### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRPM6) # 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}}" "TRPM6" "transient receptor potential cation channel, subfamily M, member 6" "9" "q21.13" "unknown" "NG_017036.1" "UD_132118876661" "" "https://www.LOVD.nl/TRPM6" "" "1" "17995" "140803" "607009" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TRPM6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-05-02 08:13:05" "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}}" "00021911" "TRPM6" "transcript variant a" "001" "NM_017662.4" "" "NP_060132.3" "" "" "" "-238" "8187" "6069" "77503010" "77337411" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "00394" "HOMG1" "hypomagnesemia 1, intestinal" "AR" "602014" "" "" "" "00006" "2014-05-30 14:05:18" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TRPM6" "00394" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00016698" "" "" "" "1" "" "00713" "{PMID:Schlingmann 2002:12032568}" "5-generation family, 2 affecteds (F1.1, F1.2), unaffected carriers" "F" "yes" "Turkey" "" "0" "" "" "white" "" "00016701" "" "" "" "1" "" "00713" "{PMID:Schlingmann 2002:12032568}" "4-generation family, 1 affected, unaffected carrier parents" "M" "yes" "Turkey" "" "0" "" "" "white" "" "00016705" "" "" "" "1" "" "00713" "{PMID:Schlingmann 2002:12032568}" "" "F" "" "Sweden" "" "0" "" "" "white" "" "00016707" "" "" "" "1" "" "00713" "{PMID:Schlingmann 2002:12032568}" "" "?" "no" "Israel" "" "0" "" "" "Jewish" "" "00016708" "" "" "" "1" "" "00713" "{PMID:Schlingmann 2002:12032568}" "4-generation family, 2 affected sisters (F5.1/F5.2), unaffected carrier parents" "F" "yes" "Albania" "" "0" "" "" "white" "" "00016843" "" "" "" "1" "" "00713" "{PMID:Schlingmann 2002:12032568}" "4-generation family, 2 affected sisters (F5.1/F5.2), unaffected carrier parents" "F" "yes" "Albania" "" "0" "" "" "" "" "00231400" "" "" "" "3" "" "02473" "" "" "F" "yes" "Oman" "05y" "0" "" "" "" "John Sayer" "00294883" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00414236" "" "" "" "1" "" "01164" "" "" "F" "likely" "Germany" "" "0" "" "" "" "201120" "00427997" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "M" "" "Australia" "" "0" "" "" "" "A089" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00016698" "00394" "00016701" "00394" "00016705" "00394" "00016707" "00394" "00016708" "00394" "00016843" "00394" "00231400" "00394" "00294883" "00198" "00414236" "00394" "00427997" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00394 ## Count = 9 "{{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}}" "0000015239" "00394" "00016698" "00713" "Isolated (sporadic)" "" "initial Mg2+ 0.21 mM, FE Mg2+ 4.8%; age onset 9w" "" "" "seizures" "" "" "" "" "" "" "" "" "0000015240" "00394" "00016701" "00713" "Isolated (sporadic)" "" "initial Mg2+ 0.08 mM, FE Mg2+ 2.8%; age onset 3w" "00y01m" "" "seizures" "" "" "" "" "" "" "" "" "0000015241" "00394" "00016705" "00713" "Isolated (sporadic)" "" "initial Mg2+ 0.10 mM, FE Mg2+ 4.0%" "00y04m" "" "seizures" "" "" "" "" "" "" "" "" "0000015242" "00394" "00016707" "00713" "Isolated (sporadic)" "" "initial Mg2+ 0.41 mM, FE Mg2+high; age onset 4w" "00y01m" "" "seizures" "" "" "" "" "" "" "" "" "0000015243" "00394" "00016708" "00713" "Familial, autosomal recessive" "" "initial Mg2+ 0.17 mM, FE Mg2+ 4.5%; age onset 5w" "00y01m" "" "seizures" "" "" "" "" "" "" "" "" "0000015244" "00394" "00016843" "00713" "Familial, autosomal recessive" "" "initial Mg2+ 0.22 mM, FE Mg2+ 2.6%; age onset 5w" "00y01m" "" "seizures" "" "" "" "" "" "" "" "" "0000173792" "00394" "00231400" "02473" "Familial, autosomal recessive" "05y" "hypomagnesemia (HP:0002917), hypocalcaemia (HP:0002901)" "00y01m" "05y" "" "" "" "" "" "" "HSH" "HSH" "" "0000306091" "00394" "00414236" "01164" "Familial, autosomal recessive" "" "Hypomagnesemia, Seizure" "" "" "" "" "" "" "" "" "" "" "" "0000318943" "00198" "00427997" "00006" "Familial, autosomal recessive" "01y" "hypomagnesaemia, seizures, developmental delay" "" "" "" "" "" "" "" "" "HOMG1" "hypomagnesaemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016660" "00016698" "1" "00713" "00713" "2014-05-27 09:47:40" "" "" "PCR" "DNA" "" "" "0000016664" "00016701" "1" "00713" "00713" "2014-05-27 10:02:58" "00006" "2014-05-30 14:17:29" "PCR;SEQ" "DNA" "" "" "0000016666" "00016705" "1" "00713" "00713" "2014-05-27 10:09:23" "00006" "2014-05-30 14:23:17" "PCR;SEQ;SSCA" "DNA" "" "" "0000016669" "00016707" "1" "00713" "00713" "2014-05-27 10:18:59" "00006" "2014-05-30 14:27:11" "PCR;SEQ;SSCA" "DNA" "" "" "0000016670" "00016708" "1" "00713" "00713" "2014-05-27 10:23:12" "00006" "2014-05-30 14:32:24" "PCR;SEQ;SSCA" "DNA" "" "" "0000016810" "00016843" "1" "00713" "00006" "2014-05-30 14:36:03" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000232498" "00231400" "1" "02473" "02473" "2019-05-01 16:04:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000296051" "00294883" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000415516" "00414236" "1" "01164" "01164" "2022-07-28 10:14:42" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000429410" "00427997" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000016660" "TRPM6" "0000016664" "TRPM6" "0000016666" "TRPM6" "0000016669" "TRPM6" "0000016670" "TRPM6" "0000016810" "TRPM6" "0000232498" "TRPM6" "0000415516" "TRPM6" ## 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 = 75 "{{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}}" "0000036529" "3" "95" "9" "77417054" "77417054" "subst" "0" "00713" "TRPM6_000001" "g.77417054G>C" "" "{PMID:Schlingmann 2002:12032568}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74802138G>C" "" "pathogenic" "" "0000036532" "3" "95" "9" "77403529" "77403529" "subst" "0" "00713" "TRPM6_000002" "g.77403529C>T" "" "{PMID:Schlingmann 2002:12032568}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74788613C>T" "" "pathogenic" "" "0000036534" "21" "95" "9" "77378051" "77378051" "subst" "0" "00713" "TRPM6_000003" "g.77378051C>T" "" "{PMID:Schlingmann 2002:12032568}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74763135C>T" "" "pathogenic" "" "0000036536" "11" "95" "9" "77455062" "77455062" "subst" "4.06072E-6" "00713" "TRPM6_000004" "g.77455062G>A" "" "{PMID:Schlingmann 2002:12032568}" "" "" "" "Germline" "yes" "rs121912625" "0" "" "" "g.74840146G>A" "" "pathogenic" "" "0000036538" "0" "95" "9" "77431613" "77431613" "del" "0" "00713" "TRPM6_000006" "g.77431613del" "" "{PMID:Schlingmann 2002:12032568}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74816697del" "" "pathogenic" "" "0000036539" "0" "95" "9" "77377800" "77377812" "del" "0" "00713" "TRPM6_000005" "g.77377800_77377812del" "" "{PMID:Schlingmann 2002:12032568}" "" "3779−91del" "" "Germline" "yes" "" "0" "" "" "g.74762884_74762896del" "" "pathogenic" "" "0000036540" "3" "95" "9" "77415201" "77415201" "del" "0" "00713" "TRPM6_000007" "g.77415201del" "" "{PMID:Schlingmann 2002:12032568}" "" "2207delG (Arg736fsX737)" "" "Germline" "yes" "" "0" "" "" "g.74800285del" "" "pathogenic" "" "0000036707" "3" "95" "9" "77415201" "77415201" "del" "0" "00713" "TRPM6_000007" "g.77415201del" "" "{PMID:Schlingmann 2002:12032568}" "" "2207delG (Arg736fsX737)" "" "Germline" "yes" "" "0" "" "" "g.74800285del" "" "pathogenic" "" "0000248621" "0" "10" "9" "77415284" "77415284" "subst" "0.395949" "02325" "TRPM6_000040" "g.77415284A>C" "" "" "" "TRPM6(NM_017662.5):c.2124T>G (p.L708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74800368A>C" "" "benign" "" "0000251464" "0" "10" "9" "77362839" "77362839" "subst" "0" "02326" "TRPM6_000008" "g.77362839A>G" "" "" "" "TRPM6(NM_017662.5):c.5058-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74747923A>G" "" "benign" "" "0000251465" "0" "10" "9" "77435142" "77435142" "subst" "0" "02326" "TRPM6_000020" "g.77435142A>T" "" "" "" "TRPM6(NM_017662.5):c.1134+78T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74820226A>T" "" "benign" "" "0000251466" "0" "10" "9" "77502188" "77502188" "subst" "0.00268226" "02326" "TRPM6_000025" "g.77502188A>T" "" "" "" "TRPM6(NM_001177311.1):c.-24T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74887272A>T" "" "benign" "" "0000254426" "0" "30" "9" "77448950" "77448950" "subst" "0.0025747" "01943" "TRPM6_000044" "g.77448950A>G" "" "" "" "TRPM6(NM_017662.4):c.633T>C (p.G211=), TRPM6(NM_017662.5):c.633T>C (p.G211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74834034A>G" "" "likely benign" "" "0000312056" "0" "10" "9" "77442616" "77442616" "subst" "0" "02325" "TRPM6_000021" "g.77442616C>T" "" "" "" "TRPM6(NM_017662.5):c.841+78G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74827700C>T" "" "benign" "" "0000314843" "0" "10" "9" "77427075" "77427075" "subst" "0" "02326" "TRPM6_000018" "g.77427075G>A" "" "" "" "TRPM6(NM_017662.5):c.1443+140C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74812159G>A" "" "benign" "" "0000314845" "0" "10" "9" "77418802" "77418802" "subst" "0.00711969" "02326" "TRPM6_000016" "g.77418802G>A" "" "" "" "TRPM6(NM_017662.5):c.1639C>T (p.H547Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74803886G>A" "" "benign" "" "0000314846" "0" "10" "9" "77416755" "77416755" "subst" "0" "02326" "TRPM6_000015" "g.77416755G>C" "" "" "" "TRPM6(NM_017662.5):c.2009+59C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74801839G>C" "" "benign" "" "0000314847" "0" "10" "9" "77415462" "77415462" "subst" "0" "02326" "TRPM6_000014" "g.77415462T>C" "" "" "" "TRPM6(NM_017662.5):c.2010-64A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74800546T>C" "" "benign" "" "0000314850" "0" "10" "9" "77367172" "77367172" "del" "0" "02326" "TRPM6_000009" "g.77367172del" "" "" "" "TRPM6(NM_017662.5):c.4998+30delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74752256del" "" "benign" "" "0000317148" "0" "50" "9" "77427237" "77427237" "subst" "0.000601925" "01943" "TRPM6_000019" "g.77427237C>T" "" "" "" "TRPM6(NM_017662.4):c.1421G>A (p.R474Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74812321C>T" "" "VUS" "" "0000317149" "0" "50" "9" "77411729" "77411729" "subst" "0.00164086" "01943" "TRPM6_000013" "g.77411729C>G" "" "" "" "TRPM6(NM_017662.4):c.2319G>C (p.Q773H), TRPM6(NM_017662.5):c.2319G>C (p.Q773H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74796813C>G" "" "VUS" "" "0000317150" "0" "30" "9" "77390941" "77390941" "subst" "0.000844663" "01943" "TRPM6_000012" "g.77390941G>A" "" "" "" "TRPM6(NM_017662.4):c.3261C>T (p.N1087=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74776025G>A" "" "likely benign" "" "0000317151" "0" "30" "9" "77455094" "77455094" "subst" "0.000641604" "01943" "TRPM6_000024" "g.77455094C>T" "" "" "" "TRPM6(NM_017662.4):c.390G>A (p.E130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74840178C>T" "" "likely benign" "" "0000317152" "0" "30" "9" "77377353" "77377353" "subst" "8.13147E-6" "01943" "TRPM6_000010" "g.77377353G>A" "" "" "" "TRPM6(NM_017662.4):c.4234C>T (p.H1412Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74762437G>A" "" "likely benign" "" "0000317153" "0" "30" "9" "77454973" "77454973" "subst" "0.00237985" "01943" "TRPM6_000023" "g.77454973C>T" "" "" "" "TRPM6(NM_017662.4):c.511G>A (p.G171R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74840057C>T" "" "likely benign" "" "0000317154" "0" "50" "9" "77454969" "77454969" "subst" "1.2184E-5" "01943" "TRPM6_000022" "g.77454969G>A" "" "" "" "TRPM6(NM_017662.4):c.515C>T (p.A172V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74840053G>A" "" "VUS" "" "0000338757" "0" "90" "9" "77378051" "77378051" "subst" "0" "02327" "TRPM6_000003" "g.77378051C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74763135C>T" "" "pathogenic" "" "0000340457" "0" "10" "9" "77407636" "77407636" "subst" "0.249295" "02327" "TRPM6_000038" "g.77407636C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74792720C>T" "" "benign" "" "0000340458" "0" "10" "9" "77415284" "77415284" "subst" "0.395949" "02327" "TRPM6_000040" "g.77415284A>C" "" "" "" "TRPM6(NM_017662.5):c.2124T>G (p.L708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74800368A>C" "" "benign" "" "0000340459" "0" "10" "9" "77436641" "77436641" "subst" "0.37929" "02327" "TRPM6_000042" "g.77436641G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74821725G>A" "" "benign" "" "0000340694" "0" "10" "9" "77376633" "77376633" "subst" "0.0931514" "02327" "TRPM6_000030" "g.77376633A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74761717A>G" "" "benign" "" "0000340995" "0" "10" "9" "77339565" "77339565" "subst" "0.00174841" "02327" "TRPM6_000027" "g.77339565C>T" "" "" "" "TRPM6(NM_017662.5):c.6033G>A (p.T2011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74724649C>T" "" "benign" "" "0000341662" "0" "90" "9" "77397658" "77397658" "subst" "4.06425E-6" "02327" "TRPM6_000036" "g.77397658G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74782742G>A" "" "pathogenic" "" "0000341770" "0" "90" "9" "77386641" "77386641" "subst" "8.13041E-6" "02327" "TRPM6_000035" "g.77386641G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74771725G>A" "" "pathogenic" "" "0000344278" "0" "90" "9" "77377147" "77377147" "subst" "0" "02327" "TRPM6_000032" "g.77377147A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74762231A>T" "" "pathogenic" "" "0000345803" "0" "50" "9" "77454951" "77454951" "subst" "0" "02327" "TRPM6_000043" "g.77454951C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74840035C>A" "" "VUS" "" "0000347430" "0" "10" "9" "77376647" "77376647" "subst" "0.200323" "02327" "TRPM6_000031" "g.77376647T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74761731T>C" "" "benign" "" "0000348590" "0" "50" "9" "77407565" "77407565" "subst" "0" "02327" "TRPM6_000037" "g.77407565G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74792649G>A" "" "VUS" "" "0000348673" "0" "90" "9" "77386625" "77386625" "subst" "0" "02327" "TRPM6_000034" "g.77386625G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74771709G>C" "" "pathogenic" "" "0000349319" "0" "50" "9" "77357506" "77357506" "subst" "0.00098815" "02327" "TRPM6_000029" "g.77357506G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74742590G>A" "" "VUS" "" "0000350288" "0" "10" "9" "77377410" "77377410" "subst" "0.118234" "02327" "TRPM6_000033" "g.77377410C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74762494C>T" "" "benign" "" "0000351373" "0" "90" "9" "77407687" "77407687" "subst" "4.07408E-6" "02327" "TRPM6_000039" "g.77407687C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74792771C>A" "" "pathogenic" "" "0000474915" "3" "90" "9" "77390910" "77390910" "subst" "0" "02473" "TRPM6_000045" "g.77390910T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.74775994T>C" "" "pathogenic (recessive)" "" "0000538476" "0" "10" "9" "77386858" "77386859" "dup" "0" "02326" "TRPM6_000046" "g.77386858_77386859dup" "" "" "" "TRPM6(NM_017662.5):c.3404-108_3404-107dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74771942_74771943dup" "" "benign" "" "0000538477" "0" "50" "9" "77400938" "77400938" "subst" "2.43679E-5" "01943" "TRPM6_000047" "g.77400938C>G" "" "" "" "TRPM6(NM_017662.4):c.2771G>C (p.G924A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74786022C>G" "" "VUS" "" "0000538478" "0" "10" "9" "77418972" "77418973" "ins" "0" "02326" "TRPM6_000048" "g.77418972_77418973insA" "" "" "" "TRPM6(NM_017662.5):c.1639-171_1639-170insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74804056_74804057insA" "" "benign" "" "0000538479" "0" "90" "9" "77427277" "77427277" "subst" "0" "02327" "TRPM6_000049" "g.77427277C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74812361C>A" "" "pathogenic" "" "0000538480" "0" "50" "9" "77457134" "77457134" "subst" "0" "02327" "TRPM6_000050" "g.77457134T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74842218T>C" "" "VUS" "" "0000538481" "0" "90" "9" "77457209" "77457209" "subst" "0" "01943" "TRPM6_000051" "g.77457209C>T" "" "" "" "TRPM6(NM_017662.4):c.203G>A (p.W68*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74842293C>T" "" "pathogenic" "" "0000538482" "0" "30" "9" "77470476" "77470476" "subst" "4.06511E-6" "01943" "TRPM6_000052" "g.77470476G>A" "" "" "" "TRPM6(NM_017662.4):c.119C>T (p.T40I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74855560G>A" "" "likely benign" "" "0000538483" "0" "10" "9" "77502394" "77502395" "dup" "0" "02326" "TRPM6_000053" "g.77502394_77502395dup" "" "" "" "TRPM6(NM_017662.5):c.33+345_33+346dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74887478_74887479dup" "" "benign" "" "0000652740" "1" "50" "9" "77357506" "77357506" "subst" "0.00098815" "03575" "TRPM6_000029" "g.77357506G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs56290308}" "Germline" "" "rs56290308" "0" "" "" "g.74742590G>A" "" "VUS" "" "0000690582" "0" "30" "9" "77376952" "77376952" "subst" "5.69305E-5" "01943" "TRPM6_000055" "g.77376952A>T" "" "" "" "TRPM6(NM_017662.4):c.4635T>A (p.H1545Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690583" "0" "30" "9" "77435340" "77435340" "subst" "0.00180519" "01943" "TRPM6_000056" "g.77435340C>A" "" "" "" "TRPM6(NM_017662.4):c.1014G>T (p.M338I), TRPM6(NM_017662.5):c.1014G>T (p.M338I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722565" "0" "30" "9" "77377861" "77377861" "subst" "0.000131756" "01943" "TRPM6_000057" "g.77377861C>T" "" "" "" "TRPM6(NM_017662.4):c.3726G>A (p.K1242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722566" "0" "30" "9" "77422957" "77422957" "subst" "1.62546E-5" "01943" "TRPM6_000058" "g.77422957T>C" "" "" "" "TRPM6(NM_017662.4):c.1631A>G (p.K544R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722567" "0" "30" "9" "77448950" "77448950" "subst" "0.0025747" "02326" "TRPM6_000044" "g.77448950A>G" "" "" "" "TRPM6(NM_017662.4):c.633T>C (p.G211=), TRPM6(NM_017662.5):c.633T>C (p.G211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804192" "0" "50" "9" "77377752" "77377752" "subst" "0" "01943" "TRPM6_000059" "g.77377752G>A" "" "" "" "TRPM6(NM_017662.4):c.3835C>T (p.P1279S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804193" "0" "50" "9" "77415167" "77415167" "subst" "4.06392E-6" "01943" "TRPM6_000060" "g.77415167T>C" "" "" "" "TRPM6(NM_017662.4):c.2238+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804194" "0" "30" "9" "77416900" "77416900" "subst" "8.53846E-5" "01943" "TRPM6_000061" "g.77416900C>T" "" "" "" "TRPM6(NM_017662.4):c.1923G>A (p.A641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852315" "0" "30" "9" "77377724" "77377724" "subst" "0.000483763" "02326" "TRPM6_000062" "g.77377724C>T" "" "" "" "TRPM6(NM_017662.5):c.3863G>A (p.G1288E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861736" "0" "10" "9" "77339565" "77339565" "subst" "0.00174841" "02326" "TRPM6_000027" "g.77339565C>T" "" "" "" "TRPM6(NM_017662.5):c.6033G>A (p.T2011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861737" "0" "30" "9" "77391002" "77391002" "subst" "4.06124E-6" "02326" "TRPM6_000063" "g.77391002G>T" "" "" "" "TRPM6(NM_017662.5):c.3210-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873314" "3" "90" "9" "77397329" "77397329" "subst" "0" "01164" "TRPM6_000064" "g.77397329T>C" "" "{PMID:[Lainez]:[23942199]},{PMID:[Bayramoğlu]:[33565749]}" "" "" "ACMG: PP1_STR, PS4_MOD, PM3, PS3_SUP, PM2_SUP, PP3" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000888898" "0" "30" "9" "77354303" "77354303" "subst" "0.000873189" "02326" "TRPM6_000065" "g.77354303T>C" "" "" "" "TRPM6(NM_017662.5):c.5550A>G (p.Q1850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888899" "0" "30" "9" "77407650" "77407650" "subst" "0.00259238" "02326" "TRPM6_000066" "g.77407650G>A" "" "" "" "TRPM6(NM_017662.5):c.2428C>T (p.L810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908883" "1" "90" "9" "77431578" "77431578" "subst" "0" "00006" "TRPM6_000068" "g.77431578A>C" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Somatic" "" "" "0" "" "" "g.74816662A>C" "" "pathogenic (recessive)" "" "0000908937" "2" "90" "9" "77376687" "77376687" "subst" "0" "00006" "TRPM6_000067" "g.77376687C>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.74761771C>T" "" "pathogenic (recessive)" "" "0000929623" "0" "30" "9" "77377766" "77377766" "subst" "0.00188023" "02326" "TRPM6_000069" "g.77377766T>C" "" "" "" "TRPM6(NM_017662.5):c.3821A>G (p.Q1274R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929624" "0" "30" "9" "77435340" "77435340" "subst" "0.00180519" "02326" "TRPM6_000056" "g.77435340C>A" "" "" "" "TRPM6(NM_017662.4):c.1014G>T (p.M338I), TRPM6(NM_017662.5):c.1014G>T (p.M338I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965502" "0" "30" "9" "77473573" "77473573" "subst" "0.000610086" "02326" "TRPM6_000071" "g.77473573T>G" "" "" "" "TRPM6(NM_017662.5):c.113+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997959" "0" "30" "9" "77418794" "77418794" "subst" "0.000142227" "02326" "TRPM6_000072" "g.77418794T>C" "" "" "" "TRPM6(NM_017662.5):c.1647A>G (p.R549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014564" "0" "10" "9" "77386641" "77386641" "subst" "0.0034351" "02326" "TRPM6_000073" "g.77386641G>T" "" "" "" "TRPM6(NM_017662.5):c.3514C>A (p.R1172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046209" "0" "30" "9" "77411729" "77411729" "subst" "0.00164086" "02326" "TRPM6_000013" "g.77411729C>G" "" "" "" "TRPM6(NM_017662.4):c.2319G>C (p.Q773H), TRPM6(NM_017662.5):c.2319G>C (p.Q773H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046210" "0" "70" "9" "77442693" "77442693" "subst" "0" "02326" "TRPM6_000074" "g.77442693C>G" "" "" "" "TRPM6(NM_017662.5):c.841+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 TRPM6 ## Count = 75 "{{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}}" "0000036529" "00021911" "95" "1769" "0" "1769" "0" "c.1769C>G" "r.(?)" "p.(Ser590*)" "16" "0000036532" "00021911" "95" "2667" "1" "2667" "1" "c.2667+1G>A" "r.spl?" "p.?" "20i" "0000036534" "00021911" "95" "3537" "-1" "3537" "-1" "c.3537-1G>A" "r.spl?" "p.?" "25i" "0000036536" "00021911" "95" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Ser141Leu)" "5" "0000036538" "00021911" "95" "1280" "0" "1280" "0" "c.1280del" "r.(?)" "p.(His427Leufs*3)" "11" "0000036539" "00021911" "95" "3779" "0" "3791" "0" "c.3779_3791del" "r.(?)" "p.(Glu1260Alafs*20)" "26" "0000036540" "00021911" "95" "2208" "0" "2208" "0" "c.2208del" "r.(?)" "p.(Arg736Serfs*2)" "17" "0000036707" "00021911" "95" "2208" "0" "2208" "0" "c.2208del" "r.(?)" "p.(Arg736Serfs*2)" "17" "0000248621" "00021911" "10" "2124" "0" "2124" "0" "c.2124T>G" "r.(?)" "p.(Leu708=)" "" "0000251464" "00021911" "10" "5058" "-9" "5058" "-9" "c.5058-9T>C" "r.(=)" "p.(=)" "" "0000251465" "00021911" "10" "1134" "78" "1134" "78" "c.1134+78T>A" "r.(=)" "p.(=)" "" "0000251466" "00021911" "10" "33" "552" "33" "552" "c.33+552T>A" "r.(=)" "p.(=)" "" "0000254426" "00021911" "30" "633" "0" "633" "0" "c.633T>C" "r.(?)" "p.(Gly211=)" "" "0000312056" "00021911" "10" "841" "78" "841" "78" "c.841+78G>A" "r.(=)" "p.(=)" "" "0000314843" "00021911" "10" "1443" "140" "1443" "140" "c.1443+140C>T" "r.(=)" "p.(=)" "" "0000314845" "00021911" "10" "1639" "0" "1639" "0" "c.1639C>T" "r.(?)" "p.(His547Tyr)" "" "0000314846" "00021911" "10" "2009" "59" "2009" "59" "c.2009+59C>G" "r.(=)" "p.(=)" "" "0000314847" "00021911" "10" "2010" "-64" "2010" "-64" "c.2010-64A>G" "r.(=)" "p.(=)" "" "0000314850" "00021911" "10" "4998" "30" "4998" "30" "c.4998+30del" "r.(=)" "p.(=)" "" "0000317148" "00021911" "50" "1421" "0" "1421" "0" "c.1421G>A" "r.(?)" "p.(Arg474Gln)" "" "0000317149" "00021911" "50" "2319" "0" "2319" "0" "c.2319G>C" "r.(?)" "p.(Gln773His)" "" "0000317150" "00021911" "30" "3261" "0" "3261" "0" "c.3261C>T" "r.(?)" "p.(Asn1087=)" "" "0000317151" "00021911" "30" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Glu130=)" "" "0000317152" "00021911" "30" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(His1412Tyr)" "" "0000317153" "00021911" "30" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Gly171Arg)" "" "0000317154" "00021911" "50" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Ala172Val)" "" "0000338757" "00021911" "90" "3537" "-1" "3537" "-1" "c.3537-1G>A" "r.spl?" "p.?" "" "0000340457" "00021911" "10" "2442" "0" "2442" "0" "c.2442G>A" "r.(?)" "p.(Gln814=)" "" "0000340458" "00021911" "10" "2124" "0" "2124" "0" "c.2124T>G" "r.(?)" "p.(Leu708=)" "" "0000340459" "00021911" "10" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Gly318=)" "" "0000340694" "00021911" "10" "4764" "0" "4764" "0" "c.4764T>C" "r.(?)" "p.(Asn1588=)" "" "0000340995" "00021911" "10" "6033" "0" "6033" "0" "c.6033G>A" "r.(?)" "p.(Thr2011=)" "" "0000341662" "00021911" "90" "3031" "0" "3031" "0" "c.3031C>T" "r.(?)" "p.(Arg1011Ter)" "" "0000341770" "00021911" "90" "3514" "0" "3514" "0" "c.3514C>T" "r.(?)" "p.(Arg1172Ter)" "" "0000344278" "00021911" "90" "4440" "0" "4440" "0" "c.4440T>A" "r.(?)" "p.(Cys1480Ter)" "" "0000345803" "00021911" "50" "533" "0" "533" "0" "c.533G>T" "r.(?)" "p.(Gly178Val)" "" "0000347430" "00021911" "10" "4750" "0" "4750" "0" "c.4750A>G" "r.(?)" "p.(Lys1584Glu)" "" "0000348590" "00021911" "50" "2513" "0" "2513" "0" "c.2513C>T" "r.(?)" "p.(Pro838Leu)" "" "0000348673" "00021911" "90" "3530" "0" "3530" "0" "c.3530C>G" "r.(?)" "p.(Ser1177Ter)" "" "0000349319" "00021911" "50" "5171" "0" "5171" "0" "c.5171C>T" "r.(?)" "p.(Thr1724Ile)" "" "0000350288" "00021911" "10" "4177" "0" "4177" "0" "c.4177G>A" "r.(?)" "p.(Val1393Ile)" "" "0000351373" "00021911" "90" "2392" "-1" "2392" "-1" "c.2392-1G>T" "r.spl?" "p.?" "" "0000474915" "00021911" "90" "3292" "0" "3292" "0" "c.3292A>G" "r.3292a>g" "p.Lys1098Glu" "" "0000538476" "00021911" "10" "3404" "-108" "3404" "-107" "c.3404-108_3404-107dup" "r.(=)" "p.(=)" "" "0000538477" "00021911" "50" "2771" "0" "2771" "0" "c.2771G>C" "r.(?)" "p.(Gly924Ala)" "" "0000538478" "00021911" "10" "1639" "-171" "1639" "-170" "c.1639-171_1639-170insT" "r.(=)" "p.(=)" "" "0000538479" "00021911" "90" "1381" "0" "1381" "0" "c.1381G>T" "r.(?)" "p.(Glu461Ter)" "" "0000538480" "00021911" "50" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Asp93Gly)" "" "0000538481" "00021911" "90" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Trp68Ter)" "" "0000538482" "00021911" "30" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Thr40Ile)" "" "0000538483" "00021911" "10" "33" "345" "33" "346" "c.33+345_33+346dup" "r.(=)" "p.(=)" "" "0000652740" "00021911" "50" "5171" "0" "5171" "0" "c.5171C>T" "r.(?)" "p.(Thr1724Ile)" "" "0000690582" "00021911" "30" "4635" "0" "4635" "0" "c.4635T>A" "r.(?)" "p.(His1545Gln)" "" "0000690583" "00021911" "30" "1014" "0" "1014" "0" "c.1014G>T" "r.(?)" "p.(Met338Ile)" "" "0000722565" "00021911" "30" "3726" "0" "3726" "0" "c.3726G>A" "r.(?)" "p.(Lys1242=)" "" "0000722566" "00021911" "30" "1631" "0" "1631" "0" "c.1631A>G" "r.(?)" "p.(Lys544Arg)" "" "0000722567" "00021911" "30" "633" "0" "633" "0" "c.633T>C" "r.(?)" "p.(Gly211=)" "" "0000804192" "00021911" "50" "3835" "0" "3835" "0" "c.3835C>T" "r.(?)" "p.(Pro1279Ser)" "" "0000804193" "00021911" "50" "2238" "3" "2238" "3" "c.2238+3A>G" "r.spl?" "p.?" "" "0000804194" "00021911" "30" "1923" "0" "1923" "0" "c.1923G>A" "r.(?)" "p.(Ala641=)" "" "0000852315" "00021911" "30" "3863" "0" "3863" "0" "c.3863G>A" "r.(?)" "p.(Gly1288Glu)" "" "0000861736" "00021911" "10" "6033" "0" "6033" "0" "c.6033G>A" "r.(?)" "p.(Thr2011=)" "" "0000861737" "00021911" "30" "3210" "-10" "3210" "-10" "c.3210-10C>A" "r.(=)" "p.(=)" "" "0000873314" "00021911" "90" "3158" "0" "3158" "0" "c.3158A>G" "r.(?)" "p.(Tyr1053Cys)" "" "0000888898" "00021911" "30" "5550" "0" "5550" "0" "c.5550A>G" "r.(?)" "p.(Gln1850=)" "" "0000888899" "00021911" "30" "2428" "0" "2428" "0" "c.2428C>T" "r.(?)" "p.(Leu810=)" "" "0000908883" "00021911" "90" "1308" "7" "1308" "7" "c.1308+7T>G" "r.1208_1308del" "p.Gly403Alafs*2" "" "0000908937" "00021911" "90" "4710" "0" "4710" "0" "c.4710G>A" "r.4710g>a" "p.Tro1570*" "" "0000929623" "00021911" "30" "3821" "0" "3821" "0" "c.3821A>G" "r.(?)" "p.(Gln1274Arg)" "" "0000929624" "00021911" "30" "1014" "0" "1014" "0" "c.1014G>T" "r.(?)" "p.(Met338Ile)" "" "0000965502" "00021911" "30" "113" "12" "113" "12" "c.113+12A>C" "r.(=)" "p.(=)" "" "0000997959" "00021911" "30" "1647" "0" "1647" "0" "c.1647A>G" "r.(?)" "p.(=)" "" "0001014564" "00021911" "10" "3514" "0" "3514" "0" "c.3514C>A" "r.(?)" "p.(=)" "" "0001046209" "00021911" "30" "2319" "0" "2319" "0" "c.2319G>C" "r.(?)" "p.(Gln773His)" "" "0001046210" "00021911" "70" "841" "1" "841" "1" "c.841+1G>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000016660" "0000036529" "0000016664" "0000036532" "0000016666" "0000036534" "0000016666" "0000036536" "0000016669" "0000036538" "0000016669" "0000036539" "0000016670" "0000036540" "0000016810" "0000036707" "0000232498" "0000474915" "0000296051" "0000652740" "0000415516" "0000873314" "0000429410" "0000908883" "0000429410" "0000908937"