" "subst" "4.46751E-5" "02327" "KCND3_000050" "g.112319765C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111777143C>T" "" "likely pathogenic" "" "0000604658" "0" "50" "1" "112321074" "112321074" "subst" "2.84294E-5" "02327" "KCND3_000051" "g.112321074C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111778452C>T" "" "VUS" "" "0000604659" "0" "30" "1" "112323419" "112323419" "subst" "0" "02327" "KCND3_000052" "g.112323419A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111780797A>G" "" "likely benign" "" "0000604660" "0" "30" "1" "112524287" "112524287" "subst" "4.46664E-5" "02327" "KCND3_000015" "g.112524287G>T" "" "" "" "KCND3(NM_004980.4):c.1062C>A (p.I354=), KCND3(NM_004980.5):c.1062C>A (p.I354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111981665G>T" "" "likely benign" "" "0000604661" "0" "50" "1" "112525306" "112525306" "subst" "0" "02327" "KCND3_000054" "g.112525306C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982684C>T" "" "VUS" "" "0000604662" "0" "30" "1" "112525340" "112525340" "subst" "3.08335E-5" "02327" "KCND3_000055" "g.112525340G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982718G>A" "" "likely benign" "" "0000620337" "0" "30" "1" "112524698" "112524698" "subst" "4.48602E-5" "02326" "KCND3_000053" "g.112524698C>T" "" "" "" "KCND3(NM_004980.4):c.651G>A (p.P217=), KCND3(NM_004980.5):c.651G>A (p.P217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111982076C>T" "" "likely benign" "" "0000675402" "0" "10" "1" "112329674" "112329674" "subst" "0" "02330" "KCND3_000056" "g.112329674G>A" "" "" "" "KCND3(NM_004980.5):c.1161C>T (p.C387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000675403" "0" "70" "1" "112524259" "112524259" "subst" "0" "01804" "KCND3_000057" "g.112524259T>C" "" "" "" "KCND3(NM_004980.4):c.1090A>G (p.(Thr364Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000687806" "0" "70" "1" "112329672" "112329672" "subst" "0" "02327" "KCND3_000058" "g.112329672G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000716686" "0" "50" "1" "112524250" "112524250" "subst" "0" "01943" "KCND3_000059" "g.112524250T>C" "" "" "" "KCND3(NM_004980.4):c.1099A>G (p.T367A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798661" "0" "30" "1" "112524233" "112524233" "subst" "0.000117793" "01943" "KCND3_000042" "g.112524233G>A" "" "" "" "KCND3(NM_001378969.1):c.1106+10C>T, KCND3(NM_004980.4):c.1106+10C>T, KCND3(NM_004980.5):c.1106+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798662" "0" "30" "1" "112525001" "112525001" "subst" "2.03082E-5" "02326" "KCND3_000061" "g.112525001G>A" "" "" "" "KCND3(NM_004980.4):c.348C>T (p.D116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000847155" "0" "90" "1" "112524279" "112524279" "subst" "0" "00006" "KCND3_000062" "g.112524279G>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.111981657G>A" "" "pathogenic" "ACMG" "0000848232" "0" "50" "1" "112322852" "112322852" "subst" "0.000618263" "01943" "KCND3_000009" "g.112322852T>C" "" "" "" "KCND3(NM_004980.4):c.1456A>G (p.T486A), KCND3(NM_004980.5):c.1456A>G (p.T486A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882682" "0" "90" "1" "112524470" "112524478" "dup" "0" "02327" "KCND3_000063" "g.112524470_112524478dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000910741" "0" "10" "1" "112318708" "112318708" "subst" "0.000264432" "02330" "KCND3_000064" "g.112318708G>A" "" "" "" "KCND3(NM_004980.5):c.1959C>T (p.S653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910742" "0" "70" "1" "112329661" "112329661" "subst" "0" "02327" "KCND3_000001" "g.112329661C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000910743" "0" "70" "1" "112524391" "112524391" "subst" "0" "02327" "KCND3_000065" "g.112524391C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000910744" "0" "10" "1" "112524698" "112524698" "subst" "4.48602E-5" "02330" "KCND3_000053" "g.112524698C>T" "" "" "" "KCND3(NM_004980.4):c.651G>A (p.P217=), KCND3(NM_004980.5):c.651G>A (p.P217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000922913" "0" "50" "1" "112318869" "112318869" "subst" "6.51026E-5" "02325" "KCND3_000003" "g.112318869C>T" "" "" "" "KCND3(NM_004980.5):c.1798G>A (p.G600R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922914" "0" "30" "1" "112525028" "112525028" "subst" "1.6246E-5" "02326" "KCND3_000024" "g.112525028G>T" "" "" "" "KCND3(NM_004980.4):c.321C>A (p.R107=), KCND3(NM_004980.5):c.321C>A (p.R107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927976" "0" "50" "1" "112319678" "112319678" "subst" "0" "02327" "KCND3_000066" "g.112319678T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927977" "0" "30" "1" "112525344" "112525344" "subst" "0.000505383" "02326" "KCND3_000049" "g.112525344G>T" "" "" "" "KCND3(NM_001378969.1):c.5C>A (p.(Ala2Glu)), KCND3(NM_004980.4):c.5C>A (p.A2E), KCND3(NM_004980.5):c.5C>A (p.A2E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946930" "0" "30" "1" "112322852" "112322852" "subst" "0.000618263" "02326" "KCND3_000009" "g.112322852T>C" "" "" "" "KCND3(NM_004980.4):c.1456A>G (p.T486A), KCND3(NM_004980.5):c.1456A>G (p.T486A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946931" "0" "10" "1" "112524815" "112524815" "subst" "0" "02330" "KCND3_000067" "g.112524815G>A" "" "" "" "KCND3(NM_004980.5):c.534C>T (p.T178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960380" "0" "50" "1" "112322855" "112322855" "subst" "0" "02330" "KCND3_000068" "g.112322855T>C" "" "" "" "KCND3(NM_004980.5):c.1453A>G (p.K485E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973181" "0" "30" "1" "112322852" "112322852" "subst" "0.000618263" "02325" "KCND3_000009" "g.112322852T>C" "" "" "" "KCND3(NM_004980.4):c.1456A>G (p.T486A), KCND3(NM_004980.5):c.1456A>G (p.T486A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973182" "0" "30" "1" "112524233" "112524233" "subst" "0.000117793" "01804" "KCND3_000042" "g.112524233G>A" "" "" "" "KCND3(NM_001378969.1):c.1106+10C>T, KCND3(NM_004980.4):c.1106+10C>T, KCND3(NM_004980.5):c.1106+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973183" "0" "30" "1" "112525344" "112525344" "subst" "0.000505383" "01804" "KCND3_000049" "g.112525344G>T" "" "" "" "KCND3(NM_001378969.1):c.5C>A (p.(Ala2Glu)), KCND3(NM_004980.4):c.5C>A (p.A2E), KCND3(NM_004980.5):c.5C>A (p.A2E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990011" "0" "70" "1" "112524333" "112524333" "subst" "0" "03544" "KCND3_000071" "g.112524333A>G" "" "" "" "" "borderline classification VUS-likely pathogenic" "Germline" "yes" "" "0" "" "" "g.111981711A>G" "" "likely pathogenic (!)" "ACMG" "0000990109" "0" "30" "1" "112318730" "112318730" "subst" "0" "01804" "KCND3_000069" "g.112318730G>A" "" "" "" "KCND3(NM_004980.4):c.1937C>T (p.(Ala646Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990110" "0" "30" "1" "112329662" "112329662" "subst" "0" "02330" "KCND3_000070" "g.112329662G>T" "" "" "" "KCND3(NM_004980.5):c.1173C>A (p.G391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024011" "0" "50" "1" "112323335" "112323335" "subst" "0.000140261" "01943" "KCND3_000038" "g.112323335G>A" "" "" "" "KCND3(NM_004980.4):c.1348C>T (p.L450F), KCND3(NM_004980.5):c.1348C>T (p.L450F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045586" "0" "50" "1" "112524562" "112524562" "subst" "0" "02325" "KCND3_000072" "g.112524562C>T" "" "" "" "KCND3(NM_004980.5):c.787G>A (p.D263N)" "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 KCND3 ## Count = 97 "{{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}}" "0000169055" "00024248" "90" "1153" "0" "1153" "0" "c.1153T>C" "r.(?)" "p.(Ser385Pro)" "3" "0000174280" "00024248" "70" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "3" "0000174281" "00024248" "30" "1588" "0" "1588" "0" "c.1588T>C" "r.(?)" "p.(Ser530Pro)" "7" "0000174282" "00024248" "70" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Gly600Arg)" "8" "0000223227" "00024248" "70" "910" "0" "910" "0" "c.910T>C" "r.(?)" "p.(Ser304Pro)" "" "0000278267" "00024248" "10" "1062" "0" "1062" "0" "c.1062C>A" "r.(?)" "p.(Ile354=)" "" "0000278268" "00024248" "10" "1269" "14" "1269" "14" "c.1269+14G>A" "r.(=)" "p.(=)" "" "0000278269" "00024248" "10" "1269" "15" "1269" "15" "c.1269+15C>A" "r.(=)" "p.(=)" "" "0000278270" "00024248" "10" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Tyr441=)" "" "0000278272" "00024248" "30" "1456" "0" "1456" "0" "c.1456A>G" "r.(?)" "p.(Thr486Ala)" "" "0000278273" "00024248" "10" "1512" "0" "1512" "0" "c.1512C>T" "r.(?)" "p.(Thr504=)" "" "0000278274" "00024248" "50" "1622" "0" "1622" "0" "c.1622G>A" "r.(?)" "p.(Gly541Asp)" "" "0000278275" "00024248" "50" "1630" "0" "1630" "0" "c.1630A>G" "r.(?)" "p.(Thr544Ala)" "" "0000278276" "00024248" "10" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Pro88=)" "" "0000278277" "00024248" "10" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Arg107=)" "" "0000278278" "00024248" "10" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Pro125=)" "" "0000278279" "00024248" "50" "500" "0" "500" "0" "c.500A>C" "r.(?)" "p.(Gln167Pro)" "" "0000278280" "00024248" "10" "669" "0" "669" "0" "c.669G>C" "r.(?)" "p.(Ser223=)" "" "0000278281" "00024248" "10" "870" "0" "870" "0" "c.870G>T" "r.(?)" "p.(Arg290=)" "" "0000278282" "00024248" "10" "957" "0" "957" "0" "c.957C>T" "r.(?)" "p.(Ser319=)" "" "0000278283" "00024248" "30" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Ala32=)" "" "0000281711" "00024248" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Ser390Asn)" "" "0000285496" "00024248" "70" "917" "0" "917" "0" "c.917G>T" "r.(?)" "p.(Gly306Val)" "" "0000290039" "00024248" "50" "1058" "0" "1058" "0" "c.1058G>T" "r.(?)" "p.(Ser353Ile)" "" "0000290040" "00024248" "10" "1269" "15" "1269" "15" "c.1269+15C>A" "r.(=)" "p.(=)" "" "0000290041" "00024248" "10" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Tyr441=)" "" "0000290043" "00024248" "10" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Pro88=)" "" "0000290044" "00024248" "10" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Pro125=)" "" "0000290045" "00024248" "10" "669" "0" "669" "0" "c.669G>C" "r.(?)" "p.(Ser223=)" "" "0000290046" "00024248" "30" "957" "0" "957" "0" "c.957C>G" "r.(?)" "p.(Ser319=)" "" "0000339159" "00024248" "50" "611" "0" "611" "0" "c.611C>G" "r.(?)" "p.(Thr204Arg)" "" "0000342394" "00024248" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Trp)" "" "0000347099" "00024248" "50" "929" "0" "929" "0" "c.929T>C" "r.(?)" "p.(Leu310Pro)" "" "0000349474" "00024248" "90" "1097" "0" "1097" "0" "c.1097C>T" "r.(?)" "p.(Thr366Ile)" "" "0000350458" "00024248" "90" "880" "0" "880" "0" "c.880G>T" "r.(?)" "p.(Val294Phe)" "" "0000350843" "00024248" "10" "-210" "0" "-210" "0" "c.-210G>T" "r.(?)" "p.(=)" "" "0000502473" "00024248" "50" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Gly600Arg)" "" "0000502474" "00024248" "30" "1573" "0" "1573" "0" "c.1573A>G" "r.(?)" "p.(Met525Val)" "" "0000502475" "00024248" "50" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Glu509Lys)" "" "0000502476" "00024248" "10" "1519" "-4" "1519" "-4" "c.1519-4G>T" "r.spl?" "p.?" "" "0000502477" "00024248" "10" "1519" "-4" "1519" "-4" "c.1519-4G>T" "r.spl?" "p.?" "" "0000502478" "00024248" "30" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.(Leu480=)" "" "0000502479" "00024248" "10" "1372" "-6" "1372" "-6" "c.1372-6dup" "r.(=)" "p.(=)" "" "0000502480" "00024248" "30" "1372" "-6" "1372" "-6" "c.1372-6dup" "r.(=)" "p.(=)" "" "0000502481" "00024248" "50" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Leu450Phe)" "" "0000502482" "00024248" "50" "1292" "0" "1292" "0" "c.1292G>A" "r.(?)" "p.(Arg431His)" "" "0000502483" "00024248" "70" "1119" "0" "1119" "0" "c.1119G>A" "r.(?)" "p.(Met373Ile)" "" "0000502484" "00024248" "10" "1106" "11" "1106" "11" "c.1106+11G>A" "r.(=)" "p.(=)" "" "0000502485" "00024248" "10" "1106" "10" "1106" "10" "c.1106+10C>T" "r.(=)" "p.(=)" "" "0000502486" "00024248" "30" "1062" "0" "1062" "0" "c.1062C>A" "r.(?)" "p.(Ile354=)" "" "0000502487" "00024248" "10" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ala342=)" "" "0000502488" "00024248" "10" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Asp263=)" "" "0000502489" "00024248" "30" "641" "0" "641" "0" "c.641A>G" "r.(?)" "p.(Lys214Arg)" "" "0000502490" "00024248" "30" "641" "0" "641" "0" "c.641A>G" "r.(?)" "p.(Lys214Arg)" "" "0000502491" "00024248" "10" "627" "0" "627" "0" "c.627G>C" "r.(?)" "p.(Thr209=)" "" "0000502492" "00024248" "30" "627" "0" "627" "0" "c.627G>C" "r.(?)" "p.(Thr209=)" "" "0000502493" "00024248" "10" "459" "0" "459" "0" "c.459G>A" "r.(?)" "p.(Ser153=)" "" "0000502494" "00024248" "10" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Asp39=)" "" "0000502495" "00024248" "30" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Asp39=)" "" "0000502496" "00024248" "30" "5" "0" "5" "0" "c.5C>A" "r.(?)" "p.(Ala2Glu)" "" "0000502497" "00024248" "50" "5" "0" "5" "0" "c.5C>A" "r.(?)" "p.(Ala2Glu)" "" "0000502498" "00024248" "30" "5" "0" "5" "0" "c.5C>A" "r.(?)" "p.(Ala2Glu)" "" "0000604657" "00024248" "70" "1649" "0" "1649" "0" "c.1649G>A" "r.(?)" "p.(Arg550His)" "" "0000604658" "00024248" "50" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Arg501Gln)" "" "0000604659" "00024248" "30" "1270" "-6" "1270" "-6" "c.1270-6T>C" "r.(=)" "p.(=)" "" "0000604660" "00024248" "30" "1062" "0" "1062" "0" "c.1062C>A" "r.(?)" "p.(Ile354=)" "" "0000604661" "00024248" "50" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Ala15Thr)" "" "0000604662" "00024248" "30" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Ala3=)" "" "0000620337" "00024248" "30" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Pro217=)" "" "0000675402" "00024248" "10" "1161" "0" "1161" "0" "c.1161C>T" "r.(?)" "p.(Cys387=)" "" "0000675403" "00024248" "70" "1090" "0" "1090" "0" "c.1090A>G" "r.(?)" "p.(Thr364Ala)" "" "0000687806" "00024248" "70" "1163" "0" "1163" "0" "c.1163C>T" "r.(?)" "p.(Ser388Phe)" "" "0000716686" "00024248" "50" "1099" "0" "1099" "0" "c.1099A>G" "r.(?)" "p.(Thr367Ala)" "" "0000798661" "00024248" "30" "1106" "10" "1106" "10" "c.1106+10C>T" "r.(=)" "p.(=)" "" "0000798662" "00024248" "30" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(Asp116=)" "" "0000847155" "00024248" "90" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Ser357Leu)" "" "0000848232" "00024248" "50" "1456" "0" "1456" "0" "c.1456A>G" "r.(?)" "p.(Thr486Ala)" "" "0000882682" "00024248" "90" "877" "0" "885" "0" "c.877_885dup" "r.(?)" "p.(Val294_Arg296dup)" "" "0000910741" "00024248" "10" "1959" "0" "1959" "0" "c.1959C>T" "r.(?)" "p.(Ser653=)" "" "0000910742" "00024248" "70" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "" "0000910743" "00024248" "70" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Glu320Lys)" "" "0000910744" "00024248" "10" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Pro217=)" "" "0000922913" "00024248" "50" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Gly600Arg)" "" "0000922914" "00024248" "30" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Arg107=)" "" "0000927976" "00024248" "50" "1736" "0" "1736" "0" "c.1736A>G" "r.(?)" "p.(Gln579Arg)" "" "0000927977" "00024248" "30" "5" "0" "5" "0" "c.5C>A" "r.(?)" "p.(Ala2Glu)" "" "0000946930" "00024248" "30" "1456" "0" "1456" "0" "c.1456A>G" "r.(?)" "p.(Thr486Ala)" "" "0000946931" "00024248" "10" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(=)" "" "0000960380" "00024248" "50" "1453" "0" "1453" "0" "c.1453A>G" "r.(?)" "p.(Lys485Glu)" "" "0000973181" "00024248" "30" "1456" "0" "1456" "0" "c.1456A>G" "r.(?)" "p.(Thr486Ala)" "" "0000973182" "00024248" "30" "1106" "10" "1106" "10" "c.1106+10C>T" "r.(=)" "p.(=)" "" "0000973183" "00024248" "30" "5" "0" "5" "0" "c.5C>A" "r.(?)" "p.(Ala2Glu)" "" "0000990011" "00024248" "70" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Met339Thr)" "2" "0000990109" "00024248" "30" "1937" "0" "1937" "0" "c.1937C>T" "r.(?)" "p.(Ala646Val)" "" "0000990110" "00024248" "30" "1173" "0" "1173" "0" "c.1173C>A" "r.(?)" "p.(=)" "" "0001024011" "00024248" "50" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Leu450Phe)" "" "0001045586" "00024248" "50" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Asp263Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000104375" "0000169055" "0000108354" "0000174280" "0000108355" "0000174281" "0000108356" "0000174282" "0000133799" "0000223227" "0000409939" "0000847155" "0000455036" "0000990011"