### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNH1) # 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}}" "KCNH1" "potassium voltage-gated channel, subfamily H (eag-related), member 1" "1" "q32.2" "unknown" "NG_029777.1" "UD_132084555681" "" "http://www.LOVD.nl/KCNH1" "" "1" "6250" "3756" "603305" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/KCNH1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-03-27 18:23:16" "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}}" "00024030" "KCNH1" "transcript variant 1" "002" "NM_172362.2" "" "NP_758872.1" "" "" "" "-170" "7936" "2970" "211307457" "210851657" "00006" "2015-03-27 18:22:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04232" "TMBTS" "Temple-Baraitser syndrome (TMBTS)" "AD" "611816" "" "" "" "00006" "2015-03-30 22:45:59" "00006" "2021-12-10 21:51:32" "04541" "ZLS1" "Zimmermann-Laband syndrome, type 1 (ZLS1)" "AD" "135500" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05610" "ZLS" "Zimmermann-Laband syndrome (ZLS)" "" "" "" "" "" "00006" "2019-06-11 17:18:31" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KCNH1" "04232" "KCNH1" "04541" "KCNH1" "05610" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00037515" "" "" "" "1" "" "00081" "{PMID:Simons C 2015:25420144}" "" "M" "no" "Australia" "" "0" "" "" "" "" "00037516" "" "" "" "1" "" "00081" "{PMID:Simons C 2015:25420144}" "" "F" "no" "United States" "" "0" "" "" "white" "" "00037517" "" "" "" "1" "" "00081" "{PMID:Simons C 2015:25420144}" "" "M" "no" "Turkey" "" "0" "" "" "" "" "00037518" "" "" "" "1" "" "00081" "{PMID:Simons C 2015:25420144}" "" "F" "no" "Algeria" "" "0" "" "" "" "" "00269899" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00325944" "" "" "" "1" "" "03966" "Gripp 2021, submitted" "" "F" "-" "" "" "" "" "" "" "#1" "00325945" "" "" "" "1" "" "03966" "Gripp 2021, submitted" "" "F" "" "" "" "" "" "" "" "#2" "00325946" "" "" "" "1" "" "03966" "Gripp 2021, submitted" "" "M" "" "" "" "" "" "" "" "#3" "00325947" "" "" "" "1" "" "03966" "Gripp 2021, submitted" "" "F" "" "" "" "" "" "" "" "#4" "00325948" "" "" "" "1" "" "03966" "Gripp 2021, submitted" "" "F" "" "" "" "" "" "" "" "#5" "00403874" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF075" "00426130" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, no other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "10DK15200" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00037515" "04232" "00037516" "04232" "00037517" "04232" "00037518" "04232" "00269899" "00198" "00325944" "00198" "00325945" "00198" "00325946" "00198" "00325947" "00198" "00325948" "00198" "00403874" "05611" "00426130" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04232, 04541, 05610, 05611 ## 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}}" "0000028297" "04232" "00037516" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028298" "04232" "00037518" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000207695" "00198" "00269899" "01807" "Unknown" "" "Epileptic encephalopathy (HP:0200134); Respiratory insufficiency (HP:0002093); Neonatal breathing dysregulation (HP:0002790); Joint laxity (HP:0001388); Generalized hypotonia (HP:0001290); Cryptorchidism (HP:0000028)" "" "" "" "" "" "" "" "" "" "" "" "0000244430" "00198" "00325944" "03966" "Isolated (sporadic)" "" "Zimmermann-laband Syndrome 1 OMIM:135500" "" "" "" "" "" "" "" "" "ZLS-1" "" "" "0000244431" "00198" "00325945" "03966" "Isolated (sporadic)" "" "Zimmermann-laband Syndrome 1 OMIM:135500" "" "" "" "" "" "" "" "" "ZLS-1" "" "" "0000244432" "00198" "00325946" "03966" "Isolated (sporadic)" "" "Zimmermann-laband Syndrome 1 OMIM:135500" "" "" "" "" "" "" "" "" "ZLS-1" "" "" "0000244433" "00198" "00325947" "03966" "Isolated (sporadic)" "" "Zimmermann-laband Syndrome 1 OMIM:135500" "" "" "" "" "" "" "" "" "ZLS-1" "" "" "0000244434" "00198" "00325948" "03966" "Isolated (sporadic)" "" "Zimmermann-laband Syndrome 1 OMIM:135500" "" "" "" "" "" "" "" "" "ZLS-1" "" "" "0000296554" "05611" "00403874" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000317280" "00139" "00426130" "00006" "Familial, autosomal dominant" "21y" "" "" "" "" "" "" "" "" "" "Zimmermann-Laband syndrome 1" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037584" "00037515" "1" "00081" "00081" "2015-04-04 22:28:14" "" "" "SEQ-NG" "DNA" "" "" "0000037585" "00037516" "1" "00081" "00081" "2015-04-04 22:32:01" "" "" "SEQ-NG" "DNA" "" "" "0000037586" "00037517" "1" "00081" "00081" "2015-04-04 22:34:31" "" "" "SEQ-NG" "DNA" "" "" "0000037587" "00037518" "1" "00081" "00081" "2015-04-04 22:36:39" "" "" "SEQ-NG" "DNA" "" "" "0000271052" "00269899" "1" "01807" "01807" "2019-12-10 12:32:09" "" "" "SEQ" "DNA" "" "" "0000327154" "00325944" "1" "03966" "03966" "2021-01-06 10:57:08" "03966" "2021-01-07 13:46:44" "SEQ-NG" "DNA" "" "" "0000327155" "00325945" "1" "03966" "03966" "2021-01-06 11:15:25" "03966" "2021-01-07 13:52:02" "SEQ-NG" "DNA" "" "" "0000327156" "00325946" "1" "03966" "03966" "2021-01-06 11:22:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000327157" "00325947" "1" "03966" "03966" "2021-01-06 11:32:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000327158" "00325948" "1" "03966" "03966" "2021-01-06 11:38:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000405112" "00403874" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427450" "00426130" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000037584" "KCNH1" "0000037585" "KCNH1" "0000037586" "KCNH1" "0000037587" "KCNH1" ## 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 = 73 "{{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}}" "0000064712" "0" "90" "1" "210977463" "210977463" "subst" "0" "00081" "KCNH1_000001" "g.210977463T>C" "" "{PMID:Simons C et al. 2015:25420144}" "" "" "" "De novo" "" "" "0" "" "" "g.210804121T>C" "" "pathogenic" "" "0000064713" "0" "90" "1" "210977506" "210977506" "subst" "0" "00081" "KCNH1_000002" "g.210977506G>A" "" "{PMID:Simons C et al. 2015:25420144}" "" "" "" "De novo" "" "" "0" "" "" "g.210804164G>A" "" "pathogenic" "" "0000064714" "0" "90" "1" "210977491" "210977491" "subst" "0" "00081" "KCNH1_000003" "g.210977491T>C" "" "{PMID:Simons C et al. 2015:25420144}" "" "" "" "De novo" "" "" "0" "" "" "g.210804149T>C" "" "pathogenic" "" "0000064715" "0" "90" "1" "211192506" "211192506" "subst" "0" "00081" "KCNH1_000004" "g.211192506C>G" "" "{PMID:Simons C et al. 2015:25420144}" "" "" "" "De novo" "" "" "0" "" "" "g.211019164C>G" "" "pathogenic" "" "0000253393" "0" "10" "1" "211280738" "211280738" "del" "0" "01943" "KCNH1_000013" "g.211280738del" "" "" "" "KCNH1(NM_002238.3):c.80-6del (p.(=)), KCNH1(NM_172362.2):c.80-6delT, KCNH1(NM_172362.3):c.80-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211107396del" "" "benign" "" "0000285500" "0" "30" "1" "211280738" "211280738" "del" "0" "02326" "KCNH1_000011" "g.211280738del" "" "" "" "KCNH1(NM_002238.3):c.80-6del (p.(=)), KCNH1(NM_172362.2):c.80-6delT, KCNH1(NM_172362.3):c.80-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211107396del" "" "likely benign" "" "0000290050" "0" "90" "1" "211093374" "211093374" "subst" "0" "01943" "KCNH1_000008" "g.211093374C>T" "" "" "" "KCNH1(NM_172362.2):c.1070G>A (p.R357Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.210920032C>T" "" "pathogenic" "" "0000290051" "0" "30" "1" "210856989" "210856989" "subst" "0.00227805" "01943" "KCNH1_000006" "g.210856989C>T" "" "" "" "KCNH1(NM_172362.2):c.2604G>A (p.A868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.210683647C>T" "" "likely benign" "" "0000290052" "0" "50" "1" "210856983" "210856983" "subst" "0.000715983" "01943" "KCNH1_000005" "g.210856983G>A" "" "" "" "KCNH1(NM_172362.2):c.2610C>T (p.G870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.210683641G>A" "" "VUS" "" "0000290053" "0" "30" "1" "211307206" "211307206" "subst" "0" "01943" "KCNH1_000012" "g.211307206T>C" "" "" "" "KCNH1(NM_172362.2):c.79+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211133864T>C" "" "likely benign" "" "0000290054" "0" "10" "1" "211280737" "211280738" "del" "0" "01943" "KCNH1_000010" "g.211280737_211280738del" "" "" "" "KCNH1(NM_002238.3):c.80-7_80-6del (p.(=)), KCNH1(NM_172362.2):c.80-7_80-6delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211107395_211107396del" "" "benign" "" "0000321284" "0" "30" "1" "211280738" "211280738" "del" "0" "01804" "KCNH1_000011" "g.211280738del" "" "" "" "KCNH1(NM_002238.3):c.80-6del (p.(=)), KCNH1(NM_172362.2):c.80-6delT, KCNH1(NM_172362.3):c.80-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211107396del" "" "likely benign" "" "0000342721" "0" "90" "1" "211093374" "211093374" "subst" "0" "02327" "KCNH1_000008" "g.211093374C>T" "" "" "" "KCNH1(NM_172362.2):c.1070G>A (p.R357Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.210920032C>T" "" "pathogenic" "" "0000505059" "0" "50" "1" "210856790" "210856790" "subst" "0" "02327" "KCNH1_000014" "g.210856790C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.210683448C>A" "" "VUS" "" "0000505060" "0" "30" "1" "210856825" "210856825" "subst" "0.000312675" "01804" "KCNH1_000015" "g.210856825T>G" "" "" "" "KCNH1(NM_002238.3):c.2687A>C (p.(Gln896Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.210683483T>G" "" "likely benign" "" "0000505061" "0" "50" "1" "210857005" "210857005" "subst" "0" "02327" "KCNH1_000016" "g.210857005G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.210683663G>T" "" "VUS" "" "0000505063" "0" "30" "1" "210857174" "210857174" "subst" "5.69282E-5" "02326" "KCNH1_000018" "g.210857174C>T" "" "" "" "KCNH1(NM_172362.3):c.2419G>A (p.G807R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.210683832C>T" "" "likely benign" "" "0000505066" "0" "30" "1" "210971032" "210971032" "subst" "0" "02327" "KCNH1_000021" "g.210971032T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.210797690T>A" "" "likely benign" "" "0000505067" "0" "50" "1" "211280659" "211280659" "subst" "0" "01943" "KCNH1_000022" "g.211280659T>C" "" "" "" "KCNH1(NM_172362.2):c.140A>G (p.D47G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211107317T>C" "" "VUS" "" "0000505068" "0" "30" "1" "211280737" "211280738" "del" "0" "01804" "KCNH1_000010" "g.211280737_211280738del" "" "" "" "KCNH1(NM_002238.3):c.80-7_80-6del (p.(=)), KCNH1(NM_172362.2):c.80-7_80-6delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211107395_211107396del" "" "likely benign" "" "0000505069" "0" "30" "1" "211280738" "211280738" "dup" "0" "01804" "KCNH1_000023" "g.211280738dup" "" "" "" "KCNH1(NM_002238.3):c.80-6dupT (p.(=)), KCNH1(NM_172362.2):c.80-6dupT, KCNH1(NM_172362.3):c.80-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211107396dup" "" "likely benign" "" "0000505070" "0" "30" "1" "211280738" "211280738" "dup" "0" "02326" "KCNH1_000023" "g.211280738dup" "" "" "" "KCNH1(NM_002238.3):c.80-6dupT (p.(=)), KCNH1(NM_172362.2):c.80-6dupT, KCNH1(NM_172362.3):c.80-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211107396dup" "" "likely benign" "" "0000605125" "0" "10" "1" "210857500" "210857501" "del" "0" "02325" "KCNH1_000027" "g.210857500_210857501del" "" "" "" "KCNH1(NM_172362.3):c.2113-5_2113-4delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.210684158_210684159del" "" "benign" "" "0000605127" "0" "70" "1" "210977485" "210977485" "subst" "0" "02327" "KCNH1_000029" "g.210977485C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.210804143C>T" "" "likely pathogenic" "" "0000620488" "0" "50" "1" "210857218" "210857218" "subst" "0" "02325" "KCNH1_000026" "g.210857218T>C" "" "" "" "KCNH1(NM_172362.3):c.2375A>G (p.E792G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.210683876T>C" "" "VUS" "" "0000624900" "0" "70" "1" "210977497" "210977497" "subst" "0" "01807" "KCNH1_000030" "g.210977497C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.210804155C>T" "" "likely pathogenic" "" "0000653872" "0" "30" "1" "210857498" "210857501" "dup" "0" "02326" "KCNH1_000007" "g.210857498_210857501dup" "" "" "" "KCNH1(NM_172362.3):c.2113-7_2113-4dupTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000653873" "0" "50" "1" "210971047" "210971047" "subst" "0" "02325" "KCNH1_000031" "g.210971047C>T" "" "" "" "KCNH1(NM_172362.3):c.1718G>A (p.R573H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.210797705C>T" "" "VUS" "" "0000675623" "0" "30" "1" "210977447" "210977447" "subst" "8.12585E-5" "02326" "KCNH1_000032" "g.210977447G>A" "" "" "" "KCNH1(NM_172362.3):c.1524C>T (p.N508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675624" "0" "30" "1" "211280738" "211280738" "dup" "0" "01943" "KCNH1_000023" "g.211280738dup" "" "" "" "KCNH1(NM_002238.3):c.80-6dupT (p.(=)), KCNH1(NM_172362.2):c.80-6dupT, KCNH1(NM_172362.3):c.80-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688005" "0" "30" "1" "210857221" "210857221" "subst" "8.12645E-5" "02325" "KCNH1_000033" "g.210857221C>T" "" "" "" "KCNH1(NM_172362.3):c.2372G>A (p.R791H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688006" "0" "10" "1" "211280738" "211280738" "dup" "0" "02325" "KCNH1_000023" "g.211280738dup" "" "" "" "KCNH1(NM_002238.3):c.80-6dupT (p.(=)), KCNH1(NM_172362.2):c.80-6dupT, KCNH1(NM_172362.3):c.80-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000703846" "0" "90" "1" "211093308" "211093308" "subst" "0" "03779" "KCNH1_000034" "g.211093308A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs878853026" "0" "" "" "" "" "pathogenic" "" "0000710808" "0" "90" "1" "210977484" "210977484" "subst" "0" "03966" "KCNH1_000036" "g.210977484C>T" "" "Gripp 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000710809" "0" "90" "1" "211093374" "211093374" "subst" "0" "03966" "KCNH1_000008" "g.211093374C>T" "" "Gripp 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000710810" "0" "90" "1" "210977506" "210977506" "subst" "0" "03966" "KCNH1_000002" "g.210977506G>A" "" "Gripp 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000710811" "0" "70" "1" "211093384" "211093384" "subst" "0" "03966" "KCNH1_000035" "g.211093384T>C" "" "Gripp 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000710812" "0" "90" "1" "210977485" "210977485" "subst" "0" "03966" "KCNH1_000029" "g.210977485C>T" "" "Gripp 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000717128" "0" "50" "1" "210856796" "210856796" "subst" "1.21818E-5" "02329" "KCNH1_000025" "g.210856796G>T" "" "" "" "KCNH1(NM_172362.3):c.2797C>A (p.L933M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717129" "0" "30" "1" "210856932" "210856932" "subst" "0.000381887" "01943" "KCNH1_000037" "g.210856932G>A" "" "" "" "KCNH1(NM_172362.2):c.2661C>T (p.S887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799054" "0" "30" "1" "210856749" "210856749" "subst" "1.62422E-5" "01943" "KCNH1_000038" "g.210856749C>G" "" "" "" "KCNH1(NM_172362.2):c.2844G>C (p.E948D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799055" "0" "50" "1" "210977365" "210977365" "subst" "0" "01943" "KCNH1_000039" "g.210977365C>T" "" "" "" "KCNH1(NM_172362.2):c.1606G>A (p.V536I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799056" "0" "30" "1" "211280724" "211280725" "del" "0" "01943" "KCNH1_000040" "g.211280724_211280725del" "" "" "" "KCNH1(NM_172362.2):c.80-6_80-5delTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799057" "0" "30" "1" "211280726" "211280726" "subst" "0" "01943" "KCNH1_000041" "g.211280726A>C" "" "" "" "KCNH1(NM_172362.2):c.80-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841173" "0" "90" "1" "210977497" "210977497" "subst" "0" "00006" "KCNH1_000030" "g.210977497C>T" "" "{PMID:Froukh 2020:32056211}" "" "" "" "De novo" "" "" "0" "" "" "g.210804155C>T" "" "pathogenic (dominant)" "" "0000848504" "0" "10" "1" "210857500" "210857501" "dup" "0" "02325" "KCNH1_000042" "g.210857500_210857501dup" "" "" "" "KCNH1(NM_172362.3):c.2113-5_2113-4dupTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848505" "0" "70" "1" "210971033" "210971033" "subst" "0" "02327" "KCNH1_000044" "g.210971033C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000848506" "0" "10" "1" "211280738" "211280738" "del" "0" "02325" "KCNH1_000011" "g.211280738del" "" "" "" "KCNH1(NM_002238.3):c.80-6del (p.(=)), KCNH1(NM_172362.2):c.80-6delT, KCNH1(NM_172362.3):c.80-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857249" "0" "50" "1" "210948793" "210948793" "subst" "0" "02326" "KCNH1_000043" "g.210948793T>C" "" "" "" "KCNH1(NM_172362.3):c.2009A>G (p.H670R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857250" "0" "90" "1" "211093321" "211093321" "subst" "0" "02327" "KCNH1_000045" "g.211093321C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883095" "0" "50" "1" "210856848" "210856848" "subst" "0" "02325" "KCNH1_000046" "g.210856848G>T" "" "" "" "KCNH1(NM_172362.3):c.2745C>A (p.Y915*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000904810" "0" "70" "1" "210856935" "210856935" "subst" "0" "00006" "KCNH1_000047" "g.210856935C>G" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.210683593C>G" "" "VUS" "" "0000910924" "0" "10" "1" "210856604" "210856604" "subst" "0.0558313" "02325" "KCNH1_000048" "g.210856604T>G" "" "" "" "KCNH1(NM_172362.3):c.*19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910925" "0" "10" "1" "210857457" "210857457" "subst" "0.710134" "02325" "KCNH1_000049" "g.210857457A>G" "" "" "" "KCNH1(NM_172362.3):c.2136T>C (p.D712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928102" "0" "30" "1" "210857234" "210857234" "subst" "2.03188E-5" "02325" "KCNH1_000050" "g.210857234C>T" "" "" "" "KCNH1(NM_172362.3):c.2359G>A (p.V787M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947114" "0" "50" "1" "210857335" "210857335" "subst" "0" "02325" "KCNH1_000051" "g.210857335G>A" "" "" "" "KCNH1(NM_172362.3):c.2258C>T (p.A753V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960774" "0" "30" "1" "210857500" "210857501" "dup" "0" "02329" "KCNH1_000042" "g.210857500_210857501dup" "" "" "" "KCNH1(NM_172362.3):c.2113-5_2113-4dupTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973605" "0" "50" "1" "210857131" "210857131" "subst" "8.14246E-6" "01804" "KCNH1_000053" "g.210857131C>T" "" "" "" "KCNH1(NM_172362.3):c.2462G>A (p.(Cys821Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973606" "0" "50" "1" "210857225" "210857225" "subst" "8.12678E-6" "01804" "KCNH1_000054" "g.210857225C>T" "" "" "" "KCNH1(NM_172362.3):c.2368G>A (p.(Val790Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973607" "0" "30" "1" "210887306" "210887306" "subst" "0" "01804" "KCNH1_000055" "g.210887306C>A" "" "" "" "KCNH1(NM_172362.3):c.2113-29826G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973608" "0" "30" "1" "211243772" "211243773" "ins" "0" "01804" "KCNH1_000056" "g.211243772_211243773insC" "" "" "" "KCNH1(NM_172362.3):c.558+12349_558+12350insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990796" "0" "50" "1" "210856830" "210856830" "subst" "0" "01804" "KCNH1_000057" "g.210856830C>G" "" "" "" "KCNH1(NM_172362.2):c.2763G>C (p.(Glu921Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990797" "0" "30" "1" "210857345" "210857345" "subst" "0" "01804" "KCNH1_000058" "g.210857345C>A" "" "" "" "KCNH1(NM_002238.3):c.2167G>T (p.(Ala723Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990798" "0" "30" "1" "210857434" "210857434" "subst" "2.90738E-5" "01804" "KCNH1_000059" "g.210857434C>T" "" "" "" "KCNH1(NM_002238.3):c.2078G>A (p.(Arg693His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990799" "0" "30" "1" "210948781" "210948781" "subst" "4.06253E-5" "01804" "KCNH1_000060" "g.210948781C>T" "" "" "" "KCNH1(NM_002238.3):c.1940G>A (p.(Arg647Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990800" "0" "30" "1" "211276876" "211276876" "subst" "0" "01804" "KCNH1_000061" "g.211276876T>G" "" "" "" "KCNH1(NM_172362.2):c.272A>C (p.(Glu91Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031634" "0" "30" "1" "210856703" "210856704" "del" "0" "01804" "KCNH1_000062" "g.210856703_210856704del" "" "" "" "KCNH1(NM_172362.3):c.2892_2893del (p.(Gln965Valfs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031635" "0" "50" "1" "210856759" "210856759" "subst" "0" "02325" "KCNH1_000063" "g.210856759G>T" "" "" "" "KCNH1(NM_172362.3):c.2834C>A (p.T945N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031636" "0" "50" "1" "210856855" "210856855" "subst" "0" "01804" "KCNH1_000064" "g.210856855G>A" "" "" "" "KCNH1(NM_172362.3):c.2738C>T (p.(Ser913Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031637" "0" "30" "1" "210856990" "210856990" "subst" "4.06818E-5" "01804" "KCNH1_000065" "g.210856990G>A" "" "" "" "KCNH1(NM_172362.3):c.2603C>T (p.(Ala868Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031638" "0" "30" "1" "211192214" "211192214" "subst" "2.43795E-5" "01804" "KCNH1_000066" "g.211192214C>T" "" "" "" "KCNH1(NM_172362.3):c.943G>A (p.(Val315Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031639" "0" "30" "1" "211256428" "211256428" "subst" "0" "01804" "KCNH1_000067" "g.211256428T>C" "" "" "" "KCNH1(NM_172362.3):c.440-188A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045642" "0" "50" "1" "210856722" "210856722" "subst" "0" "02326" "KCNH1_000068" "g.210856722T>C" "" "" "" "KCNH1(NM_172362.3):c.2871A>G (p.I957M)" "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 KCNH1 ## Count = 73 "{{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}}" "0000064712" "00024030" "90" "1508" "0" "1508" "0" "c.1508A>G" "r.(?)" "p.(Gln503Arg)" "" "0000064713" "00024030" "90" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Leu489Phe)" "" "0000064714" "00024030" "90" "1480" "0" "1480" "0" "c.1480A>G" "r.(?)" "p.(Ile494Val)" "" "0000064715" "00024030" "90" "651" "0" "651" "0" "c.651G>C" "r.(?)" "p.(Lys217Asn)" "" "0000253393" "00024030" "10" "80" "-6" "80" "-6" "c.80-6del" "r.(=)" "p.(=)" "" "0000285500" "00024030" "30" "80" "-6" "80" "-6" "c.80-6del" "r.(=)" "p.(=)" "" "0000290050" "00024030" "90" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Arg357Gln)" "" "0000290051" "00024030" "30" "2604" "0" "2604" "0" "c.2604G>A" "r.(?)" "p.(Ala868=)" "" "0000290052" "00024030" "50" "2610" "0" "2610" "0" "c.2610C>T" "r.(?)" "p.(Gly870=)" "" "0000290053" "00024030" "30" "79" "3" "79" "3" "c.79+3A>G" "r.spl?" "p.?" "" "0000290054" "00024030" "10" "80" "-7" "80" "-6" "c.80-7_80-6del" "r.(=)" "p.(=)" "" "0000321284" "00024030" "30" "80" "-6" "80" "-6" "c.80-6del" "r.(=)" "p.(=)" "" "0000342721" "00024030" "90" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Arg357Gln)" "" "0000505059" "00024030" "50" "2803" "0" "2803" "0" "c.2803G>T" "r.(?)" "p.(Glu935Ter)" "" "0000505060" "00024030" "30" "2768" "0" "2768" "0" "c.2768A>C" "r.(?)" "p.(Gln923Pro)" "" "0000505061" "00024030" "50" "2588" "0" "2588" "0" "c.2588C>A" "r.(?)" "p.(Pro863His)" "" "0000505063" "00024030" "30" "2419" "0" "2419" "0" "c.2419G>A" "r.(?)" "p.(Gly807Arg)" "" "0000505066" "00024030" "30" "1733" "0" "1733" "0" "c.1733A>T" "r.(?)" "p.(Glu578Val)" "" "0000505067" "00024030" "50" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Asp47Gly)" "" "0000505068" "00024030" "30" "80" "-7" "80" "-6" "c.80-7_80-6del" "r.(=)" "p.(=)" "" "0000505069" "00024030" "30" "80" "-6" "80" "-6" "c.80-6dup" "r.(=)" "p.(=)" "" "0000505070" "00024030" "30" "80" "-6" "80" "-6" "c.80-6dup" "r.(=)" "p.(=)" "" "0000605125" "00024030" "10" "2113" "-5" "2113" "-4" "c.2113-5_2113-4del" "r.spl?" "p.?" "" "0000605127" "00024030" "70" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Gly496Arg)" "" "0000620488" "00024030" "50" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.(Glu792Gly)" "" "0000624900" "00024030" "70" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Ala492Thr)" "" "0000653872" "00024030" "30" "2113" "-7" "2113" "-4" "c.2113-7_2113-4dup" "r.spl?" "p.?" "" "0000653873" "00024030" "50" "1718" "0" "1718" "0" "c.1718G>A" "r.(?)" "p.(Arg573His)" "" "0000675623" "00024030" "30" "1524" "0" "1524" "0" "c.1524C>T" "r.(?)" "p.(Asn508=)" "" "0000675624" "00024030" "30" "80" "-6" "80" "-6" "c.80-6dup" "r.(=)" "p.(=)" "" "0000688005" "00024030" "30" "2372" "0" "2372" "0" "c.2372G>A" "r.(?)" "p.(Arg791His)" "" "0000688006" "00024030" "10" "80" "-6" "80" "-6" "c.80-6dup" "r.(=)" "p.(=)" "" "0000703846" "00024030" "90" "1136" "0" "1136" "0" "c.1136T>C" "r.(?)" "p.(Leu379Pro)" "" "0000710808" "00024030" "90" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Gly496Glu)" "" "0000710809" "00024030" "90" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Arg357Gln)" "" "0000710810" "00024030" "90" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Leu489Phe)" "" "0000710811" "00024030" "70" "1060" "0" "1060" "0" "c.1060A>G" "r.(?)" "p.(Lys354Glu)" "" "0000710812" "00024030" "90" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Gly496Arg)" "" "0000717128" "00024030" "50" "2797" "0" "2797" "0" "c.2797C>A" "r.(?)" "p.(Leu933Met)" "" "0000717129" "00024030" "30" "2661" "0" "2661" "0" "c.2661C>T" "r.(?)" "p.(Ser887=)" "" "0000799054" "00024030" "30" "2844" "0" "2844" "0" "c.2844G>C" "r.(?)" "p.(Glu948Asp)" "" "0000799055" "00024030" "50" "1606" "0" "1606" "0" "c.1606G>A" "r.(?)" "p.(Val536Ile)" "" "0000799056" "00024030" "30" "80" "-6" "80" "-5" "c.80-6_80-5del" "r.spl?" "p.?" "" "0000799057" "00024030" "30" "80" "-7" "80" "-7" "c.80-7T>G" "r.(=)" "p.(=)" "" "0000841173" "00024030" "90" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Ala492Thr)" "" "0000848504" "00024030" "10" "2113" "-5" "2113" "-4" "c.2113-5_2113-4dup" "r.spl?" "p.?" "" "0000848505" "00024030" "70" "1732" "0" "1732" "0" "c.1732G>A" "r.(?)" "p.(Glu578Lys)" "" "0000848506" "00024030" "10" "80" "-6" "80" "-6" "c.80-6del" "r.(=)" "p.(=)" "" "0000857249" "00024030" "50" "2009" "0" "2009" "0" "c.2009A>G" "r.(?)" "p.(His670Arg)" "" "0000857250" "00024030" "90" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Gly375Arg)" "" "0000883095" "00024030" "50" "2745" "0" "2745" "0" "c.2745C>A" "r.(?)" "p.(Tyr915*)" "" "0000904810" "00024030" "70" "2658" "0" "2658" "0" "c.2658G>C" "r.(?)" "p.(Lys886Asn)" "" "0000910924" "00024030" "10" "2989" "0" "2989" "0" "c.*19A>C" "r.(=)" "p.(=)" "" "0000910925" "00024030" "10" "2136" "0" "2136" "0" "c.2136T>C" "r.(?)" "p.(Asp712=)" "" "0000928102" "00024030" "30" "2359" "0" "2359" "0" "c.2359G>A" "r.(?)" "p.(Val787Met)" "" "0000947114" "00024030" "50" "2258" "0" "2258" "0" "c.2258C>T" "r.(?)" "p.(Ala753Val)" "" "0000960774" "00024030" "30" "2113" "-5" "2113" "-4" "c.2113-5_2113-4dup" "r.spl?" "p.?" "" "0000973605" "00024030" "50" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.(Cys821Tyr)" "" "0000973606" "00024030" "50" "2368" "0" "2368" "0" "c.2368G>A" "r.(?)" "p.(Val790Met)" "" "0000973607" "00024030" "30" "2113" "-29826" "2113" "-29826" "c.2113-29826G>T" "r.(=)" "p.(=)" "" "0000973608" "00024030" "30" "558" "12349" "558" "12350" "c.558+12349_558+12350insG" "r.(=)" "p.(=)" "" "0000990796" "00024030" "50" "2763" "0" "2763" "0" "c.2763G>C" "r.(?)" "p.(=)" "" "0000990797" "00024030" "30" "2248" "0" "2248" "0" "c.2248G>T" "r.(?)" "p.(Ala750Ser)" "" "0000990798" "00024030" "30" "2159" "0" "2159" "0" "c.2159G>A" "r.(?)" "p.(Arg720His)" "" "0000990799" "00024030" "30" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Arg674Gln)" "" "0000990800" "00024030" "30" "272" "0" "272" "0" "c.272A>C" "r.(?)" "p.(Glu91Ala)" "" "0001031634" "00024030" "30" "2892" "0" "2893" "0" "c.2892_2893del" "r.(?)" "p.(Gln965Valfs*7)" "" "0001031635" "00024030" "50" "2834" "0" "2834" "0" "c.2834C>A" "r.(?)" "p.(Thr945Asn)" "" "0001031636" "00024030" "50" "2738" "0" "2738" "0" "c.2738C>T" "r.(?)" "p.(Ser913Leu)" "" "0001031637" "00024030" "30" "2603" "0" "2603" "0" "c.2603C>T" "r.(?)" "p.(Ala868Val)" "" "0001031638" "00024030" "30" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Val315Met)" "" "0001031639" "00024030" "30" "440" "-188" "440" "-188" "c.440-188A>G" "r.(=)" "p.(=)" "" "0001045642" "00024030" "50" "2871" "0" "2871" "0" "c.2871A>G" "r.(?)" "p.(Ile957Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000037584" "0000064712" "0000037585" "0000064713" "0000037586" "0000064714" "0000037587" "0000064715" "0000271052" "0000624900" "0000327154" "0000710808" "0000327155" "0000710809" "0000327156" "0000710810" "0000327157" "0000710811" "0000327158" "0000710812" "0000405112" "0000841173" "0000427450" "0000904810"