### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNMA1) # 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}}" "KCNMA1" "potassium large conductance calcium-activated channel, subfamily M, alpha member 1" "10" "q22" "unknown" "NG_012270.1" "UD_132119016303" "" "https://www.LOVD.nl/KCNMA1" "" "1" "6284" "3778" "600150" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/KCNMA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-10-23 16:12:54" "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}}" "00025234" "KCNMA1" "transcript variant 1" "002" "NM_001014797.2" "" "NP_001014797.1" "" "" "" "-177" "11817" "3549" "79397577" "78629359" "00006" "2017-10-23 16:16:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02852" "PNKD3;GEPD" "dyskinesia, nonkinesigenic, paroxysmal, type 3, with/without generalized epilepsy (PNKD-3, generalized epilepsy and paroxysmal dyskinesia(GEPD))" "AD" "609446" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04298" "EIG" "epilepsy, idiopathic, generalized (EIG)" "" "" "" "" "" "00006" "2015-07-15 15:03:52" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06085" "CADEDS" "Cerebellar atrophy, developmental delay, and seizures" "AR" "617643" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06095" "EIG16" "{Epilepsy, idiopathic generalized, susceptibility to, 16}" "AD" "618596" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06100" "LIWAS" "Liang-Wang syndrome" "AD" "618729" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "KCNMA1" "02852" "KCNMA1" "06085" "KCNMA1" "06095" "KCNMA1" "06100" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00132051" "" "" "" "1" "" "02280" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00132052" "" "" "" "1" "" "02280" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00132053" "" "" "" "1" "" "02280" "" "" "F" "" "China" "" "0" "" "" "" "" "00132054" "" "" "" "1" "" "02280" "" "" "F" "" "United States" "" "0" "" "" "" "" "00132055" "" "" "" "1" "" "02280" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00290146" "" "" "" "194" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290147" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304266" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374232" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4102" "00431297" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "204154" "00458244" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00469011" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00132051" "04298" "00132052" "04270" "00132053" "04270" "00132054" "04270" "00132055" "04270" "00290146" "00198" "00290147" "00198" "00304266" "00198" "00374232" "00198" "00431297" "06100" "00458244" "05611" "00469011" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 02852, 04270, 04298, 05611, 06085, 06095, 06100 ## 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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000104250" "04298" "00132051" "02280" "Isolated (sporadic)" "" "Generalized myoclonic seizures (HP:0002123), Absence seizures (HP:0002121)" "" "09y" "" "" "" "" "" "" "" "" "" "0000104251" "04270" "00132052" "02280" "Isolated (sporadic)" "" "Atypical absence seizures (HP:0007270), Generalized myoclonic seizures (HP:0002123)" "01y08m" "" "" "" "" "" "" "" "" "" "" "0000104252" "04270" "00132053" "02280" "Familial, autosomal dominant" "" "" "" "00y08m" "" "" "" "" "" "" "" "" "" "0000104253" "04270" "00132054" "02280" "Unknown" "" "Absence seizures (HP:0002121), Atonic seizures (HP:0010819), Focal myoclonic seizures (HP:0011166), Focal tonic seizures (HP:0011167)" "" "30y" "" "" "" "" "" "" "" "" "" "0000104254" "04270" "00132055" "02280" "Unknown" "" "epileptic encephalopathy (HP:0200134)" "01y02m" "" "" "" "" "" "" "" "" "" "" "0000269442" "00198" "00374232" "00006" "Familial, autosomal recessive" "" "Muscular dystrophies" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000321898" "06100" "00431297" "01164" "Isolated (sporadic)" "02y" "Delayed speech and language development, Gait disturbance, Reduced tendon reflexes, Tremor, Gait ataxia, Abnormality of movement, Abnormality of the face" "" "" "" "" "" "" "" "" "" "" "" "0000346680" "05611" "00458244" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0002487, HP:0001256, HP:0007018, HP:0000750" "" "" "" "" "" "" "" "" "KCNMA1-related disorder" "neurodevelopmental disorder" "" "0000354164" "00198" "00469011" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000132890" "00132051" "1" "02280" "02280" "2017-10-13 12:10:34" "02280" "2017-10-13 14:08:23" "SEQ-NG" "DNA;RNA" "" "" "0000132891" "00132052" "1" "02280" "02280" "2017-10-13 13:34:05" "02280" "2017-10-13 14:09:13" "SEQ-NG" "DNA;RNA" "" "" "0000132892" "00132053" "1" "02280" "02280" "2017-10-13 13:59:44" "02280" "2017-10-13 14:10:07" "SEQ-NG" "DNA;RNA" "" "" "0000132893" "00132054" "1" "02280" "02280" "2017-10-13 14:21:54" "" "" "SEQ-NG" "DNA;RNA" "" "" "0000132894" "00132055" "1" "02280" "02280" "2017-10-13 14:39:07" "" "" "SEQ-NG" "DNA;RNA" "" "" "0000291314" "00290146" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291315" "00290147" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305395" "00304266" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375426" "00374232" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000432709" "00431297" "1" "01164" "01164" "2023-02-07 17:03:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000459865" "00458244" "1" "03544" "03544" "2024-12-09 11:31:25" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000470679" "00469011" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000132890" "KCNMA1" "0000132891" "KCNMA1" "0000132892" "KCNMA1" "0000132893" "KCNMA1" "0000132894" "KCNMA1" "0000375426" "CAPN3" "0000432709" "KCNMA1" ## 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 = 180 "{{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}}" "0000012855" "3" "30" "10" "79173071" "79173071" "subst" "0" "00037" "KCNMA1_000001" "g.79173071C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77413313C>T" "" "likely benign" "" "0000222073" "0" "90" "10" "78651467" "78651467" "subst" "0" "02280" "KCNMA1_000003" "g.78651467T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.76891709T>C" "" "pathogenic" "" "0000222074" "0" "90" "10" "78651467" "78651467" "subst" "0" "02280" "KCNMA1_000003" "g.78651467T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.76891709T>C" "" "pathogenic" "" "0000222075" "11" "30" "10" "78647085" "78647085" "subst" "8.93699E-5" "02280" "KCNMA1_000002" "g.78647085T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.76887327T>C" "" "likely benign" "" "0000222076" "0" "30" "10" "78778819" "78778819" "subst" "1.22269E-5" "02280" "KCNMA1_000004" "g.78778819T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.77019061T>G" "" "likely benign" "" "0000222077" "0" "30" "10" "78839278" "78839278" "subst" "1.21837E-5" "02280" "KCNMA1_000005" "g.78839278C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.77079520C>A" "" "likely benign" "" "0000251476" "0" "10" "10" "78761473" "78761473" "subst" "0" "02326" "KCNMA1_000066" "g.78761473A>G" "" "" "" "KCNMA1(NM_001014797.3):c.2104+10252T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77001715A>G" "" "benign" "" "0000252191" "0" "30" "10" "78644699" "78644699" "subst" "0.000680879" "02326" "KCNMA1_000007" "g.78644699A>T" "" "" "" "KCNMA1(NM_001014797.3):c.3524+2350T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76884941A>T" "" "likely benign" "" "0000252192" "0" "30" "10" "78674611" "78674611" "subst" "0" "02326" "KCNMA1_000013" "g.78674611A>G" "" "" "" "KCNMA1(NM_001014797.3):c.2854+83T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76914853A>G" "" "likely benign" "" "0000252193" "0" "30" "10" "78704731" "78704731" "subst" "0.00771857" "02326" "KCNMA1_000015" "g.78704731A>G" "" "" "" "KCNMA1(NM_001014797.3):c.2548-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76944973A>G" "" "likely benign" "" "0000252194" "0" "30" "10" "78704743" "78704743" "subst" "0" "02326" "KCNMA1_000017" "g.78704743A>G" "" "" "" "KCNMA1(NM_001014797.3):c.2548-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76944985A>G" "" "likely benign" "" "0000254343" "0" "30" "10" "78844463" "78844463" "subst" "0" "01943" "KCNMA1_000037" "g.78844463A>G" "" "" "" "KCNMA1(NM_001014797.2):c.1455T>C (p.D485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77084705A>G" "" "likely benign" "" "0000255270" "0" "30" "10" "78651485" "78651485" "subst" "0.000180241" "01943" "KCNMA1_000009" "g.78651485A>G" "" "" "" "KCNMA1(NM_001014797.2):c.2986-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76891727A>G" "" "likely benign" "" "0000281724" "0" "10" "10" "78651430" "78651430" "subst" "0.00576705" "02325" "KCNMA1_000008" "g.78651430G>A" "" "" "" "KCNMA1(NM_001014797.2):c.3033C>T (p.T1011=), KCNMA1(NM_001014797.3):c.3033C>T (p.T1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76891672G>A" "" "benign" "" "0000281725" "0" "50" "10" "79397312" "79397312" "subst" "0.000237672" "02325" "KCNMA1_000057" "g.79397312T>C" "" "" "" "KCNMA1(NM_001161352.2):c.89A>G (p.(His30Arg)), KCNMA1(NM_002247.4):c.89A>G (p.H30R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77637554T>C" "" "VUS" "" "0000285526" "0" "10" "10" "78868178" "78868180" "del" "0" "02326" "KCNMA1_000041" "g.78868178_78868180del" "" "" "" "KCNMA1(NM_001014797.3):c.1223+71_1223+73delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77108420_77108422del" "" "benign" "" "0000285527" "0" "10" "10" "78850320" "78850320" "subst" "0" "02326" "KCNMA1_000040" "g.78850320C>G" "" "" "" "KCNMA1(NM_001014797.3):c.1224-52G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77090562C>G" "" "benign" "" "0000285528" "0" "30" "10" "78850172" "78850172" "subst" "0.00202403" "02326" "KCNMA1_000038" "g.78850172G>A" "" "" "" "KCNMA1(NM_001014797.3):c.1320C>T (p.I440=), KCNMA1(NM_001322830.1):c.1320C>T (p.I440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77090414G>A" "" "likely benign" "" "0000285530" "0" "30" "10" "78839371" "78839371" "subst" "0" "02326" "KCNMA1_000036" "g.78839371T>C" "" "" "" "KCNMA1(NM_001014797.3):c.1524-63A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77079613T>C" "" "likely benign" "" "0000285531" "0" "30" "10" "78839196" "78839196" "subst" "0" "02326" "KCNMA1_000034" "g.78839196G>A" "" "" "" "KCNMA1(NM_001014797.3):c.1593+43C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77079438G>A" "" "likely benign" "" "0000285532" "0" "30" "10" "78832844" "78832844" "subst" "0.00180185" "02326" "KCNMA1_000032" "g.78832844C>T" "" "" "" "KCNMA1(NM_001014797.3):c.1749+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77073086C>T" "" "likely benign" "" "0000285533" "0" "10" "10" "78785456" "78785456" "subst" "0" "02326" "KCNMA1_000031" "g.78785456C>A" "" "" "" "KCNMA1(NM_001014797.3):c.1929-241G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77025698C>A" "" "benign" "" "0000285534" "0" "30" "10" "78785039" "78785039" "subst" "0" "02326" "KCNMA1_000030" "g.78785039T>C" "" "" "" "KCNMA1(NM_001014797.3):c.1940+165A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77025281T>C" "" "likely benign" "" "0000285535" "0" "10" "10" "78782794" "78782794" "subst" "0" "02326" "KCNMA1_000029" "g.78782794C>T" "" "" "" "KCNMA1(NM_001014797.3):c.1940+2410G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77023036C>T" "" "benign" "" "0000285536" "0" "30" "10" "78779030" "78779030" "subst" "0" "02326" "KCNMA1_000028" "g.78779030T>C" "" "" "" "KCNMA1(NM_001014797.3):c.1941-173A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77019272T>C" "" "likely benign" "" "0000285537" "0" "30" "10" "78778764" "78778764" "subst" "0.0025008" "02326" "KCNMA1_000027" "g.78778764C>T" "" "" "" "KCNMA1(NM_001014797.3):c.2027+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77019006C>T" "" "likely benign" "" "0000285538" "0" "30" "10" "78772373" "78772373" "subst" "0" "02326" "KCNMA1_000026" "g.78772373C>G" "" "" "" "KCNMA1(NM_001014797.3):c.2028-572G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77012615C>G" "" "likely benign" "" "0000285539" "0" "30" "10" "78755461" "78755461" "subst" "0" "02326" "KCNMA1_000023" "g.78755461C>T" "" "" "" "KCNMA1(NM_001014797.3):c.2104+16264G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76995703C>T" "" "likely benign" "" "0000285540" "0" "30" "10" "78768125" "78768125" "subst" "0" "02326" "KCNMA1_000025" "g.78768125G>A" "" "" "" "KCNMA1(NM_001014797.3):c.2104+3600C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77008367G>A" "" "likely benign" "" "0000285541" "0" "10" "10" "78734472" "78734472" "subst" "0" "02326" "KCNMA1_000021" "g.78734472T>C" "" "" "" "KCNMA1(NM_001014797.3):c.2105-4647A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76974714T>C" "" "benign" "" "0000285542" "0" "30" "10" "78737508" "78737508" "subst" "0" "02326" "KCNMA1_000022" "g.78737508C>A" "" "" "" "KCNMA1(NM_001014797.3):c.2105-7683G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76977750C>A" "" "likely benign" "" "0000285543" "0" "30" "10" "78709083" "78709083" "subst" "0.0094888" "02326" "KCNMA1_000020" "g.78709083G>A" "" "" "" "KCNMA1(NM_001014797.3):c.2364C>T (p.V788=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76949325G>A" "" "likely benign" "" "0000285544" "0" "30" "10" "78709062" "78709062" "subst" "0.000512424" "02326" "KCNMA1_000019" "g.78709062G>A" "" "" "" "KCNMA1(NM_001014797.3):c.2385C>T (p.D795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76949304G>A" "" "likely benign" "" "0000285545" "0" "30" "10" "78709044" "78709044" "subst" "0.00618323" "02326" "KCNMA1_000018" "g.78709044G>A" "" "" "" "KCNMA1(NM_001014797.3):c.2403C>T (p.I801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76949286G>A" "" "likely benign" "" "0000285546" "0" "10" "10" "78704737" "78704737" "subst" "0" "02326" "KCNMA1_000016" "g.78704737G>A" "" "" "" "KCNMA1(NM_001014797.3):c.2548-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76944979G>A" "" "benign" "" "0000285547" "0" "30" "10" "78669784" "78669784" "subst" "4.06663E-5" "02326" "KCNMA1_000011" "g.78669784C>T" "" "" "" "KCNMA1(NM_001014797.3):c.2925G>A (p.T975=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76910026C>T" "" "likely benign" "" "0000285548" "0" "10" "10" "78669575" "78669575" "subst" "0" "02326" "KCNMA1_000010" "g.78669575T>C" "" "" "" "KCNMA1(NM_001014797.3):c.2985+149A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76909817T>C" "" "benign" "" "0000285549" "0" "30" "10" "78651430" "78651430" "subst" "0.00576705" "02326" "KCNMA1_000008" "g.78651430G>A" "" "" "" "KCNMA1(NM_001014797.2):c.3033C>T (p.T1011=), KCNMA1(NM_001014797.3):c.3033C>T (p.T1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76891672G>A" "" "likely benign" "" "0000285550" "0" "30" "10" "79396015" "79396015" "subst" "0" "02326" "KCNMA1_000051" "g.79396015T>C" "" "" "" "KCNMA1(NM_001014797.3):c.378+1008A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77636257T>C" "" "likely benign" "" "0000285551" "0" "30" "10" "79396406" "79396406" "del" "0" "02326" "KCNMA1_000055" "g.79396406del" "" "" "" "KCNMA1(NM_001014797.3):c.378+621delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77636648del" "" "likely benign" "" "0000285552" "0" "30" "10" "79396252" "79396252" "subst" "0.00732719" "02326" "KCNMA1_000054" "g.79396252C>G" "" "" "" "KCNMA1(NM_001014797.3):c.378+771G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77636494C>G" "" "likely benign" "" "0000285553" "0" "10" "10" "79396126" "79396126" "subst" "0.00236323" "02326" "KCNMA1_000052" "g.79396126G>C" "" "" "" "KCNMA1(NM_001014797.3):c.378+897C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77636368G>C" "" "benign" "" "0000285554" "0" "30" "10" "79163485" "79163485" "subst" "0" "02326" "KCNMA1_000050" "g.79163485G>A" "" "" "" "KCNMA1(NM_001014797.3):c.540+135C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77403727G>A" "" "likely benign" "" "0000285555" "0" "30" "10" "78944797" "78944797" "del" "0" "02326" "KCNMA1_000049" "g.78944797del" "" "" "" "KCNMA1(NM_001014797.3):c.603-123delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77185039del" "" "likely benign" "" "0000285556" "0" "10" "10" "78944568" "78944568" "subst" "0" "02326" "KCNMA1_000047" "g.78944568T>C" "" "" "" "KCNMA1(NM_001014797.3):c.696+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77184810T>C" "" "benign" "" "0000285557" "0" "10" "10" "78943390" "78943390" "subst" "0" "02326" "KCNMA1_000046" "g.78943390T>C" "" "" "" "KCNMA1(NM_001014797.3):c.697-100A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77183632T>C" "" "benign" "" "0000285558" "0" "10" "10" "78872281" "78872281" "subst" "0" "02326" "KCNMA1_000045" "g.78872281C>T" "" "" "" "KCNMA1(NM_001014797.3):c.885-81G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77112523C>T" "" "benign" "" "0000285559" "0" "10" "10" "78872077" "78872077" "subst" "0.0354127" "02326" "KCNMA1_000043" "g.78872077G>T" "" "" "" "KCNMA1(NM_001014797.3):c.960+48C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77112319G>T" "" "benign" "" "0000290068" "0" "50" "10" "78869996" "78869996" "subst" "0" "01943" "KCNMA1_000042" "g.78869996C>G" "" "" "" "KCNMA1(NM_001014797.2):c.1066G>C (p.G356R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77110238C>G" "" "VUS" "" "0000290069" "0" "30" "10" "78850276" "78850276" "subst" "2.03968E-5" "01943" "KCNMA1_000039" "g.78850276G>A" "" "" "" "KCNMA1(NM_001322830.1):c.1224-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77090518G>A" "" "likely benign" "" "0000290070" "0" "30" "10" "78850172" "78850172" "subst" "0.00202403" "01943" "KCNMA1_000038" "g.78850172G>A" "" "" "" "KCNMA1(NM_001014797.3):c.1320C>T (p.I440=), KCNMA1(NM_001322830.1):c.1320C>T (p.I440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77090414G>A" "" "likely benign" "" "0000290071" "0" "30" "10" "78839269" "78839269" "subst" "4.06108E-5" "01943" "KCNMA1_000035" "g.78839269G>T" "" "" "" "KCNMA1(NM_001014797.2):c.1563C>A (p.I521=), KCNMA1(NM_001014797.3):c.1563C>A (p.I521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77079511G>T" "" "likely benign" "" "0000290072" "0" "30" "10" "78761266" "78761266" "subst" "3.27955E-5" "01943" "KCNMA1_000024" "g.78761266G>A" "" "" "" "KCNMA1(NM_001161352.2):c.2165C>T (p.S722L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77001508G>A" "" "likely benign" "" "0000290073" "0" "50" "10" "78674745" "78674745" "subst" "0.000134053" "01943" "KCNMA1_000014" "g.78674745G>A" "" "" "" "KCNMA1(NM_001014797.2):c.2803C>T (p.R935C), KCNMA1(NM_001322830.1):c.2812C>T (p.R938C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76914987G>A" "" "VUS" "" "0000290074" "0" "30" "10" "78651430" "78651430" "subst" "0.00576705" "01943" "KCNMA1_000008" "g.78651430G>A" "" "" "" "KCNMA1(NM_001014797.2):c.3033C>T (p.T1011=), KCNMA1(NM_001014797.3):c.3033C>T (p.T1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76891672G>A" "" "likely benign" "" "0000290075" "0" "10" "10" "79397367" "79397367" "subst" "0" "01943" "KCNMA1_000059" "g.79397367T>C" "" "" "" "KCNMA1(NM_001322830.1):c.34A>G (p.S12G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77637609T>C" "" "benign" "" "0000290076" "0" "30" "10" "78637657" "78637657" "subst" "0.000252264" "01943" "KCNMA1_000006" "g.78637657G>T" "" "" "" "KCNMA1(NM_001014797.2):c.3525-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76877899G>T" "" "likely benign" "" "0000290077" "0" "30" "10" "79396193" "79396193" "subst" "2.31246E-5" "01943" "KCNMA1_000053" "g.79396193G>A" "" "" "" "KCNMA1(NM_001271522.1):c.459C>T (p.R153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77636435G>A" "" "likely benign" "" "0000290078" "0" "10" "10" "78944590" "78944590" "subst" "0.347289" "01943" "KCNMA1_000048" "g.78944590G>A" "" "" "" "KCNMA1(NM_001014797.2):c.687C>T (p.F229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77184832G>A" "" "benign" "" "0000290079" "0" "30" "10" "78872140" "78872140" "subst" "0.00343295" "01943" "KCNMA1_000044" "g.78872140G>A" "" "" "" "KCNMA1(NM_001014797.2):c.945C>T (p.A315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77112382G>A" "" "likely benign" "" "0000321634" "0" "50" "10" "78832998" "78832998" "subst" "0" "01804" "KCNMA1_000033" "g.78832998T>G" "" "" "" "KCNMA1(NM_001014797.2):c.1606A>C (p.(Asn536His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77073240T>G" "" "VUS" "" "0000321635" "0" "30" "10" "79397361" "79397366" "dup" "0" "01804" "KCNMA1_000058" "g.79397361_79397366dup" "" "" "" "KCNMA1(NM_001161352.1):c.51_56dupCGGCGG (p.(Gly18_Gly19dup)), KCNMA1(NM_002247.4):c.51_56dupCGGCGG (p.G19_G20dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77637603_77637608dup" "" "likely benign" "" "0000339065" "0" "50" "10" "78850254" "78850254" "subst" "0" "02327" "KCNMA1_000064" "g.78850254C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77090496C>T" "" "VUS" "" "0000341329" "0" "90" "10" "78880789" "78880789" "subst" "0" "02327" "KCNMA1_000065" "g.78880789C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77121031C>G" "" "pathogenic" "" "0000341709" "0" "50" "10" "78651335" "78651335" "subst" "0" "02327" "KCNMA1_000061" "g.78651335C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76891577C>T" "" "VUS" "" "0000346557" "0" "50" "10" "78649261" "78649261" "subst" "0" "02327" "KCNMA1_000060" "g.78649261T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76889503T>C" "" "VUS" "" "0000349241" "0" "50" "10" "78651362" "78651362" "subst" "1.62795E-5" "02327" "KCNMA1_000062" "g.78651362G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76891604G>T" "" "VUS" "" "0000541007" "0" "30" "10" "78651358" "78651358" "subst" "0.000480491" "01943" "KCNMA1_000067" "g.78651358C>T" "" "" "" "KCNMA1(NM_001322830.1):c.3195G>A (p.P1065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76891600C>T" "" "likely benign" "" "0000541008" "0" "30" "10" "78651385" "78651385" "subst" "0.00342984" "01943" "KCNMA1_000068" "g.78651385G>A" "" "" "" "KCNMA1(NM_001014797.3):c.3078C>T (p.N1026=), KCNMA1(NM_001322830.1):c.3168C>T (p.N1056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76891627G>A" "" "likely benign" "" "0000541009" "0" "30" "10" "78651385" "78651385" "subst" "0.00342984" "02326" "KCNMA1_000068" "g.78651385G>A" "" "" "" "KCNMA1(NM_001014797.3):c.3078C>T (p.N1026=), KCNMA1(NM_001322830.1):c.3168C>T (p.N1056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76891627G>A" "" "likely benign" "" "0000541010" "0" "90" "10" "78651467" "78651467" "subst" "0" "02327" "KCNMA1_000003" "g.78651467T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76891709T>C" "" "pathogenic" "" "0000541011" "0" "30" "10" "78669709" "78669709" "subst" "0.000118604" "02326" "KCNMA1_000069" "g.78669709A>G" "" "" "" "KCNMA1(NM_001014797.3):c.2985+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76909951A>G" "" "likely benign" "" "0000541012" "0" "30" "10" "78669727" "78669727" "subst" "0.00013851" "02326" "KCNMA1_000070" "g.78669727G>A" "" "" "" "KCNMA1(NM_001014797.3):c.2982C>T (p.S994=), KCNMA1(NM_001322830.1):c.3072C>T (p.S1024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76909969G>A" "" "likely benign" "" "0000541013" "0" "30" "10" "78704688" "78704688" "subst" "0" "01943" "KCNMA1_000071" "g.78704688G>A" "" "" "" "KCNMA1(NM_001322830.1):c.2592C>T (p.V864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76944930G>A" "" "likely benign" "" "0000541014" "0" "50" "10" "78709082" "78709082" "subst" "0" "02327" "KCNMA1_000072" "g.78709082C>T" "" "" "" "KCNMA1(NM_002247.4):c.2353G>A (p.V785M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76949324C>T" "" "VUS" "" "0000541015" "0" "10" "10" "78709165" "78709165" "subst" "0.0115283" "02326" "KCNMA1_000073" "g.78709165G>A" "" "" "" "KCNMA1(NM_001014797.3):c.2323-41C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76949407G>A" "" "benign" "" "0000541017" "0" "90" "10" "78729794" "78729794" "del" "0" "02326" "KCNMA1_000074" "g.78729794del" "" "" "" "KCNMA1(NM_001014797.3):c.2144delA (p.K715Sfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76970036del" "" "pathogenic" "" "0000541018" "0" "30" "10" "78737521" "78737521" "subst" "0" "02326" "KCNMA1_000075" "g.78737521A>G" "" "" "" "KCNMA1(NM_001014797.3):c.2105-7696T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76977763A>G" "" "likely benign" "" "0000541019" "0" "30" "10" "78755476" "78755476" "subst" "0" "02326" "KCNMA1_000076" "g.78755476A>G" "" "" "" "KCNMA1(NM_001014797.3):c.2104+16249T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76995718A>G" "" "likely benign" "" "0000541020" "0" "50" "10" "78761284" "78761284" "subst" "3.28153E-5" "02327" "KCNMA1_000077" "g.78761284C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77001526C>T" "" "VUS" "" "0000541021" "0" "30" "10" "78761302" "78761302" "subst" "0" "01804" "KCNMA1_000078" "g.78761302C>T" "" "" "" "KCNMA1(NM_001161352.1):c.2129G>A (p.(Cys710Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77001544C>T" "" "likely benign" "" "0000541022" "0" "30" "10" "78767972" "78767972" "subst" "0" "02326" "KCNMA1_000079" "g.78767972T>C" "" "" "" "KCNMA1(NM_001014797.3):c.2104+3753A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77008214T>C" "" "likely benign" "" "0000541023" "0" "30" "10" "78772500" "78772500" "subst" "0" "02326" "KCNMA1_000080" "g.78772500A>T" "" "" "" "KCNMA1(NM_001014797.3):c.2028-699T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77012742A>T" "" "likely benign" "" "0000541024" "0" "10" "10" "78785377" "78785377" "subst" "0" "02326" "KCNMA1_000081" "g.78785377A>G" "" "" "" "KCNMA1(NM_001014797.3):c.1929-162T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77025619A>G" "" "benign" "" "0000541025" "0" "30" "10" "78799303" "78799303" "subst" "2.84856E-5" "01943" "KCNMA1_000082" "g.78799303G>A" "" "" "" "KCNMA1(NM_001322830.1):c.1842C>T (p.S614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77039545G>A" "" "likely benign" "" "0000541026" "0" "30" "10" "78832849" "78832849" "subst" "8.53756E-5" "02326" "KCNMA1_000083" "g.78832849C>T" "" "" "" "KCNMA1(NM_001014797.3):c.1749+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77073091C>T" "" "likely benign" "" "0000541027" "0" "30" "10" "78850204" "78850204" "subst" "0" "02327" "KCNMA1_000084" "g.78850204G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77090446G>T" "" "likely benign" "" "0000541028" "0" "30" "10" "78850253" "78850253" "subst" "3.25555E-5" "02326" "KCNMA1_000085" "g.78850253G>A" "" "" "" "KCNMA1(NM_001014797.3):c.1239C>T (p.C413=), KCNMA1(NM_001322830.1):c.1239C>T (p.C413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77090495G>A" "" "likely benign" "" "0000541029" "0" "10" "10" "78880562" "78880562" "subst" "0" "02326" "KCNMA1_000086" "g.78880562G>A" "" "" "" "KCNMA1(NM_001014797.3):c.884+169C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77120804G>A" "" "benign" "" "0000541030" "0" "30" "10" "78944763" "78944763" "subst" "0" "02326" "KCNMA1_000087" "g.78944763G>A" "" "" "" "KCNMA1(NM_001014797.3):c.603-89C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77185005G>A" "" "likely benign" "" "0000541031" "0" "30" "10" "79396156" "79396156" "subst" "1.54157E-5" "01804" "KCNMA1_000088" "g.79396156G>A" "" "" "" "KCNMA1(NM_001271520.1):c.*345C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77636398G>A" "" "likely benign" "" "0000541032" "0" "50" "10" "79396757" "79396757" "subst" "0" "01943" "KCNMA1_000089" "g.79396757C>T" "" "" "" "KCNMA1(NM_001271520.1):c.386G>A (p.W129*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77636999C>T" "" "VUS" "" "0000541033" "0" "30" "10" "79397036" "79397036" "subst" "2.09298E-5" "01943" "KCNMA1_000090" "g.79397036C>G" "" "" "" "KCNMA1(NM_001322830.1):c.365G>C (p.G122A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77637278C>G" "" "likely benign" "" "0000541034" "0" "50" "10" "79397214" "79397214" "subst" "0" "02325" "KCNMA1_000091" "g.79397214C>A" "" "" "" "KCNMA1(NM_001322830.2):c.187G>T (p.E63*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77637456C>A" "" "VUS" "" "0000541035" "0" "10" "10" "79397284" "79397286" "dup" "0" "02326" "KCNMA1_000092" "g.79397284_79397286dup" "" "" "" "KCNMA1(NM_001014797.3):c.135_137dupCTC (p.S60dup), KCNMA1(NM_001322830.2):c.135_137dupCTC (p.S60dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77637526_77637528dup" "" "benign" "" "0000541036" "0" "30" "10" "79397311" "79397311" "subst" "0.000582807" "02326" "KCNMA1_000093" "g.79397311G>A" "" "" "" "KCNMA1(NM_001014797.3):c.90C>T (p.H30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77637553G>A" "" "likely benign" "" "0000541038" "0" "50" "10" "79397359" "79397388" "del" "0" "02325" "KCNMA1_000095" "g.79397359_79397388del" "" "" "" "KCNMA1(NM_002247.4):c.27_56delCGGCAGCAGCGGCGGCGGCGGCGGCGGCGG (p.G13_S22del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77637601_77637630del" "" "VUS" "" "0000541039" "0" "50" "10" "79397387" "79397388" "ins" "0" "01943" "KCNMA1_000096" "g.79397387_79397388insTGC" "" "" "" "KCNMA1(NM_001161352.1):c.15_16insAGC (p.(Gly5_Gly6insSer)), KCNMA1(NM_001322830.1):c.15_16insAGC (p.G5_G6insS)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77637629_77637630insTGC" "" "VUS" "" "0000612680" "0" "30" "10" "78787592" "78787592" "subst" "1.22181E-5" "01943" "KCNMA1_000097" "g.78787592G>A" "" "" "" "KCNMA1(NM_001322830.1):c.1917C>T (p.N639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77027834G>A" "" "likely benign" "" "0000612681" "0" "50" "10" "79163646" "79163646" "subst" "0" "02327" "KCNMA1_000098" "g.79163646C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77403888C>T" "" "VUS" "" "0000612682" "0" "30" "10" "79396172" "79396172" "subst" "3.85362E-5" "01943" "KCNMA1_000099" "g.79396172G>A" "" "" "" "KCNMA1(NM_001322839.1):c.647C>T (p.S216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77636414G>A" "" "likely benign" "" "0000612683" "0" "30" "10" "79397370" "79397370" "subst" "0" "01943" "KCNMA1_000101" "g.79397370T>C" "" "" "" "KCNMA1(NM_001322830.1):c.31A>G (p.S11G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77637612T>C" "" "likely benign" "" "0000622433" "0" "10" "10" "79397284" "79397286" "dup" "0" "02325" "KCNMA1_000092" "g.79397284_79397286dup" "" "" "" "KCNMA1(NM_001014797.3):c.135_137dupCTC (p.S60dup), KCNMA1(NM_001322830.2):c.135_137dupCTC (p.S60dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77637526_77637528dup" "" "benign" "" "0000648003" "1" "30" "10" "78646536" "78646536" "subst" "0" "03575" "KCNMA1_000102" "g.78646536G>T" "194/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "194 heterozygous; {DB:CLININrs2116830}" "Germline" "" "rs2116830" "0" "" "" "g.76886778G>T" "" "likely benign" "" "0000648004" "1" "50" "10" "78709083" "78709083" "subst" "0.0094888" "03575" "KCNMA1_000020" "g.78709083G>A" "33/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 33 heterozygous, no homozygous; {DB:CLININrs41274568}" "Germline" "" "rs41274568" "0" "" "" "g.76949325G>A" "" "VUS" "" "0000656567" "0" "30" "10" "78674773" "78674773" "subst" "0.00020315" "01943" "KCNMA1_000103" "g.78674773T>C" "" "" "" "KCNMA1(NM_001322830.1):c.2784A>G (p.P928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76915015T>C" "" "likely benign" "" "0000656568" "0" "30" "10" "78839269" "78839269" "subst" "4.06108E-5" "02326" "KCNMA1_000035" "g.78839269G>T" "" "" "" "KCNMA1(NM_001014797.2):c.1563C>A (p.I521=), KCNMA1(NM_001014797.3):c.1563C>A (p.I521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77079511G>T" "" "likely benign" "" "0000669083" "3" "30" "10" "78646536" "78646536" "subst" "0" "03575" "KCNMA1_000102" "g.78646536G>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs2116830}" "Germline" "" "rs2116830" "0" "" "" "g.76886778G>T" "" "likely benign" "" "0000678918" "0" "50" "10" "78647100" "78647100" "subst" "4.06237E-5" "01943" "KCNMA1_000104" "g.78647100G>A" "" "" "" "KCNMA1(NM_001322830.1):c.3563C>T (p.T1188I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678919" "0" "30" "10" "78709061" "78709061" "subst" "0.000581547" "02326" "KCNMA1_000105" "g.78709061C>T" "" "" "" "KCNMA1(NM_001014797.3):c.2386G>A (p.V796I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678920" "0" "50" "10" "78729761" "78729761" "subst" "0" "01943" "KCNMA1_000106" "g.78729761G>C" "" "" "" "KCNMA1(NM_001322830.1):c.2178C>G (p.N726K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678921" "0" "30" "10" "78785190" "78785190" "subst" "4.70061E-5" "02326" "KCNMA1_000107" "g.78785190C>T" "" "" "" "KCNMA1(NM_001014797.3):c.1940+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678922" "0" "30" "10" "79397284" "79397286" "del" "0" "02330" "KCNMA1_000108" "g.79397284_79397286del" "" "" "" "KCNMA1(NM_001322830.2):c.135_137delCTC (p.S60del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690788" "0" "30" "10" "78669727" "78669727" "subst" "0.00013851" "01943" "KCNMA1_000070" "g.78669727G>A" "" "" "" "KCNMA1(NM_001014797.3):c.2982C>T (p.S994=), KCNMA1(NM_001322830.1):c.3072C>T (p.S1024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690789" "0" "30" "10" "78704595" "78704595" "subst" "0.000170586" "02326" "KCNMA1_000109" "g.78704595C>T" "" "" "" "KCNMA1(NM_001322830.2):c.2685G>A (p.A895=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690790" "0" "30" "10" "78850253" "78850253" "subst" "3.25555E-5" "01943" "KCNMA1_000085" "g.78850253G>A" "" "" "" "KCNMA1(NM_001014797.3):c.1239C>T (p.C413=), KCNMA1(NM_001322830.1):c.1239C>T (p.C413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690791" "0" "30" "10" "78943225" "78943225" "subst" "2.03522E-5" "01943" "KCNMA1_000110" "g.78943225C>T" "" "" "" "KCNMA1(NM_001322830.1):c.762G>A (p.T254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690792" "0" "30" "10" "78944626" "78944626" "subst" "2.44071E-5" "01943" "KCNMA1_000111" "g.78944626G>A" "" "" "" "KCNMA1(NM_001322830.1):c.651C>T (p.I217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690793" "0" "30" "10" "79163747" "79163747" "subst" "0.000406157" "01943" "KCNMA1_000112" "g.79163747G>A" "" "" "" "KCNMA1(NM_001322830.1):c.413C>T (p.A138V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690794" "0" "50" "10" "79397361" "79397366" "dup" "0" "02325" "KCNMA1_000058" "g.79397361_79397366dup" "" "" "" "KCNMA1(NM_001161352.1):c.51_56dupCGGCGG (p.(Gly18_Gly19dup)), KCNMA1(NM_002247.4):c.51_56dupCGGCGG (p.G19_G20dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722940" "0" "50" "10" "78651429" "78651429" "subst" "0" "02327" "KCNMA1_000113" "g.78651429C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722941" "0" "30" "10" "78729752" "78729752" "subst" "8.12203E-6" "02326" "KCNMA1_000114" "g.78729752G>A" "" "" "" "KCNMA1(NM_001322830.1):c.2187C>T (p.N729=), KCNMA1(NM_001322830.2):c.2187C>T (p.N729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722942" "0" "30" "10" "79163746" "79163746" "subst" "8.12282E-5" "02326" "KCNMA1_000115" "g.79163746C>T" "" "" "" "KCNMA1(NM_001322830.2):c.414G>A (p.A138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722943" "0" "50" "10" "79397364" "79397366" "dup" "0" "02329" "KCNMA1_000100" "g.79397364_79397366dup" "" "" "" "KCNMA1(NM_001161352.1):c.54_56dupCGG (p.(Gly19dup)), KCNMA1(NM_001322830.2):c.54_56dupCGG (p.G20dup), KCNMA1(NM_002247.4):c.54_56dupCGG (p.G20dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787452" "0" "50" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "0" "" "c.2108C>T (Pro703Leu)" "" "Germline" "" "rs771363378" "0" "" "" "" "" "VUS" "" "0000804567" "0" "50" "10" "78647137" "78647137" "subst" "8.13074E-6" "02329" "KCNMA1_000116" "g.78647137T>C" "" "" "" "KCNMA1(NM_001322830.2):c.3526A>G (p.S1176G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804568" "0" "50" "10" "78709082" "78709082" "subst" "0" "02325" "KCNMA1_000072" "g.78709082C>T" "" "" "" "KCNMA1(NM_002247.4):c.2353G>A (p.V785M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804569" "0" "50" "10" "78771727" "78771727" "subst" "8.14213E-6" "01943" "KCNMA1_000117" "g.78771727C>T" "" "" "" "KCNMA1(NM_001322830.1):c.2102G>A (p.R701Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804570" "0" "50" "10" "79396700" "79396700" "subst" "0" "01943" "KCNMA1_000118" "g.79396700C>T" "" "" "" "KCNMA1(NM_001271520.1):c.443G>A (p.G148E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804571" "0" "50" "10" "79397330" "79397330" "subst" "0" "01943" "KCNMA1_000119" "g.79397330C>T" "" "" "" "KCNMA1(NM_001322830.1):c.71G>A (p.R24K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804572" "0" "30" "10" "79397364" "79397366" "dup" "0" "02325" "KCNMA1_000100" "g.79397364_79397366dup" "" "" "" "KCNMA1(NM_001161352.1):c.54_56dupCGG (p.(Gly19dup)), KCNMA1(NM_001322830.2):c.54_56dupCGG (p.G20dup), KCNMA1(NM_002247.4):c.54_56dupCGG (p.G20dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852597" "0" "50" "10" "78771773" "78771773" "subst" "0" "02327" "KCNMA1_000121" "g.78771773C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861996" "0" "30" "10" "78729752" "78729752" "subst" "8.12203E-6" "01943" "KCNMA1_000114" "g.78729752G>A" "" "" "" "KCNMA1(NM_001322830.1):c.2187C>T (p.N729=), KCNMA1(NM_001322830.2):c.2187C>T (p.N729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861997" "0" "50" "10" "78761249" "78761249" "subst" "6.56754E-6" "01943" "KCNMA1_000120" "g.78761249C>T" "" "" "" "KCNMA1(NM_001161352.2):c.2182G>A (p.V728M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889258" "0" "50" "10" "78704693" "78704693" "subst" "0" "02325" "KCNMA1_000122" "g.78704693C>A" "" "" "" "KCNMA1(NM_002247.4):c.2566G>T (p.A856S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889259" "0" "50" "10" "79163700" "79163700" "subst" "2.0312E-5" "02325" "KCNMA1_000123" "g.79163700C>A" "" "" "" "KCNMA1(NM_002247.4):c.460G>T (p.A154S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918282" "0" "70" "10" "78869935" "78869935" "subst" "0" "01164" "KCNMA1_000124" "g.78869935C>A" "" "" "" "" "ACMG PS2_MOD, PP3_MOD, PM2_SUP, PP1; confirmed de novo in trio-exome" "De novo" "-" "" "0" "" "" "g.77110177C>A" "" "likely pathogenic (dominant)" "ACMG" "0000929702" "0" "90" "10" "78799379" "78799379" "subst" "0" "02325" "KCNMA1_000126" "g.78799379C>T" "" "" "" "KCNMA1(NM_002247.4):c.1766G>A (p.W589*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929703" "0" "70" "10" "78868314" "78868314" "subst" "0" "02327" "KCNMA1_000127" "g.78868314T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949450" "0" "50" "10" "78839278" "78839278" "subst" "1.21837E-5" "02325" "KCNMA1_000005" "g.78839278C>A" "" "" "" "KCNMA1(NM_002247.4):c.1554G>T (p.K518N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965859" "0" "70" "10" "78651336" "78651336" "subst" "0" "02327" "KCNMA1_000128" "g.78651336G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000965861" "0" "50" "10" "78669726" "78669726" "subst" "0" "02325" "KCNMA1_000129" "g.78669726C>T" "" "" "" "KCNMA1(NM_002247.4):c.2971G>A (p.A991T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965863" "0" "30" "10" "78704750" "78704750" "dup" "0" "02326" "KCNMA1_000130" "g.78704750dup" "" "" "" "KCNMA1(NM_001322830.2):c.2557-19dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965865" "0" "30" "10" "79397284" "79397286" "del" "0" "02329" "KCNMA1_000108" "g.79397284_79397286del" "" "" "" "KCNMA1(NM_001322830.2):c.135_137delCTC (p.S60del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979160" "0" "50" "10" "78709043" "78709043" "subst" "8.12942E-6" "01804" "KCNMA1_000131" "g.78709043C>T" "" "" "" "KCNMA1(NM_001161352.2):c.2566G>A (p.(Gly856Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979161" "0" "50" "10" "78761273" "78761273" "subst" "0" "01804" "KCNMA1_000132" "g.78761273C>T" "" "" "" "KCNMA1(NM_001161352.2):c.2158G>A (p.(Asp720Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979162" "0" "30" "10" "78785210" "78785210" "subst" "4.71124E-5" "01804" "KCNMA1_000133" "g.78785210C>T" "" "" "" "KCNMA1(NM_001014797.3):c.1934G>A (p.(Arg645Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979163" "0" "30" "10" "78977322" "78977322" "subst" "0" "01804" "KCNMA1_000134" "g.78977322G>A" "" "" "" "KCNMA1(NM_001322838.2):c.-14-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979164" "0" "30" "10" "79390731" "79390731" "subst" "0" "01804" "KCNMA1_000135" "g.79390731G>A" "" "" "" "KCNMA1(NM_001161352.2):c.378+6292C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979165" "0" "50" "10" "79396767" "79396767" "subst" "0" "01804" "KCNMA1_000136" "g.79396767A>G" "" "" "" "KCNMA1(NM_001271520.2):c.379-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998521" "0" "50" "10" "78674754" "78674754" "subst" "8.1246E-6" "01804" "KCNMA1_000137" "g.78674754C>T" "" "" "" "KCNMA1(NM_001161352.1):c.2956G>A (p.(Gly986Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998522" "0" "50" "10" "78713555" "78713555" "subst" "0" "01804" "KCNMA1_000138" "g.78713555T>C" "" "" "" "KCNMA1(NM_001161352.1):c.2484+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998523" "0" "30" "10" "78761252" "78761252" "subst" "2.62612E-5" "01804" "KCNMA1_000139" "g.78761252G>A" "" "" "" "KCNMA1(NM_001161352.1):c.2179C>T (p.(Arg727Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998524" "0" "30" "10" "78761275" "78761275" "subst" "3.93737E-5" "01804" "KCNMA1_000140" "g.78761275C>T" "" "" "" "KCNMA1(NM_001161352.1):c.2156G>A (p.(Arg719His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998525" "0" "30" "10" "78832972" "78832972" "subst" "8.12328E-6" "01804" "KCNMA1_000141" "g.78832972T>G" "" "" "" "KCNMA1(NM_001161352.1):c.1632A>C (p.(Glu544Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998526" "0" "50" "10" "78846328" "78846328" "subst" "0" "01804" "KCNMA1_000142" "g.78846328T>A" "" "" "" "KCNMA1(NM_001161352.1):c.1358A>T (p.(Glu453Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998527" "0" "30" "10" "79396266" "79396266" "subst" "0" "01804" "KCNMA1_000143" "g.79396266T>C" "" "" "" "KCNMA1(NM_001271522.1):c.386A>G (p.(Ter129Trpext*?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998528" "0" "50" "10" "79397225" "79397225" "subst" "0" "01804" "KCNMA1_000144" "g.79397225G>A" "" "" "" "KCNMA1(NM_001161352.1):c.176C>T (p.(Ser59Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998529" "0" "30" "10" "79397364" "79397366" "dup" "0" "01804" "KCNMA1_000100" "g.79397364_79397366dup" "" "" "" "KCNMA1(NM_001161352.1):c.54_56dupCGG (p.(Gly19dup)), KCNMA1(NM_001322830.2):c.54_56dupCGG (p.G20dup), KCNMA1(NM_002247.4):c.54_56dupCGG (p.G20dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998530" "0" "50" "10" "79397373" "79397374" "ins" "0" "02325" "KCNMA1_000145" "g.79397373_79397374insTCC" "" "" "" "KCNMA1(NM_002247.4):c.29_30insAGG (p.G10dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998531" "0" "30" "10" "79397387" "79397388" "ins" "0" "01804" "KCNMA1_000096" "g.79397387_79397388insTGC" "" "" "" "KCNMA1(NM_001161352.1):c.15_16insAGC (p.(Gly5_Gly6insSer)), KCNMA1(NM_001322830.1):c.15_16insAGC (p.G5_G6insS)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014658" "0" "50" "10" "78637589" "78637589" "subst" "0.00111361" "02325" "KCNMA1_000146" "g.78637589G>T" "" "" "" "KCNMA1(NM_001322830.2):c.*38C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014659" "0" "50" "10" "79397257" "79397265" "del" "0" "02325" "KCNMA1_000147" "g.79397257_79397265del" "" "" "" "KCNMA1(NM_002247.4):c.141_149delCTCTTCTTC (p.S58_S60del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001018798" "0" "70" "10" "78669819" "78669819" "subst" "0" "03544" "KCNMA1_000148" "g.78669819C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.76910061C>T" "{CV:3895535}" "likely pathogenic" "ACMG" "0001025769" "0" "50" "10" "78709079" "78709079" "subst" "0" "02329" "KCNMA1_000149" "g.78709079C>A" "" "" "" "KCNMA1(NM_001161352.2):c.2530G>T (p.V844F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025770" "0" "50" "10" "79397284" "79397286" "del" "0" "02325" "KCNMA1_000108" "g.79397284_79397286del" "" "" "" "KCNMA1(NM_002247.4):c.135_137delCTC (p.S60del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038018" "0" "50" "10" "78704627" "78704627" "subst" "8.12255E-6" "01804" "KCNMA1_000150" "g.78704627T>C" "" "" "" "KCNMA1(NM_001161352.2):c.2806A>G (p.(Thr936Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038019" "0" "30" "10" "78838813" "78838813" "subst" "0" "01804" "KCNMA1_000151" "g.78838813G>A" "" "" "" "KCNMA1(NM_001161352.2):c.1593+426C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038020" "0" "30" "10" "79396155" "79396155" "subst" "0" "01804" "KCNMA1_000152" "g.79396155C>T" "" "" "" "KCNMA1(NM_001322839.2):c.664G>A (p.(Val222Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046248" "0" "30" "10" "79396651" "79396651" "subst" "0" "02325" "KCNMA1_000153" "g.79396651C>G" "" "" "" "KCNMA1(NM_002247.4):c.378+372G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053603" "0" "50" "10" "78647127" "78647127" "subst" "0" "01804" "KCNMA1_000154" "g.78647127C>T" "" "" "" "KCNMA1(NM_001161352.2):c.3608G>A (p.(Ser1203Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053604" "0" "50" "10" "78669753" "78669753" "subst" "3.25452E-5" "01804" "KCNMA1_000155" "g.78669753C>T" "" "" "" "KCNMA1(NM_001161352.2):c.3118G>A (p.(Val1040Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053605" "0" "50" "10" "78761308" "78761308" "subst" "0.000368121" "01804" "KCNMA1_000156" "g.78761308C>T" "" "" "" "KCNMA1(NM_001161352.2):c.2123G>A (p.(Arg708Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053606" "0" "50" "10" "79396304" "79396304" "subst" "1.53903E-5" "01804" "KCNMA1_000157" "g.79396304T>C" "" "" "" "KCNMA1(NM_001322839.2):c.515A>G (p.(Lys172Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053607" "0" "50" "10" "79397312" "79397312" "subst" "0.000237672" "01804" "KCNMA1_000057" "g.79397312T>C" "" "" "" "KCNMA1(NM_001161352.2):c.89A>G (p.(His30Arg)), KCNMA1(NM_002247.4):c.89A>G (p.H30R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058801" "0" "90" "10" "78832998" "78832998" "subst" "0" "00006" "KCNMA1_000033" "g.78832998T>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.77073240T>G" "" "pathogenic" "" "0001065275" "0" "50" "10" "78734251" "78734251" "subst" "0" "02325" "KCNMA1_000158" "g.78734251C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065276" "0" "50" "10" "78844472" "78844472" "subst" "0" "02325" "KCNMA1_000159" "g.78844472C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065277" "0" "50" "10" "78880803" "78880803" "subst" "0" "02325" "KCNMA1_000160" "g.78880803A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065278" "0" "50" "10" "79397342" "79397342" "subst" "0" "01804" "KCNMA1_000161" "g.79397342C>T" "" "" "" "KCNMA1(NM_001161352.2):c.59G>A (p.(Gly20Asp))" "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 KCNMA1 ## Count = 180 "{{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}}" "0000012855" "00025234" "30" "379" "-9290" "379" "-9290" "c.379-9290G>A" "r.(?)" "p.(=)" "1i" "0000222073" "00025234" "90" "2996" "0" "2996" "0" "c.2996A>G" "r.(?)" "p.(Asn999Ser)" "26" "0000222074" "00025234" "90" "2996" "0" "2996" "0" "c.2996A>G" "r.(?)" "p.(Asn999Ser)" "25" "0000222075" "00025234" "30" "3488" "0" "3488" "0" "c.3488A>G" "r.(?)" "p.(Asn1163Ser)" "28" "0000222076" "00025234" "30" "1979" "0" "1979" "0" "c.1979A>C" "r.(?)" "p.(Glu660Ala)" "18" "0000222077" "00025234" "30" "1554" "0" "1554" "0" "c.1554G>T" "r.(?)" "p.(Lys518Asn)" "13" "0000251476" "00025234" "10" "2104" "10252" "2104" "10252" "c.2104+10252T>C" "r.(=)" "p.(=)" "" "0000252191" "00025234" "30" "3524" "2350" "3524" "2350" "c.3524+2350T>A" "r.(=)" "p.(=)" "" "0000252192" "00025234" "30" "2854" "83" "2854" "83" "c.2854+83T>C" "r.(=)" "p.(=)" "" "0000252193" "00025234" "30" "2548" "-8" "2548" "-8" "c.2548-8T>C" "r.(=)" "p.(=)" "" "0000252194" "00025234" "30" "2548" "-20" "2548" "-20" "c.2548-20T>C" "r.(=)" "p.(=)" "" "0000254343" "00025234" "30" "1455" "0" "1455" "0" "c.1455T>C" "r.(?)" "p.(Asp485=)" "" "0000255270" "00025234" "30" "2986" "-8" "2986" "-8" "c.2986-8T>C" "r.(=)" "p.(=)" "" "0000281724" "00025234" "10" "3033" "0" "3033" "0" "c.3033C>T" "r.(?)" "p.(Thr1011=)" "" "0000281725" "00025234" "50" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(His30Arg)" "" "0000285526" "00025234" "10" "1223" "71" "1223" "73" "c.1223+71_1223+73del" "r.(=)" "p.(=)" "" "0000285527" "00025234" "10" "1224" "-52" "1224" "-52" "c.1224-52G>C" "r.(=)" "p.(=)" "" "0000285528" "00025234" "30" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(Ile440=)" "" "0000285530" "00025234" "30" "1524" "-63" "1524" "-63" "c.1524-63A>G" "r.(=)" "p.(=)" "" "0000285531" "00025234" "30" "1593" "43" "1593" "43" "c.1593+43C>T" "r.(=)" "p.(=)" "" "0000285532" "00025234" "30" "1749" "11" "1749" "11" "c.1749+11G>A" "r.(=)" "p.(=)" "" "0000285533" "00025234" "10" "1929" "-241" "1929" "-241" "c.1929-241G>T" "r.(=)" "p.(=)" "" "0000285534" "00025234" "30" "1940" "165" "1940" "165" "c.1940+165A>G" "r.(=)" "p.(=)" "" "0000285535" "00025234" "10" "1940" "2410" "1940" "2410" "c.1940+2410G>A" "r.(=)" "p.(=)" "" "0000285536" "00025234" "30" "1941" "-173" "1941" "-173" "c.1941-173A>G" "r.(=)" "p.(=)" "" "0000285537" "00025234" "30" "2027" "7" "2027" "7" "c.2027+7G>A" "r.(=)" "p.(=)" "" "0000285538" "00025234" "30" "2028" "-572" "2028" "-572" "c.2028-572G>C" "r.(=)" "p.(=)" "" "0000285539" "00025234" "30" "2104" "16264" "2104" "16264" "c.2104+16264G>A" "r.(=)" "p.(=)" "" "0000285540" "00025234" "30" "2104" "3600" "2104" "3600" "c.2104+3600C>T" "r.(=)" "p.(=)" "" "0000285541" "00025234" "10" "2105" "-4647" "2105" "-4647" "c.2105-4647A>G" "r.(=)" "p.(=)" "" "0000285542" "00025234" "30" "2105" "-7683" "2105" "-7683" "c.2105-7683G>T" "r.(=)" "p.(=)" "" "0000285543" "00025234" "30" "2364" "0" "2364" "0" "c.2364C>T" "r.(?)" "p.(Val788=)" "" "0000285544" "00025234" "30" "2385" "0" "2385" "0" "c.2385C>T" "r.(?)" "p.(Asp795=)" "" "0000285545" "00025234" "30" "2403" "0" "2403" "0" "c.2403C>T" "r.(?)" "p.(Ile801=)" "" "0000285546" "00025234" "10" "2548" "-14" "2548" "-14" "c.2548-14C>T" "r.(=)" "p.(=)" "" "0000285547" "00025234" "30" "2925" "0" "2925" "0" "c.2925G>A" "r.(?)" "p.(Thr975=)" "" "0000285548" "00025234" "10" "2985" "149" "2985" "149" "c.2985+149A>G" "r.(=)" "p.(=)" "" "0000285549" "00025234" "30" "3033" "0" "3033" "0" "c.3033C>T" "r.(?)" "p.(Thr1011=)" "" "0000285550" "00025234" "30" "378" "1008" "378" "1008" "c.378+1008A>G" "r.(=)" "p.(=)" "" "0000285551" "00025234" "30" "378" "621" "378" "621" "c.378+621del" "r.(=)" "p.(=)" "" "0000285552" "00025234" "30" "378" "771" "378" "771" "c.378+771G>C" "r.(=)" "p.(=)" "" "0000285553" "00025234" "10" "378" "897" "378" "897" "c.378+897C>G" "r.(=)" "p.(=)" "" "0000285554" "00025234" "30" "540" "135" "540" "135" "c.540+135C>T" "r.(=)" "p.(=)" "" "0000285555" "00025234" "30" "603" "-123" "603" "-123" "c.603-123del" "r.(=)" "p.(=)" "" "0000285556" "00025234" "10" "696" "13" "696" "13" "c.696+13A>G" "r.(=)" "p.(=)" "" "0000285557" "00025234" "10" "697" "-100" "697" "-100" "c.697-100A>G" "r.(=)" "p.(=)" "" "0000285558" "00025234" "10" "885" "-81" "885" "-81" "c.885-81G>A" "r.(=)" "p.(=)" "" "0000285559" "00025234" "10" "960" "48" "960" "48" "c.960+48C>A" "r.(=)" "p.(=)" "" "0000290068" "00025234" "50" "1066" "0" "1066" "0" "c.1066G>C" "r.(?)" "p.(Gly356Arg)" "" "0000290069" "00025234" "30" "1224" "-8" "1224" "-8" "c.1224-8C>T" "r.(=)" "p.(=)" "" "0000290070" "00025234" "30" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(Ile440=)" "" "0000290071" "00025234" "30" "1563" "0" "1563" "0" "c.1563C>A" "r.(?)" "p.(Ile521=)" "" "0000290072" "00025234" "30" "2104" "10459" "2104" "10459" "c.2104+10459C>T" "r.(=)" "p.(=)" "" "0000290073" "00025234" "50" "2803" "0" "2803" "0" "c.2803C>T" "r.(?)" "p.(Arg935Cys)" "" "0000290074" "00025234" "30" "3033" "0" "3033" "0" "c.3033C>T" "r.(?)" "p.(Thr1011=)" "" "0000290075" "00025234" "10" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Ser12Gly)" "" "0000290076" "00025234" "30" "3525" "-6" "3525" "-6" "c.3525-6C>A" "r.(=)" "p.(=)" "" "0000290077" "00025234" "30" "378" "830" "378" "830" "c.378+830C>T" "r.(=)" "p.(=)" "" "0000290078" "00025234" "10" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Phe229=)" "" "0000290079" "00025234" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(Ala315=)" "" "0000321634" "00025234" "50" "1606" "0" "1606" "0" "c.1606A>C" "r.(?)" "p.(Asn536His)" "" "0000321635" "00025234" "30" "51" "0" "56" "0" "c.51_56dup" "r.(?)" "p.(Gly19_Gly20dup)" "" "0000339065" "00025234" "50" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Cys413Tyr)" "" "0000341329" "00025234" "90" "826" "0" "826" "0" "c.826G>C" "r.(?)" "p.(Ala276Pro)" "" "0000341709" "00025234" "50" "3128" "0" "3128" "0" "c.3128G>A" "r.(?)" "p.(Arg1043His)" "" "0000346557" "00025234" "50" "3247" "0" "3247" "0" "c.3247A>G" "r.(?)" "p.(Ile1083Val)" "" "0000349241" "00025234" "50" "3101" "0" "3101" "0" "c.3101C>A" "r.(?)" "p.(Thr1034Asn)" "" "0000541007" "00025234" "30" "3105" "0" "3105" "0" "c.3105G>A" "r.(?)" "p.(Pro1035=)" "" "0000541008" "00025234" "30" "3078" "0" "3078" "0" "c.3078C>T" "r.(?)" "p.(Asn1026=)" "" "0000541009" "00025234" "30" "3078" "0" "3078" "0" "c.3078C>T" "r.(?)" "p.(Asn1026=)" "" "0000541010" "00025234" "90" "2996" "0" "2996" "0" "c.2996A>G" "r.(?)" "p.(Asn999Ser)" "" "0000541011" "00025234" "30" "2985" "15" "2985" "15" "c.2985+15T>C" "r.(=)" "p.(=)" "" "0000541012" "00025234" "30" "2982" "0" "2982" "0" "c.2982C>T" "r.(?)" "p.(Ser994=)" "" "0000541013" "00025234" "30" "2583" "0" "2583" "0" "c.2583C>T" "r.(?)" "p.(Val861=)" "" "0000541014" "00025234" "50" "2365" "0" "2365" "0" "c.2365G>A" "r.(?)" "p.(Val789Met)" "" "0000541015" "00025234" "10" "2323" "-41" "2323" "-41" "c.2323-41C>T" "r.(=)" "p.(=)" "" "0000541017" "00025234" "90" "2144" "0" "2144" "0" "c.2144del" "r.(?)" "p.(Lys715SerfsTer17)" "" "0000541018" "00025234" "30" "2105" "-7696" "2105" "-7696" "c.2105-7696T>C" "r.(=)" "p.(=)" "" "0000541019" "00025234" "30" "2104" "16249" "2104" "16249" "c.2104+16249T>C" "r.(=)" "p.(=)" "" "0000541020" "00025234" "50" "2104" "10441" "2104" "10441" "c.2104+10441G>A" "r.(=)" "p.(=)" "" "0000541021" "00025234" "30" "2104" "10423" "2104" "10423" "c.2104+10423G>A" "r.(=)" "p.(=)" "" "0000541022" "00025234" "30" "2104" "3753" "2104" "3753" "c.2104+3753A>G" "r.(=)" "p.(=)" "" "0000541023" "00025234" "30" "2028" "-699" "2028" "-699" "c.2028-699T>A" "r.(=)" "p.(=)" "" "0000541024" "00025234" "10" "1929" "-162" "1929" "-162" "c.1929-162T>C" "r.(=)" "p.(=)" "" "0000541025" "00025234" "30" "1842" "0" "1842" "0" "c.1842C>T" "r.(?)" "p.(Ser614=)" "" "0000541026" "00025234" "30" "1749" "6" "1749" "6" "c.1749+6G>A" "r.(=)" "p.(=)" "" "0000541027" "00025234" "30" "1288" "0" "1288" "0" "c.1288C>A" "r.(?)" "p.(His430Asn)" "" "0000541028" "00025234" "30" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(Cys413=)" "" "0000541029" "00025234" "10" "884" "169" "884" "169" "c.884+169C>T" "r.(=)" "p.(=)" "" "0000541030" "00025234" "30" "603" "-89" "603" "-89" "c.603-89C>T" "r.(=)" "p.(=)" "" "0000541031" "00025234" "30" "378" "867" "378" "867" "c.378+867C>T" "r.(=)" "p.(=)" "" "0000541032" "00025234" "50" "378" "266" "378" "266" "c.378+266G>A" "r.(=)" "p.(=)" "" "0000541033" "00025234" "30" "365" "0" "365" "0" "c.365G>C" "r.(?)" "p.(Gly122Ala)" "" "0000541034" "00025234" "50" "187" "0" "187" "0" "c.187G>T" "r.(?)" "p.(Glu63Ter)" "" "0000541035" "00025234" "10" "135" "0" "137" "0" "c.135_137dup" "r.(?)" "p.(Ser60dup)" "" "0000541036" "00025234" "30" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(His30=)" "" "0000541038" "00025234" "50" "27" "0" "56" "0" "c.27_56del" "r.(?)" "p.(Gly13_Ser22del)" "" "0000541039" "00025234" "50" "15" "0" "16" "0" "c.15_16insAGC" "r.(?)" "p.(Gly5_Gly6insSer)" "" "0000612680" "00025234" "30" "1917" "0" "1917" "0" "c.1917C>T" "r.(?)" "p.(Asn639=)" "" "0000612681" "00025234" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Ala172Thr)" "" "0000612682" "00025234" "30" "378" "851" "378" "851" "c.378+851C>T" "r.(=)" "p.(=)" "" "0000612683" "00025234" "30" "31" "0" "31" "0" "c.31A>G" "r.(?)" "p.(Ser11Gly)" "" "0000622433" "00025234" "10" "135" "0" "137" "0" "c.135_137dup" "r.(?)" "p.(Ser60dup)" "" "0000648003" "00025234" "30" "3524" "513" "3524" "513" "c.3524+513C>A" "r.(=)" "p.(=)" "" "0000648004" "00025234" "50" "2364" "0" "2364" "0" "c.2364C>T" "r.(?)" "p.(Val788=)" "" "0000656567" "00025234" "30" "2775" "0" "2775" "0" "c.2775A>G" "r.(?)" "p.(Pro925=)" "" "0000656568" "00025234" "30" "1563" "0" "1563" "0" "c.1563C>A" "r.(?)" "p.(Ile521=)" "" "0000669083" "00025234" "30" "3524" "513" "3524" "513" "c.3524+513C>A" "r.(=)" "p.(=)" "" "0000678918" "00025234" "50" "3473" "0" "3473" "0" "c.3473C>T" "r.(?)" "p.(Thr1158Ile)" "" "0000678919" "00025234" "30" "2386" "0" "2386" "0" "c.2386G>A" "r.(?)" "p.(Val796Ile)" "" "0000678920" "00025234" "50" "2169" "0" "2169" "0" "c.2169C>G" "r.(?)" "p.(Asn723Lys)" "" "0000678921" "00025234" "30" "1940" "14" "1940" "14" "c.1940+14G>A" "r.(=)" "p.(=)" "" "0000678922" "00025234" "30" "135" "0" "137" "0" "c.135_137del" "r.(?)" "p.(Ser60del)" "" "0000690788" "00025234" "30" "2982" "0" "2982" "0" "c.2982C>T" "r.(?)" "p.(Ser994=)" "" "0000690789" "00025234" "30" "2676" "0" "2676" "0" "c.2676G>A" "r.(?)" "p.(Ala892=)" "" "0000690790" "00025234" "30" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(Cys413=)" "" "0000690791" "00025234" "30" "762" "0" "762" "0" "c.762G>A" "r.(?)" "p.(Thr254=)" "" "0000690792" "00025234" "30" "651" "0" "651" "0" "c.651C>T" "r.(?)" "p.(Ile217=)" "" "0000690793" "00025234" "30" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Ala138Val)" "" "0000690794" "00025234" "50" "51" "0" "56" "0" "c.51_56dup" "r.(?)" "p.(Gly19_Gly20dup)" "" "0000722940" "00025234" "50" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Gly1012Arg)" "" "0000722941" "00025234" "30" "2178" "0" "2178" "0" "c.2178C>T" "r.(?)" "p.(Asn726=)" "" "0000722942" "00025234" "30" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Ala138=)" "" "0000722943" "00025234" "50" "54" "0" "56" "0" "c.54_56dup" "r.(?)" "p.(Gly20dup)" "" "0000787452" "00025234" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "19" "0000804567" "00025234" "50" "3436" "0" "3436" "0" "c.3436A>G" "r.(?)" "p.(Ser1146Gly)" "" "0000804568" "00025234" "50" "2365" "0" "2365" "0" "c.2365G>A" "r.(?)" "p.(Val789Met)" "" "0000804569" "00025234" "50" "2102" "0" "2102" "0" "c.2102G>A" "r.(?)" "p.(Arg701Gln)" "" "0000804570" "00025234" "50" "378" "323" "378" "323" "c.378+323G>A" "r.(=)" "p.(=)" "" "0000804571" "00025234" "50" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Lys)" "" "0000804572" "00025234" "30" "54" "0" "56" "0" "c.54_56dup" "r.(?)" "p.(Gly20dup)" "" "0000852597" "00025234" "50" "2056" "0" "2056" "0" "c.2056G>A" "r.(?)" "p.(Asp686Asn)" "" "0000861996" "00025234" "30" "2178" "0" "2178" "0" "c.2178C>T" "r.(?)" "p.(Asn726=)" "" "0000861997" "00025234" "50" "2104" "10476" "2104" "10476" "c.2104+10476G>A" "r.(=)" "p.(=)" "" "0000889258" "00025234" "50" "2578" "0" "2578" "0" "c.2578G>T" "r.(?)" "p.(Ala860Ser)" "" "0000889259" "00025234" "50" "460" "0" "460" "0" "c.460G>T" "r.(?)" "p.(Ala154Ser)" "" "0000918282" "00025234" "70" "1127" "0" "1127" "0" "c.1127G>T" "r.(?)" "p.(Gly376Val)" "8" "0000929702" "00025234" "90" "1766" "0" "1766" "0" "c.1766G>A" "r.(?)" "p.(Trp589*)" "" "0000929703" "00025234" "70" "1148" "0" "1148" "0" "c.1148A>C" "r.(?)" "p.(Tyr383Ser)" "" "0000949450" "00025234" "50" "1554" "0" "1554" "0" "c.1554G>T" "r.(?)" "p.(Lys518Asn)" "" "0000965859" "00025234" "70" "3127" "0" "3127" "0" "c.3127C>T" "r.(?)" "p.(Arg1043Cys)" "" "0000965861" "00025234" "50" "2983" "0" "2983" "0" "c.2983G>A" "r.(?)" "p.(Ala995Thr)" "" "0000965863" "00025234" "30" "2548" "-19" "2548" "-19" "c.2548-19dup" "r.(=)" "p.(=)" "" "0000965865" "00025234" "30" "135" "0" "137" "0" "c.135_137del" "r.(?)" "p.(Ser60del)" "" "0000979160" "00025234" "50" "2404" "0" "2404" "0" "c.2404G>A" "r.(?)" "p.(Gly802Ser)" "" "0000979161" "00025234" "50" "2104" "10452" "2104" "10452" "c.2104+10452G>A" "r.(=)" "p.(=)" "" "0000979162" "00025234" "30" "1934" "0" "1934" "0" "c.1934G>A" "r.(?)" "p.(Arg645Gln)" "" "0000979163" "00025234" "30" "603" "-32648" "603" "-32648" "c.603-32648C>T" "r.(=)" "p.(=)" "" "0000979164" "00025234" "30" "378" "6292" "378" "6292" "c.378+6292C>T" "r.(=)" "p.(=)" "" "0000979165" "00025234" "50" "378" "256" "378" "256" "c.378+256T>C" "r.(=)" "p.(=)" "" "0000998521" "00025234" "50" "2794" "0" "2794" "0" "c.2794G>A" "r.(?)" "p.(Gly932Arg)" "" "0000998522" "00025234" "50" "2322" "4" "2322" "4" "c.2322+4A>G" "r.spl?" "p.?" "" "0000998523" "00025234" "30" "2104" "10473" "2104" "10473" "c.2104+10473C>T" "r.(=)" "p.(=)" "" "0000998524" "00025234" "30" "2104" "10450" "2104" "10450" "c.2104+10450G>A" "r.(=)" "p.(=)" "" "0000998525" "00025234" "30" "1632" "0" "1632" "0" "c.1632A>C" "r.(?)" "p.(Glu544Asp)" "" "0000998526" "00025234" "50" "1358" "0" "1358" "0" "c.1358A>T" "r.(?)" "p.(Glu453Val)" "" "0000998527" "00025234" "30" "378" "757" "378" "757" "c.378+757A>G" "r.(=)" "p.(=)" "" "0000998528" "00025234" "50" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Ser59Phe)" "" "0000998529" "00025234" "30" "54" "0" "56" "0" "c.54_56dup" "r.(?)" "p.(Gly20dup)" "" "0000998530" "00025234" "50" "29" "0" "30" "0" "c.29_30insAGG" "r.(?)" "p.(Gly10dup)" "" "0000998531" "00025234" "30" "15" "0" "16" "0" "c.15_16insAGC" "r.(?)" "p.(Gly5_Gly6insSer)" "" "0001014658" "00025234" "50" "3587" "0" "3587" "0" "c.*38C>A" "r.(=)" "p.(=)" "" "0001014659" "00025234" "50" "141" "0" "149" "0" "c.141_149del" "r.(?)" "p.(Ser58_Ser60del)" "" "0001018798" "00025234" "70" "2890" "0" "2890" "0" "c.2890G>A" "r.(?)" "p.(Asp964Asn)" "23" "0001025769" "00025234" "50" "2368" "0" "2368" "0" "c.2368G>T" "r.(?)" "p.(Val790Phe)" "" "0001025770" "00025234" "50" "135" "0" "137" "0" "c.135_137del" "r.(?)" "p.(Ser60del)" "" "0001038018" "00025234" "50" "2644" "0" "2644" "0" "c.2644A>G" "r.(?)" "p.(Thr882Ala)" "" "0001038019" "00025234" "30" "1593" "426" "1593" "426" "c.1593+426C>T" "r.(=)" "p.(=)" "" "0001038020" "00025234" "30" "378" "868" "378" "868" "c.378+868G>A" "r.(=)" "p.(=)" "" "0001046248" "00025234" "30" "378" "372" "378" "372" "c.378+372G>C" "r.(=)" "p.(=)" "" "0001053603" "00025234" "50" "3446" "0" "3446" "0" "c.3446G>A" "r.(?)" "p.(Ser1149Asn)" "" "0001053604" "00025234" "50" "2956" "0" "2956" "0" "c.2956G>A" "r.(?)" "p.(Val986Ile)" "" "0001053605" "00025234" "50" "2104" "10417" "2104" "10417" "c.2104+10417G>A" "r.(=)" "p.(=)" "" "0001053606" "00025234" "50" "378" "719" "378" "719" "c.378+719A>G" "r.(=)" "p.(=)" "" "0001053607" "00025234" "50" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(His30Arg)" "" "0001058801" "00025234" "90" "1606" "0" "1606" "0" "c.1606A>C" "r.(?)" "p.(Asn536His)" "" "0001065275" "00025234" "50" "2105" "-4426" "2105" "-4426" "c.2105-4426G>A" "r.(=)" "p.(=)" "" "0001065276" "00025234" "50" "1446" "0" "1446" "0" "c.1446G>T" "r.(?)" "p.(Glu482Asp)" "" "0001065277" "00025234" "50" "812" "0" "812" "0" "c.812T>C" "r.(?)" "p.(Leu271Ser)" "" "0001065278" "00025234" "50" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Gly20Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012855" "0000132890" "0000222073" "0000132891" "0000222074" "0000132892" "0000222075" "0000132893" "0000222076" "0000132894" "0000222077" "0000291314" "0000648003" "0000291315" "0000648004" "0000305395" "0000669083" "0000375426" "0000787452" "0000432709" "0000918282" "0000459865" "0001018798" "0000470679" "0001058801"