### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MCM2) # 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}}" "MCM2" "minichromosome maintenance complex component 2" "3" "q21" "unknown" "NG_050771.1" "UD_132612393722" "" "https://www.LOVD.nl/MCM2" "" "1" "6944" "4171" "116945" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-04-03 16:15:55" "00000" "2024-08-28 13:16:32" ## 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}}" "00011905" "MCM2" "minichromosome maintenance complex component 2" "001" "NM_004526.2" "" "NP_004517.2" "" "" "" "-57" "3378" "2715" "127317253" "127341279" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "06560" "DFNA70" "?Deafness, autosomal dominant 70" "AD" "616968" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MCM2" "06560" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00228899" "" "" "" "1" "" "03243" "" "" "" "no" "Italy" "" "0" "" "" "" "" "00282362" "" "" "" "1" "" "00004" "{PMID:Gao 2015:26196677}" "" "" "" "" "" "0" "" "" "" "" "00293197" "" "" "" "40" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304921" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327031" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB280-552" "00327038" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB473-918" "00430986" "" "" "" "1" "" "00006" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}" "" "M" "" "Netherlands" "" "0" "" "" "Turkey" "PatN" "00441520" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "5784" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00228899" "00138" "00282362" "05103" "00293197" "00198" "00304921" "00198" "00327031" "05086" "00327038" "05086" "00430986" "04214" "00441520" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 04214, 05086, 05103, 06560 ## 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}}" "0000172851" "00138" "00228899" "03243" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000218403" "05103" "00282362" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 70" "deafness, autosomal dominant, non-syndromic" "" "0000321595" "04214" "00430986" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 46y-peripheral vision loss, night blindness" "" "" "" "" "" "" "" "" "USH4" "" "" "0000330958" "05086" "00441520" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000229990" "00228899" "1" "03243" "03243" "2019-03-27 15:03:38" "" "" "arraySEQ" "DNA" "" "" "0000283512" "00282362" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000294365" "00293197" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306050" "00304921" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328245" "00327031" "1" "03611" "03611" "2021-01-19 04:16:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000328252" "00327038" "1" "03611" "03611" "2021-01-19 04:31:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000432397" "00430986" "1" "00006" "00006" "2023-01-25 13:23:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES gene panel" "0000443006" "00441520" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000229990" "MCM2" "0000229990" "TMEM135" "0000229990" "TRAK2" "0000229990" "UBA1" "0000283512" "MCM2" ## 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 = 34 "{{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}}" "0000471338" "0" "30" "3" "127323612" "127323612" "subst" "0.000204561" "03243" "MCM2_000001" "g.127323612G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.127604769G>A" "" "VUS" "" "0000517756" "0" "50" "3" "127323567" "127323567" "subst" "0.000178073" "02327" "MCM2_000002" "g.127323567G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127604724G>A" "" "VUS" "" "0000517757" "0" "50" "3" "127323772" "127323772" "subst" "8.61383E-5" "01943" "MCM2_000003" "g.127323772G>A" "" "" "" "MCM2(NM_004526.3):c.446G>A (p.R149H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127604929G>A" "" "VUS" "" "0000517758" "0" "30" "3" "127323791" "127323791" "subst" "0" "01943" "MCM2_000004" "g.127323791G>A" "" "" "" "MCM2(NM_004526.3):c.465G>A (p.E155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127604948G>A" "" "likely benign" "" "0000517759" "0" "10" "3" "127323806" "127323806" "subst" "0.00127702" "01943" "MCM2_000005" "g.127323806C>T" "" "" "" "MCM2(NM_004526.3):c.480C>T (p.D160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127604963C>T" "" "benign" "" "0000517760" "0" "30" "3" "127325046" "127325046" "subst" "0.0026885" "01943" "MCM2_000006" "g.127325046G>A" "" "" "" "MCM2(NM_004526.3):c.759G>A (p.A253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127606203G>A" "" "likely benign" "" "0000517761" "0" "30" "3" "127334773" "127334773" "subst" "0.000117785" "01943" "MCM2_000007" "g.127334773G>C" "" "" "" "MCM2(NM_004526.3):c.1497G>C (p.L499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127615930G>C" "" "likely benign" "" "0000517762" "0" "30" "3" "127335841" "127335841" "subst" "0.000109688" "01943" "MCM2_000008" "g.127335841G>A" "" "" "" "MCM2(NM_004526.3):c.1653G>A (p.A551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127616998G>A" "" "likely benign" "" "0000517763" "0" "30" "3" "127339703" "127339703" "subst" "8.6226E-5" "02327" "MCM2_000009" "g.127339703G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127620860G>A" "" "likely benign" "" "0000517764" "0" "30" "3" "127339706" "127339706" "subst" "0.000227666" "01943" "MCM2_000010" "g.127339706A>G" "" "" "" "MCM2(NM_004526.3):c.2431A>G (p.M811V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127620863A>G" "" "likely benign" "" "0000517765" "0" "50" "3" "127339710" "127339710" "subst" "0.000165697" "01943" "MCM2_000011" "g.127339710G>A" "" "" "" "MCM2(NM_004526.3):c.2435G>A (p.R812H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127620867G>A" "" "VUS" "" "0000608287" "0" "30" "3" "127318196" "127318196" "subst" "1.21861E-5" "01943" "MCM2_000012" "g.127318196G>A" "" "" "" "MCM2(NM_004526.3):c.42G>A (p.P14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127599353G>A" "" "likely benign" "" "0000608288" "0" "50" "3" "127323873" "127323873" "subst" "8.12321E-6" "02327" "MCM2_000013" "g.127323873C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127605030C>T" "" "VUS" "" "0000608289" "0" "30" "3" "127337872" "127337872" "subst" "7.93413E-5" "01943" "MCM2_000014" "g.127337872C>T" "" "" "" "MCM2(NM_004526.3):c.2016C>T (p.D672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127619029C>T" "" "likely benign" "" "0000608290" "0" "50" "3" "127338054" "127338054" "subst" "1.21872E-5" "01943" "MCM2_000015" "g.127338054C>T" "" "" "" "MCM2(NM_004526.3):c.2198C>T (p.P733L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127619211C>T" "" "VUS" "" "0000608291" "0" "30" "3" "127338055" "127338055" "subst" "9.34344E-5" "01943" "MCM2_000016" "g.127338055G>A" "" "" "" "MCM2(NM_004526.3):c.2199G>A (p.P733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127619212G>A" "" "likely benign" "" "0000621165" "0" "50" "3" "127339722" "127339722" "subst" "8.37325E-6" "01943" "MCM2_000017" "g.127339722A>G" "" "" "" "MCM2(NM_004526.3):c.2447A>G (p.K816R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127620879A>G" "" "VUS" "" "0000639254" "1" "99" "3" "127318284" "127318284" "subst" "1.21825E-5" "00004" "MCM2_000018" "g.127318284C>T" "" "{DB:DVD}, {PMID:Gao 2015:26196677}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.127599441C>T" "" "pathogenic" "" "0000651054" "1" "30" "3" "127334777" "127334777" "subst" "0.00352147" "03575" "MCM2_000019" "g.127334777G>A" "40/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "40 heterozygous; {DB:CLININrs13087457}" "Germline" "" "rs13087457" "0" "" "" "g.127615934G>A" "" "likely benign" "" "0000654789" "0" "30" "3" "127327320" "127327320" "subst" "0.000320906" "01943" "MCM2_000020" "g.127327320C>T" "" "" "" "MCM2(NM_004526.3):c.1197C>T (p.L399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127608477C>T" "" "likely benign" "" "0000669738" "3" "30" "3" "127334777" "127334777" "subst" "0.00352147" "03575" "MCM2_000019" "g.127334777G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs13087457}" "Germline" "" "rs13087457" "0" "" "" "g.127615934G>A" "" "likely benign" "" "0000688919" "0" "30" "3" "127318154" "127318154" "subst" "8.14352E-6" "01943" "MCM2_000021" "g.127318154C>A" "" "" "" "MCM2(NM_004526.3):c.7-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000712178" "0" "50" "3" "127339611" "127339611" "subst" "4.8794E-5" "03611" "MCM2_000023" "g.127339611G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG BP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.127620768G>A" "" "VUS" "ACMG" "0000719170" "0" "50" "3" "127325493" "127325493" "subst" "0.000488472" "01943" "MCM2_000024" "g.127325493G>C" "" "" "" "MCM2(NM_004526.3):c.934G>C (p.V312L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800953" "0" "50" "3" "127327354" "127327354" "subst" "1.22005E-5" "01943" "MCM2_000025" "g.127327354G>A" "" "" "" "MCM2(NM_004526.3):c.1231G>A (p.E411K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800954" "0" "30" "3" "127336130" "127336130" "subst" "0" "01943" "MCM2_000026" "g.127336130C>T" "" "" "" "MCM2(NM_004526.3):c.1782C>T (p.D594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850120" "0" "50" "3" "127339654" "127339654" "subst" "8.537E-5" "02327" "MCM2_000027" "g.127339654G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911823" "0" "50" "3" "127335845" "127335845" "subst" "0" "02327" "MCM2_000028" "g.127335845G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000917861" "0" "70" "3" "127323873" "127323873" "subst" "8.12321E-6" "00006" "MCM2_000013" "g.127323873C>T" "" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}" "" "" "variant found in unaffected individuals" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000944365" "0" "70" "3" "127318194" "127318194" "subst" "1.62481E-5" "00006" "MCM2_000029" "g.127318194C>T" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.127599351C>T" "" "likely pathogenic (dominant)" "" "0000960160" "0" "50" "3" "127334731" "127334731" "subst" "0" "00006" "MCM2_000022" "g.127334731C>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, BP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.127615888C>G" "" "VUS" "ACMG" "0000962465" "0" "50" "3" "127339607" "127339607" "subst" "2.03278E-5" "02327" "MCM2_000030" "g.127339607G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975551" "0" "50" "3" "127336174" "127336174" "subst" "4.06118E-6" "01804" "MCM2_000031" "g.127336174T>C" "" "" "" "MCM2(NM_004526.4):c.1826T>C (p.(Ile609Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993257" "0" "50" "3" "127327727" "127327727" "subst" "3.65456E-5" "01804" "MCM2_000032" "g.127327727A>G" "" "" "" "MCM2(NM_004526.3):c.1289A>G (p.(Asn430Ser))" "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 MCM2 ## Count = 34 "{{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}}" "0000471338" "00011905" "30" "398" "0" "398" "0" "c.398G>A" "r.(398g.a)" "p.(Arg133His)" "" "0000517756" "00011905" "50" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118Gln)" "" "0000517757" "00011905" "50" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Arg149His)" "" "0000517758" "00011905" "30" "465" "0" "465" "0" "c.465G>A" "r.(?)" "p.(Glu155=)" "" "0000517759" "00011905" "10" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(Asp160=)" "" "0000517760" "00011905" "30" "759" "0" "759" "0" "c.759G>A" "r.(?)" "p.(Ala253=)" "" "0000517761" "00011905" "30" "1497" "0" "1497" "0" "c.1497G>C" "r.(?)" "p.(Leu499=)" "" "0000517762" "00011905" "30" "1653" "0" "1653" "0" "c.1653G>A" "r.(?)" "p.(Ala551=)" "" "0000517763" "00011905" "30" "2428" "0" "2428" "0" "c.2428G>A" "r.(?)" "p.(Val810Ile)" "" "0000517764" "00011905" "30" "2431" "0" "2431" "0" "c.2431A>G" "r.(?)" "p.(Met811Val)" "" "0000517765" "00011905" "50" "2435" "0" "2435" "0" "c.2435G>A" "r.(?)" "p.(Arg812His)" "" "0000608287" "00011905" "30" "42" "0" "42" "0" "c.42G>A" "r.(?)" "p.(Pro14=)" "" "0000608288" "00011905" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Cys)" "" "0000608289" "00011905" "30" "2016" "0" "2016" "0" "c.2016C>T" "r.(?)" "p.(Asp672=)" "" "0000608290" "00011905" "50" "2198" "0" "2198" "0" "c.2198C>T" "r.(?)" "p.(Pro733Leu)" "" "0000608291" "00011905" "30" "2199" "0" "2199" "0" "c.2199G>A" "r.(?)" "p.(Pro733=)" "" "0000621165" "00011905" "50" "2447" "0" "2447" "0" "c.2447A>G" "r.(?)" "p.(Lys816Arg)" "" "0000639254" "00011905" "99" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44Cys)" "0" "0000651054" "00011905" "30" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Gly501Arg)" "" "0000654789" "00011905" "30" "1197" "0" "1197" "0" "c.1197C>T" "r.(?)" "p.(Leu399=)" "" "0000669738" "00011905" "30" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Gly501Arg)" "" "0000688919" "00011905" "30" "7" "-7" "7" "-7" "c.7-7C>A" "r.(=)" "p.(=)" "" "0000712178" "00011905" "50" "2336" "0" "2336" "0" "c.2336G>A" "r.(?)" "p.(Arg779His)" "" "0000719170" "00011905" "50" "934" "0" "934" "0" "c.934G>C" "r.(?)" "p.(Val312Leu)" "" "0000800953" "00011905" "50" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Glu411Lys)" "" "0000800954" "00011905" "30" "1782" "0" "1782" "0" "c.1782C>T" "r.(?)" "p.(Asp594=)" "" "0000850120" "00011905" "50" "2379" "0" "2379" "0" "c.2379G>A" "r.(?)" "p.(Met793Ile)" "" "0000911823" "00011905" "50" "1657" "0" "1657" "0" "c.1657G>T" "r.(?)" "p.(Ala553Ser)" "" "0000917861" "00011905" "70" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Cys)" "" "0000944365" "00011905" "70" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Pro14Ser)" "" "0000960160" "00011905" "50" "1455" "0" "1455" "0" "c.1455C>G" "r.(?)" "p.(Ile485Met)" "" "0000962465" "00011905" "50" "2332" "0" "2332" "0" "c.2332G>A" "r.(?)" "p.(Ala778Thr)" "" "0000975551" "00011905" "50" "1826" "0" "1826" "0" "c.1826T>C" "r.(?)" "p.(Ile609Thr)" "" "0000993257" "00011905" "50" "1289" "0" "1289" "0" "c.1289A>G" "r.(?)" "p.(Asn430Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000229990" "0000471338" "0000283512" "0000639254" "0000294365" "0000651054" "0000306050" "0000669738" "0000328245" "0000960160" "0000328252" "0000712178" "0000432397" "0000917861" "0000443006" "0000944365"