### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PFKM) # 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}}" "PFKM" "phosphofructokinase, muscle" "12" "q13.11" "unknown" "NC_000012.11" "UD_132118577799" "" "https://www.LOVD.nl/PFKM" "" "1" "8877" "5213" "610681" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PFKM_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-02-06 11:44:40" "00006" "2026-05-04 13:34:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00016012" "PFKM" "transcript variant 4" "002" "NM_000289.5" "" "NP_000280.1" "" "" "" "-185" "3039" "2343" "48513013" "48540187" "" "0000-00-00 00:00:00" "" "" "00025559" "PFKM" "transcript variant 1" "001" "NM_001166686.1" "" "NP_001160158.1" "" "" "" "-274" "3252" "2556" "48499656" "48540187" "00006" "2020-10-11 11:48:52" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01827" "GSD7" "storage disease, glycogen, type VII (GSD-7)" "AR" "232800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PFKM" "01827" "PFKM" "04216" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00290712" "" "" "" "29" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290713" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296851" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00306991" "" "" "" "1" "" "03743" "" "" "" "" "" "" "0" "" "" "" "" "00314387" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00466393" "" "" "" "2" "" "04653" "Pending" "" "F" "" "France" "" "0" "" "" "" "" "00478130" "" "" "" "1" "" "00006" "{PMID:Sambuughin 2024:39457051}" "analysis 53 cases with exertional heat illness events" "M" "" "United States" "" "0" "" "" "" "HP014" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00290712" "00198" "00290713" "00198" "00296851" "00198" "00306991" "01827" "00314387" "05126" "00466393" "01827" "00478130" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01827, 04216, 05126 ## Count = 4 "{{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}}" "0000224248" "00198" "00296851" "01164" "Unknown" "" "Exercise-induced myalgia (HP:0003738)" "" "" "" "" "" "" "" "" "" "" "" "0000232809" "01827" "00306991" "03743" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351757" "01827" "00466393" "04653" "Familial, autosomal recessive" "" "Rhabdomyolysis" "" "" "" "" "" "" "" "" "GSD7" "Recurrent rhabdomyolysis" "" "0000362731" "00198" "00478130" "00006" "Unknown" "26y" "see paper; ..., two exertional heat illness events; peak core temperature 40.6" "" "" "" "" "" "" "" "" "" "exertional heat illness events" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291880" "00290712" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291881" "00290713" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297961" "00296851" "1" "01164" "01164" "2020-04-14 14:13:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000308128" "00306991" "1" "03743" "03743" "2020-07-27 02:50:39" "" "" "?" "DNA" "" "" "0000315560" "00314387" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468056" "00466393" "1" "04653" "04653" "2025-08-27 10:37:55" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000479777" "00478130" "1" "00006" "00006" "2026-05-04 13:34:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000308128" "PFKM" "0000315560" "PFKM" ## 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 = 28 "{{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}}" "0000248773" "0" "10" "12" "48501161" "48501161" "subst" "0.280957" "02325" "PFKM_000005" "g.48501161A>T" "" "" "" "PFKM(NM_001166686.2):c.5A>T (p.H2L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48107378A>T" "" "benign" "" "0000296929" "0" "10" "12" "48512285" "48512285" "subst" "0.850994" "02325" "PFKM_000001" "g.48512285C>A" "" "" "" "PFKM(NM_001166686.2):c.206-4265C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48118502C>A" "" "benign" "" "0000296930" "0" "10" "12" "48539482" "48539482" "subst" "0.317795" "02325" "PFKM_000004" "g.48539482T>G" "" "" "" "PFKM(NM_001166686.2):c.2547T>G (p.A849=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48145699T>G" "" "benign" "" "0000300729" "0" "10" "12" "48526712" "48526712" "subst" "0.177712" "02326" "PFKM_000003" "g.48526712G>A" "" "" "" "PFKM(NM_001166686.2):c.512G>A (p.R171Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48132929G>A" "" "benign" "" "0000548231" "0" "30" "12" "48460754" "48460755" "del" "0" "01804" "SENP1_000001" "g.48460754_48460755del" "" "" "" "SENP1(NM_001267594.1):c.996-6_996-5del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48066971_48066972del" "" "likely benign" "" "0000548234" "0" "50" "12" "48539352" "48539352" "subst" "0" "01943" "ASB8_000001" "g.48539352G>A" "" "" "" "PFKM(NM_001166686.2):c.2417G>A (p.R806Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48145569G>A" "" "VUS" "" "0000648569" "1" "30" "12" "48526719" "48526719" "subst" "0.019751" "03575" "PFKM_000008" "g.48526719C>T" "29/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "29 heterozygous, no homozygous; {DB:CLININrs11552507}" "Germline" "" "rs11552507" "0" "" "" "g.48132936C>T" "" "likely benign" "" "0000648570" "1" "50" "12" "48538908" "48538908" "subst" "0.00970405" "03575" "PFKM_000009" "g.48538908G>A" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; {DB:CLININrs41291971}" "Germline" "" "rs41291971" "0" "" "" "g.48145125G>A" "" "VUS" "" "0000660668" "0" "70" "12" "48526711" "48526711" "subst" "1.62588E-5" "01164" "PFKM_000010" "g.48526711C>T" "" "" "" "" "no second variant detected in PFKM" "Germline" "" "rs374547385" "0" "" "" "g.48132928C>T" "" "likely pathogenic" "" "0000674968" "3" "70" "12" "48529165" "48529165" "subst" "0" "03743" "PFKM_000011" "g.48529165T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48135382T>C" "" "VUS" "" "0000679536" "0" "50" "12" "48527131" "48527131" "subst" "1.2192E-5" "01943" "PFKM_000012" "g.48527131G>C" "" "" "" "PFKM(NM_001354736.1):c.770G>C (p.S257T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697649" "0" "70" "12" "48501979" "48501979" "subst" "0" "00006" "PFKM_000014" "g.48501979T>C" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.48108196T>C" "" "likely pathogenic" "" "0000724061" "0" "50" "12" "48516553" "48516553" "subst" "4.06256E-6" "02329" "PFKM_000006" "g.48516553G>A" "" "" "" "PFKM(NM_001166686.2):c.209G>A (p.W70*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724062" "0" "90" "12" "48525177" "48525177" "subst" "0.000125935" "02329" "PFKM_000002" "g.48525177G>A" "" "" "" "PFKM(NM_001166686.2):c.450+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724063" "0" "50" "12" "48533109" "48533109" "subst" "4.06237E-5" "02329" "PFKM_000007" "g.48533109C>T" "" "" "" "PFKM(NM_001166686.2):c.1317C>T (p.D439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862995" "0" "10" "12" "48539482" "48539482" "subst" "0.317795" "02327" "PFKM_000004" "g.48539482T>G" "" "" "" "PFKM(NM_001166686.2):c.2547T>G (p.A849=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890580" "0" "30" "12" "48534651" "48534651" "subst" "0.0021173" "02326" "PFKM_000015" "g.48534651G>A" "" "" "" "PFKM(NM_000289.6):c.1338G>A (p.G446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890581" "0" "30" "12" "48534652" "48534652" "subst" "0.00211716" "02326" "PFKM_000016" "g.48534652C>A" "" "" "" "PFKM(NM_000289.6):c.1339C>A (p.Q447K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890582" "0" "30" "12" "48539335" "48539335" "subst" "0.00188112" "02326" "ASB8_000002" "g.48539335A>G" "" "" "" "PFKM(NM_000289.6):c.2199-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949959" "0" "50" "12" "48524176" "48524176" "subst" "2.43643E-5" "02329" "PFKM_000017" "g.48524176G>A" "" "" "" "PFKM(NM_001354736.1):c.425G>A (p.R142Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980281" "0" "30" "12" "48526634" "48526634" "subst" "7.99538E-5" "02326" "PFKM_000018" "g.48526634T>A" "" "" "" "PFKM(NM_000289.6):c.238-17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000062" "0" "50" "12" "48545060" "48545060" "subst" "0" "01804" "ASB8_000003" "g.48545060G>A" "" "" "" "ASB8(NM_024095.3):c.158C>T (p.(Thr53Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016621" "0" "90" "12" "48531630" "48531630" "subst" "1.21859E-5" "03779" "PFKM_000019" "g.48531630G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs766042700" "0" "" "" "" "" "pathogenic" "" "0001047523" "3" "50" "12" "48533218" "48533218" "subst" "0" "04653" "PFKM_000020" "g.48533218A>G" "" "Pending" "" "" "" "Germline" "yes" "" "0" "" "" "g.48139435A>G" "" "VUS" "ACMG" "0001054300" "0" "50" "12" "48536638" "48536638" "subst" "0.00018274" "01804" "ASB8_000004" "g.48536638A>T" "" "" "" "PFKM(NM_000289.6):c.1727A>T (p.(Tyr576Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054301" "0" "50" "12" "48539337" "48539337" "subst" "4.06279E-6" "01804" "ASB8_000005" "g.48539337T>C" "" "" "" "PFKM(NM_000289.6):c.2199-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065728" "0" "70" "12" "48528601" "48528601" "subst" "4.06081E-6" "01804" "PFKM_000021" "g.48528601C>T" "" "" "" "PFKM(NM_000289.6):c.736C>T (p.(Arg246*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001075768" "0" "90" "12" "48528601" "48528601" "subst" "4.06081E-6" "00006" "PFKM_000021" "g.48528601C>T" "" "{PMID:Sambuughin 2024:39457051}" "" "NM_001166687.2:c.736C>T" "" "Germline/De novo (untested)" "" "rs866904446" "0" "" "" "g.48134818C>T" "" "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 PFKM ## Count = 49 "{{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}}" "0000248773" "00016012" "10" "-12037" "0" "-12037" "0" "c.-12037A>T" "r.(?)" "p.(=)" "" "0000248773" "00025559" "10" "5" "0" "5" "0" "c.5A>T" "r.(?)" "p.(His2Leu)" "" "0000296929" "00016012" "10" "-913" "0" "-913" "0" "c.-913C>A" "r.(?)" "p.(=)" "" "0000296929" "00025559" "10" "206" "-4265" "206" "-4265" "c.206-4265C>A" "r.(=)" "p.(=)" "" "0000296930" "00016012" "10" "2334" "0" "2334" "0" "c.2334T>G" "r.(?)" "p.(Ala778=)" "" "0000296930" "00025559" "10" "2547" "0" "2547" "0" "c.2547T>G" "r.(?)" "p.(Ala849=)" "" "0000300729" "00016012" "10" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100Gln)" "" "0000300729" "00025559" "10" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Arg171Gln)" "" "0000548231" "00025559" "30" "-39176" "0" "-39175" "0" "c.-39176_-39175del" "r.(?)" "p.(=)" "" "0000548234" "00016012" "50" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Arg735Gln)" "" "0000548234" "00025559" "50" "2417" "0" "2417" "0" "c.2417G>A" "r.(?)" "p.(Arg806Gln)" "" "0000648569" "00016012" "30" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Ala102=)" "" "0000648569" "00025559" "30" "519" "0" "519" "0" "c.519C>T" "r.(=)" "p.(=)" "" "0000648570" "00016012" "50" "2087" "0" "2087" "0" "c.2087G>A" "r.(?)" "p.(Arg696His)" "" "0000648570" "00025559" "50" "2300" "0" "2300" "0" "c.2300G>A" "r.(?)" "p.(Arg767His)" "" "0000660668" "00016012" "70" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Arg100*)" "" "0000674968" "00016012" "70" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Leu312Pro)" "" "0000679536" "00016012" "50" "461" "0" "461" "0" "c.461G>C" "r.(?)" "p.(Ser154Thr)" "" "0000679536" "00025559" "50" "674" "0" "674" "0" "c.674G>C" "r.(?)" "p.(Ser225Thr)" "" "0000697649" "00025559" "70" "205" "2" "205" "2" "c.205+2T>C" "r.spl" "p.?" "" "0000724061" "00016012" "50" "-5" "0" "-5" "0" "c.-5G>A" "r.(?)" "p.(=)" "" "0000724061" "00025559" "50" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Trp70Ter)" "" "0000724062" "00016012" "90" "237" "1" "237" "1" "c.237+1G>A" "r.spl?" "p.?" "" "0000724062" "00025559" "90" "450" "1" "450" "1" "c.450+1G>A" "r.spl?" "p.?" "" "0000724063" "00016012" "50" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Asp368=)" "" "0000724063" "00025559" "50" "1317" "0" "1317" "0" "c.1317C>T" "r.(?)" "p.(Asp439=)" "" "0000862995" "00016012" "10" "2334" "0" "2334" "0" "c.2334T>G" "r.(?)" "p.(Ala778=)" "" "0000862995" "00025559" "10" "2547" "0" "2547" "0" "c.2547T>G" "r.(?)" "p.(Ala849=)" "" "0000890580" "00016012" "30" "1338" "0" "1338" "0" "c.1338G>A" "r.(?)" "p.(Gly446=)" "" "0000890580" "00025559" "30" "1551" "0" "1551" "0" "c.1551G>A" "r.(?)" "p.(Gly517=)" "" "0000890581" "00016012" "30" "1339" "0" "1339" "0" "c.1339C>A" "r.(?)" "p.(Gln447Lys)" "" "0000890581" "00025559" "30" "1552" "0" "1552" "0" "c.1552C>A" "r.(?)" "p.(Gln518Lys)" "" "0000890582" "00016012" "30" "2199" "-12" "2199" "-12" "c.2199-12A>G" "r.(=)" "p.(=)" "" "0000890582" "00025559" "30" "2412" "-12" "2412" "-12" "c.2412-12A>G" "r.(=)" "p.(=)" "" "0000949959" "00016012" "50" "116" "0" "116" "0" "c.116G>A" "r.(?)" "p.(Arg39Gln)" "" "0000949959" "00025559" "50" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110Gln)" "" "0000980281" "00016012" "30" "238" "-17" "238" "-17" "c.238-17T>A" "r.(=)" "p.(=)" "" "0000980281" "00025559" "30" "451" "-17" "451" "-17" "c.451-17T>A" "r.(=)" "p.(=)" "" "0001000062" "00016012" "50" "7912" "0" "7912" "0" "c.*5569G>A" "r.(=)" "p.(=)" "" "0001000062" "00025559" "50" "8125" "0" "8125" "0" "c.*5569G>A" "r.(=)" "p.(=)" "" "0001016621" "00016012" "90" "1062" "1" "1062" "1" "c.1062+1G>A" "r.(?)" "p.(?)" "" "0001047523" "00016012" "50" "1127" "86" "1127" "86" "c.1127+86A>G" "r.(?)" "p.(?)" "" "0001054300" "00016012" "50" "1727" "0" "1727" "0" "c.1727A>T" "r.(?)" "p.(Tyr576Phe)" "" "0001054300" "00025559" "50" "1940" "0" "1940" "0" "c.1940A>T" "r.(?)" "p.(Tyr647Phe)" "" "0001054301" "00016012" "50" "2199" "-10" "2199" "-10" "c.2199-10T>C" "r.(=)" "p.(=)" "" "0001054301" "00025559" "50" "2412" "-10" "2412" "-10" "c.2412-10T>C" "r.(=)" "p.(=)" "" "0001065728" "00016012" "70" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246*)" "" "0001065728" "00025559" "70" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Arg317*)" "" "0001075768" "00016012" "90" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000291880" "0000648569" "0000291881" "0000648570" "0000297961" "0000660668" "0000308128" "0000674968" "0000315560" "0000697649" "0000468056" "0001047523" "0000479777" "0001075768"