### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DFNA5)
# 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}}"
"DFNA5" "deafness, autosomal dominant 5" "7" "p15" "unknown" "NC_000007.13" "UD_132118432368" "" "https://www.LOVD.nl/GSDME" "" "1" "2810" "1687" "608798" "1" "1" "1" "1" "NOTE: gene name changed from DFNA5 to GSDME\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DFNA5_codingDNA.html" "1" "" "NOTE: gene name changed from DFNA5 to GSDME" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-28 16:06:20" "00000" "2025-05-05 21:14:00"
## 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}}"
"00025686" "DFNA5" "transcript variant 2" "003" "NM_001127453.1" "" "NP_001120925.1" "" "" "" "-88" "2162" "1491" "24797083" "24737974" "00006" "2022-01-28 16:06:43" "" ""
"00025777" "DFNA5" "transcript variant 1" "002" "NM_004403.2" "" "NP_004394.1" "" "" "" "-333" "2162" "1491" "24797639" "24737974" "00006" "2022-12-18 12:45:33" "" ""
## 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}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30"
"02333" "DFNA5" "deafness, autosomal dominant, type 5 (DFNA-5)" "AD" "600994" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"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"
"06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"DFNA5" "02333"
## Individuals ## Do not remove or alter this header ##
## Count = 26
"{{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}}"
"00050382" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00059138" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" ""
"00059141" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" ""
"00218349" "" "" "" "1" "" "02476" "" "" "F" "no" "Heard and McDonald Islands" "" "0" "" "" "" ""
"00283412" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" ""
"00283413" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" ""
"00283414" "" "" "" "1" "" "00004" "{PMID:Cheng 2007:17868390}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" ""
"00283415" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" ""
"00283416" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" ""
"00283417" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" ""
"00283418" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" ""
"00283419" "" "" "" "1" "" "00004" "{PMID:Chai 2014:24933359}" "" "" "" "" "" "0" "" "" "" ""
"00283420" "" "" "" "1" "" "00004" "{PMID:Bischoff 2004:14676472}" "" "" "" "" "" "0" "" "" "" ""
"00283421" "" "" "" "1" "" "00004" "{PMID:Van Laer 1998:9771715}, {PMID:Yu 2003:14559215}, {PMID:Bischoff 2004:14676472}, {PMID:Park 2010:19911014}, {PMID:Shearer 1993:20301607}, {PMID:Cheng 2007:17868390}, {PMID:Duzkale 2013:24033266}, {PMID:Nishio 2014:24506266}" "" "" "" "" "" "0" "" "" "" ""
"00283422" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" ""
"00283423" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" ""
"00283424" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" ""
"00283425" "" "" "" "1" "" "00004" "{PMID:Mutai 2013:24164807}" "" "" "" "" "" "0" "" "" "" ""
"00283426" "" "" "" "1" "" "00004" "{PMID:Van Laer 2007:17427029}" "" "" "" "" "" "0" "" "" "" ""
"00283427" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" ""
"00294418" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00327382" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB195-429"
"00396953" "" "" "" "16" "" "00110" "{PMID:Mansard 2022:35054374}" "5-generation family, 16 affected (13F, 3M)" "F" "no" "France" "" "0" "" "" "" "FR01242660041/FamS2426"
"00396959" "" "" "" "8" "" "00110" "{PMID:Mansard 2022:35054374}" "2-generation family, 8 affected (4F, M, 3 fetuses)" "M" "no" "France" "" "0" "" "" "" "FR01210652950/FamS2106"
"00427985" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A060"
"00441479" "" "" "" "24" "" "00006" "{PMID:Chen 2021:34956325}" "6-generation family, 24 affected (6F, 18M)" "F;M" "" "China" "" "0" "" "" "" "FamC"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 17
"{{individualid}}" "{{diseaseid}}"
"00050382" "00198"
"00059138" "00531"
"00059141" "00531"
"00218349" "05103"
"00283414" "05086"
"00283419" "05086"
"00283420" "05103"
"00283421" "05103"
"00283425" "05086"
"00283426" "00198"
"00294418" "00198"
"00327382" "05086"
"00396953" "02333"
"00396953" "06877"
"00396959" "02333"
"00427985" "00198"
"00441479" "05086"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00531, 02333, 05086, 05103, 06877
## Count = 11
"{{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}}"
"0000036994" "00198" "00050382" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, proportionate short stature, clinodactyly of the 5th finger, webbed neck, epicanthus, intellectual disability mild" "" "" "" "" "" "" "" "" "" "" ""
"0000216691" "00198" "00283426" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Potential protein deficiency" ""
"0000218206" "05086" "00283414" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" ""
"0000218207" "05086" "00283419" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" ""
"0000218208" "05086" "00283425" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, early-childhood" ""
"0000218462" "05103" "00283420" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" ""
"0000218463" "05103" "00283421" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 5" "deafness, autosomal dominant" ""
"0000290113" "06877" "00396953" "00110" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "bilateral progressive hearing loss" "bilateral progressive hearing loss" ""
"0000290114" "02333" "00396959" "00110" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "bilateral progressive hearing loss" "bilateral progressive hearing loss" ""
"0000318931" "00198" "00427985" "00006" "Familial, autosomal dominant" "52y" "" "" "" "" "" "" "" "" "" "Deafness, autosomal dominant 5" "" ""
"0000330919" "05086" "00441479" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNA5" "hearing loss" ""
## Screenings ## Do not remove or alter this header ##
## Count = 26
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000050327" "00050382" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000059109" "00059138" "1" "01551" "01551" "2016-02-29 09:29:56" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000059114" "00059141" "1" "01551" "01551" "2016-02-29 09:49:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000219418" "00218349" "1" "02476" "02476" "2019-01-22 19:54:37" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000284562" "00283412" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284563" "00283413" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284564" "00283414" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284565" "00283415" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284566" "00283416" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284567" "00283417" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284568" "00283418" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284569" "00283419" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284570" "00283420" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284571" "00283421" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284572" "00283422" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284573" "00283423" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284574" "00283424" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284575" "00283425" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284576" "00283426" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000284577" "00283427" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000295586" "00294418" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000328594" "00327382" "1" "03611" "03611" "2021-01-20 09:10:52" "" "" "SEQ-NG-I" "DNA" "" ""
"0000398195" "00396953" "1" "00110" "00110" "2021-12-17 16:26:54" "" "" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blooddfna" ""
"0000398201" "00396959" "1" "00110" "00110" "2021-12-17 16:50:24" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" ""
"0000429398" "00427985" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "fibroblasts" "singleton WES"
"0000442965" "00441479" "1" "00006" "00006" "2023-11-07 23:18:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 21
"{{screeningid}}" "{{geneid}}"
"0000059109" "DFNA5"
"0000059114" "DFNA5"
"0000219418" "DFNA5"
"0000284562" "DFNA5"
"0000284563" "DFNA5"
"0000284564" "DFNA5"
"0000284565" "DFNA5"
"0000284566" "DFNA5"
"0000284567" "DFNA5"
"0000284568" "DFNA5"
"0000284569" "DFNA5"
"0000284570" "DFNA5"
"0000284571" "DFNA5"
"0000284572" "DFNA5"
"0000284573" "DFNA5"
"0000284574" "DFNA5"
"0000284575" "DFNA5"
"0000284576" "DFNA5"
"0000284577" "DFNA5"
"0000398195" "DFNA5"
"0000398201" "DFNA5"
## 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 = 57
"{{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}}"
"0000079307" "0" "90" "7" "23187650" "32932034" "del" "0" "00006" "ADCYAP1R1_000001" "g.23187650_32932034del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" ""
"0000089906" "0" "50" "7" "24745824" "24745824" "subst" "2.43645E-5" "01551" "DFNA5_000001" "g.24745824A>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.24706205A>G" "" "VUS" ""
"0000089911" "0" "50" "7" "24745824" "24745824" "subst" "2.43645E-5" "01551" "DFNA5_000001" "g.24745824A>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.24706205A>G" "" "VUS" ""
"0000254311" "0" "30" "7" "24745875" "24745875" "subst" "4.87341E-5" "01943" "DFNA5_000004" "g.24745875A>C" "" "" "" "DFNA5(NM_004403.2):c.1111T>G (p.C371G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24706256A>C" "" "likely benign" ""
"0000267346" "0" "10" "7" "24758852" "24758852" "subst" "0.199861" "02325" "DFNA5_000012" "g.24758852C>T" "" "" "" "GSDME(NM_004403.3):c.405-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24719233C>T" "" "benign" ""
"0000267347" "0" "10" "7" "24758818" "24758818" "subst" "0.19979" "02325" "DFNA5_000011" "g.24758818G>T" "" "" "" "GSDME(NM_004403.3):c.424C>A (p.P142T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24719199G>T" "" "benign" ""
"0000267348" "0" "10" "7" "24758795" "24758795" "subst" "0.568618" "02325" "DFNA5_000010" "g.24758795T>C" "" "" "" "GSDME(NM_004403.3):c.447A>G (p.E149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24719176T>C" "" "benign" ""
"0000267349" "0" "10" "7" "24758753" "24758753" "subst" "0.199576" "02325" "DFNA5_000009" "g.24758753C>T" "" "" "" "GSDME(NM_004403.3):c.489G>A (p.T163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24719134C>T" "" "benign" ""
"0000267350" "0" "10" "7" "24756951" "24756951" "subst" "0.0927695" "02325" "DFNA5_000007" "g.24756951C>T" "" "" "" "GSDME(NM_004403.3):c.619G>A (p.V207M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24717332C>T" "" "benign" ""
"0000274964" "0" "50" "7" "24738862" "24738864" "del" "0" "01943" "DFNA5_000003" "g.24738862_24738864del" "" "" "" "DFNA5(NM_004403.2):c.1277_1279delATG (p.D426del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24699243_24699245del" "" "VUS" ""
"0000274965" "0" "50" "7" "24738788" "24738788" "subst" "0.00100316" "01943" "DFNA5_000002" "g.24738788G>A" "" "" "" "DFNA5(NM_004403.2):c.1348C>T (p.R450C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24699169G>A" "" "VUS" ""
"0000274966" "0" "30" "7" "24756983" "24756983" "subst" "9.34526E-5" "01943" "DFNA5_000008" "g.24756983G>A" "" "" "" "DFNA5(NM_004403.2):c.587C>T (p.T196M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24717364G>A" "" "likely benign" ""
"0000274967" "0" "50" "7" "24749993" "24749993" "subst" "0.000556372" "01943" "DFNA5_000006" "g.24749993G>A" "" "" "" "DFNA5(NM_004403.2):c.712C>T (p.R238*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24710374G>A" "" "VUS" ""
"0000274968" "0" "30" "7" "24747872" "24747872" "subst" "0.00124745" "01943" "DFNA5_000005" "g.24747872C>T" "" "" "" "DFNA5(NM_004403.2):c.864G>A (p.A288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24708253C>T" "" "likely benign" ""
"0000337615" "0" "90" "7" "24746001" "24746001" "subst" "0" "02327" "DFNA5_000013" "g.24746001G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24706382G>C" "" "pathogenic" ""
"0000342362" "0" "30" "7" "24749993" "24749993" "subst" "0.000556372" "02327" "DFNA5_000006" "g.24749993G>A" "" "" "" "DFNA5(NM_004403.2):c.712C>T (p.R238*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24710374G>A" "" "likely benign" ""
"0000344620" "0" "30" "7" "24758683" "24758683" "subst" "4.07163E-6" "02327" "DFNA5_000016" "g.24758683G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24719064G>A" "" "likely benign" ""
"0000350745" "0" "90" "7" "24746015" "24746017" "del" "0" "02327" "DFNA5_000014" "g.24746015_24746017del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24706396_24706398del" "" "pathogenic" ""
"0000454265" "0" "70" "7" "24789280" "24789280" "dup" "0" "02476" "DFNA5_000017" "g.24789280dup" "" "" "" "g.13365dup" "" "De novo" "-" "rs758488919" "0" "" "" "g.24749661dup" "{CV:228555}" "likely pathogenic" ""
"0000531718" "0" "30" "7" "24742438" "24742438" "subst" "0.00013809" "01943" "DFNA5_000018" "g.24742438C>T" "" "" "" "DFNA5(NM_004403.2):c.1198G>A (p.A400T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24702819C>T" "" "likely benign" ""
"0000531719" "0" "90" "7" "24745803" "24745803" "subst" "0" "02327" "DFNA5_000019" "g.24745803C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24706184C>T" "" "pathogenic" ""
"0000531720" "0" "30" "7" "24745870" "24745870" "subst" "4.46722E-5" "02327" "DFNA5_000020" "g.24745870C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24706251C>T" "" "likely benign" ""
"0000531721" "0" "30" "7" "24745925" "24745925" "subst" "5.28812E-5" "01943" "DFNA5_000021" "g.24745925T>G" "" "" "" "DFNA5(NM_004403.2):c.1061A>C (p.Q354P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24706306T>G" "" "likely benign" ""
"0000531722" "0" "30" "7" "24747797" "24747797" "subst" "0.000231498" "01943" "DFNA5_000022" "g.24747797G>A" "" "" "" "DFNA5(NM_004403.2):c.939C>T (p.I313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24708178G>A" "" "likely benign" ""
"0000531723" "0" "30" "7" "24756958" "24756958" "subst" "0.00112907" "01943" "DFNA5_000023" "g.24756958G>A" "" "" "" "DFNA5(NM_004403.2):c.612C>T (p.D204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24717339G>A" "" "likely benign" ""
"0000531724" "0" "30" "7" "24758721" "24758721" "subst" "0.000577776" "01943" "DFNA5_000024" "g.24758721A>G" "" "" "" "DFNA5(NM_004403.2):c.521T>C (p.M174T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24719102A>G" "" "likely benign" ""
"0000640304" "1" "33" "7" "24738720" "24738720" "subst" "0" "00004" "DFNA5_000025" "g.24738720C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24699101C>T" "" "likely benign" ""
"0000640305" "1" "55" "7" "24738781" "24738781" "subst" "4.06121E-6" "00004" "DFNA5_000026" "g.24738781A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24699162A>G" "" "VUS" ""
"0000640306" "1" "99" "7" "24745799" "24745799" "subst" "0" "00004" "DFNA5_000027" "g.24745799T>C" "" "{DB:DVD}, {PMID:Cheng 2007:17868390}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24706180T>C" "" "pathogenic" ""
"0000640307" "1" "33" "7" "24745864" "24745864" "subst" "0.000434532" "00004" "DFNA5_000028" "g.24745864G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24706245G>A" "" "likely benign" ""
"0000640308" "1" "55" "7" "24745868" "24745868" "subst" "4.8731E-5" "00004" "DFNA5_000029" "g.24745868C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24706249C>T" "" "VUS" ""
"0000640309" "1" "99" "7" "24745884" "24745884" "subst" "0" "00004" "DFNA5_000030" "g.24745884G>C" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24706265G>C" "" "pathogenic" ""
"0000640310" "1" "55" "7" "24745995" "24745995" "subst" "9.47048E-5" "00004" "DFNA5_000031" "g.24745995A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24706376A>G" "" "VUS" ""
"0000640311" "1" "99" "7" "24745997" "24745997" "subst" "0" "00004" "DFNA5_000032" "g.24745997T>C" "" "{DB:DVD}, {PMID:Chai 2014:24933359}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24706378T>C" "" "pathogenic" ""
"0000640312" "1" "99" "7" "24746001" "24746001" "subst" "0" "00004" "DFNA5_000013" "g.24746001G>C" "" "{DB:DVD}, {PMID:Bischoff 2004:14676472}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24706382G>C" "" "pathogenic" ""
"0000640313" "1" "99" "7" "24746015" "24746017" "del" "0" "00004" "DFNA5_000014" "g.24746015_24746017del" "" "{DB:DVD}, {PMID:Van Laer 1998:9771715}, {PMID:Yu 2003:14559215}, {PMID:Bischoff 2004:14676472}, {PMID:Park 2010:19911014}, {PMID:Shearer 1993:20301607}, {PMID:Cheng 2007:17868390}, {PMID:Duzkale 2013:24033266}, {PMID:Nishio 2014:24506266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24706396_24706398del" "" "pathogenic" ""
"0000640314" "1" "33" "7" "24747767" "24747767" "subst" "0" "00004" "DFNA5_000033" "g.24747767T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24708148T>C" "" "likely benign" ""
"0000640315" "1" "33" "7" "24749831" "24749832" "ins" "0" "00004" "DFNA5_000034" "g.24749831_24749832insC" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24710212_24710213insC" "" "likely benign" ""
"0000640316" "1" "33" "7" "24749879" "24749879" "subst" "2.84243E-5" "00004" "DFNA5_000035" "g.24749879A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24710260A>G" "" "likely benign" ""
"0000640317" "1" "77" "7" "24749924" "24749924" "subst" "5.68486E-5" "00004" "DFNA5_000036" "g.24749924G>A" "" "{DB:DVD}, {PMID:Mutai 2013:24164807}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24710305G>A" "" "likely pathogenic" ""
"0000640318" "1" "11" "7" "24756929" "24756929" "dup" "0" "00004" "DFNA5_000037" "g.24756929dup" "" "{DB:DVD}, {PMID:Van Laer 2007:17427029}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24717310dup" "" "benign" ""
"0000640319" "1" "55" "7" "24758689" "24758689" "subst" "3.6639E-5" "00004" "DFNA5_000038" "g.24758689C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24719070C>T" "" "VUS" ""
"0000652275" "1" "30" "7" "24742437" "24742437" "subst" "0.0162383" "03575" "DFNA5_000039" "g.24742437G>A" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs71535705}" "Germline" "" "rs71535705" "0" "" "" "g.24702818G>A" "" "likely benign" ""
"0000655811" "0" "30" "7" "24745894" "24745907" "del" "0" "02327" "DFNA5_000040" "g.24745894_24745907del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24706275_24706288del" "" "likely benign" ""
"0000689977" "0" "70" "7" "24745803" "24745803" "subst" "0" "02327" "DFNA5_000041" "g.24745803C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000689978" "0" "50" "7" "24756884" "24756884" "dup" "0" "01943" "DFNA5_000042" "g.24756884dup" "" "" "" "GSDME(NM_004403.2):c.686dupA (p.D229Efs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000712478" "0" "70" "7" "24746008" "24746010" "del" "0" "03611" "DFNA5_000043" "g.24746008_24746010del" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "NM_004403.2:c.991-15_991-13delTTC" "ACMG PM2, PP1_S, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.24706396_24706398del" "" "likely pathogenic" "ACMG"
"0000803109" "0" "70" "7" "24756895" "24756895" "subst" "4.06121E-6" "02327" "DFNA5_000044" "g.24756895G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000830410" "11" "90" "7" "24745893" "24746057" "del" "0" "00110" "DFNA5_000046" "g.24745893_24746057del" "" "{PMID:Mansard et al., 2022:35054374}" "" "" "" "Germline" "yes" "" "0" "" "" "g.24706274_24706438del" "" "pathogenic (dominant)" "ACMG"
"0000830411" "0" "90" "7" "24745979" "24746953" "" "0" "00110" "DFNA5_000045" "g.[24745979_24746953del;24744427_24745957del]" "" "{PMID:Mansard et al., 2022:35054374}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000860724" "0" "50" "7" "24745978" "24745978" "subst" "1.22838E-5" "02327" "DFNA5_000047" "g.24745978G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000860725" "0" "90" "7" "24747874" "24747874" "subst" "0" "01943" "DFNA5_000048" "g.24747874C>T" "" "" "" "GSDME(NM_004403.2):c.863-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000887827" "0" "50" "7" "24745804" "24745804" "subst" "0" "02327" "DFNA5_000049" "g.24745804T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000908871" "0" "70" "7" "24745798" "24745798" "subst" "4.06147E-6" "00006" "DFNA5_000050" "g.24745798C>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "transcripts cycloheximide insensitive" "Germline" "" "" "0" "" "" "g.24706179C>T" "" "pathogenic (dominant)" ""
"0000924700" "0" "50" "7" "24738646" "24738646" "subst" "1.63248E-5" "02327" "DFNA5_000051" "g.24738646C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000944323" "1" "50" "7" "24746015" "24746017" "del" "0" "00006" "DFNA5_000014" "g.24746015_24746017del" "" "{PMID:Chen 2021:34956325}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.24706396_24706398del" "" "VUS" ""
"0001017944" "0" "10" "7" "24742436" "24742437" "inv" "0" "03779" "DFNA5_000052" "g.24742436_24742437inv" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" ""
## 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 DFNA5
## Count = 90
"{{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}}"
"0000079307" "00025686" "90" "-8135039" "0" "1552486" "0" "c.-8135039_*1550995del" "r.0?" "p.0?" ""
"0000079307" "00025777" "90" "-8134728" "0" "1552486" "0" "c.-8134728_*1550995del" "r.0?" "p.0?" ""
"0000089906" "00025686" "50" "1162" "0" "1162" "0" "c.1162T>C" "r.(?)" "p.Phe388Leu" ""
"0000089911" "00025686" "50" "1162" "0" "1162" "0" "c.1162T>C" "r.(?)" "p.(Phe388Leu)" ""
"0000254311" "00025686" "30" "1111" "0" "1111" "0" "c.1111T>G" "r.(?)" "p.(Cys371Gly)" ""
"0000254311" "00025777" "30" "1111" "0" "1111" "0" "c.1111T>G" "r.(?)" "p.(Cys371Gly)" ""
"0000267346" "00025686" "10" "405" "-15" "405" "-15" "c.405-15G>A" "r.(=)" "p.(=)" ""
"0000267346" "00025777" "10" "405" "-15" "405" "-15" "c.405-15G>A" "r.(=)" "p.(=)" ""
"0000267347" "00025686" "10" "424" "0" "424" "0" "c.424C>A" "r.(?)" "p.(Pro142Thr)" ""
"0000267347" "00025777" "10" "424" "0" "424" "0" "c.424C>A" "r.(?)" "p.(Pro142Thr)" ""
"0000267348" "00025686" "10" "447" "0" "447" "0" "c.447A>G" "r.(?)" "p.(Glu149=)" ""
"0000267348" "00025777" "10" "447" "0" "447" "0" "c.447A>G" "r.(?)" "p.(Glu149=)" ""
"0000267349" "00025686" "10" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(Thr163=)" ""
"0000267349" "00025777" "10" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(Thr163=)" ""
"0000267350" "00025686" "10" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Val207Met)" ""
"0000267350" "00025777" "10" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Val207Met)" ""
"0000274964" "00025686" "50" "1277" "0" "1279" "0" "c.1277_1279del" "r.(?)" "p.(Asp426del)" ""
"0000274964" "00025777" "50" "1277" "0" "1279" "0" "c.1277_1279del" "r.(?)" "p.(Asp426del)" ""
"0000274965" "00025686" "50" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Cys)" ""
"0000274965" "00025777" "50" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Cys)" ""
"0000274966" "00025686" "30" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Thr196Met)" ""
"0000274966" "00025777" "30" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Thr196Met)" ""
"0000274967" "00025686" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238Ter)" ""
"0000274967" "00025777" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238Ter)" ""
"0000274968" "00025686" "30" "864" "0" "864" "0" "c.864G>A" "r.(?)" "p.(Ala288=)" ""
"0000274968" "00025777" "30" "864" "0" "864" "0" "c.864G>A" "r.(?)" "p.(Ala288=)" ""
"0000337615" "00025686" "90" "991" "-6" "991" "-6" "c.991-6C>G" "r.(=)" "p.(=)" ""
"0000337615" "00025777" "90" "991" "-6" "991" "-6" "c.991-6C>G" "r.(=)" "p.(=)" ""
"0000342362" "00025686" "30" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238Ter)" ""
"0000342362" "00025777" "30" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238Ter)" ""
"0000344620" "00025686" "30" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Gln187Ter)" ""
"0000344620" "00025777" "30" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Gln187Ter)" ""
"0000350745" "00025686" "90" "991" "-15" "991" "-13" "c.991-15_991-13del" "r.(=)" "p.(=)" ""
"0000350745" "00025777" "90" "991" "-15" "991" "-13" "c.991-15_991-13del" "r.(=)" "p.(=)" ""
"0000454265" "00025686" "70" "119" "0" "119" "0" "c.119dup" "r.(?)" "p.(Lys41Glufs*113)" ""
"0000531718" "00025686" "30" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Ala400Thr)" ""
"0000531718" "00025777" "30" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Ala400Thr)" ""
"0000531719" "00025686" "90" "1183" "0" "1183" "0" "c.1183G>A" "r.(?)" "p.(Glu395Lys)" ""
"0000531719" "00025777" "90" "1183" "0" "1183" "0" "c.1183G>A" "r.(?)" "p.(Glu395Lys)" ""
"0000531720" "00025686" "30" "1116" "0" "1116" "0" "c.1116G>A" "r.(?)" "p.(Pro372=)" ""
"0000531720" "00025777" "30" "1116" "0" "1116" "0" "c.1116G>A" "r.(?)" "p.(Pro372=)" ""
"0000531721" "00025686" "30" "1061" "0" "1061" "0" "c.1061A>C" "r.(?)" "p.(Gln354Pro)" ""
"0000531721" "00025777" "30" "1061" "0" "1061" "0" "c.1061A>C" "r.(?)" "p.(Gln354Pro)" ""
"0000531722" "00025686" "30" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ile313=)" ""
"0000531722" "00025777" "30" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ile313=)" ""
"0000531723" "00025686" "30" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(Asp204=)" ""
"0000531723" "00025777" "30" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(Asp204=)" ""
"0000531724" "00025686" "30" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Met174Thr)" ""
"0000531724" "00025777" "30" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Met174Thr)" ""
"0000640304" "00025686" "33" "1416" "0" "1416" "0" "c.1416G>A" "r.(=)" "p.(=)" "10"
"0000640305" "00025686" "55" "1355" "0" "1355" "0" "c.1355T>C" "r.(?)" "p.(Phe452Ser)" "10"
"0000640306" "00025686" "99" "1183" "4" "1183" "4" "c.1183+4A>G" "r.spl?" "p.?" "8i"
"0000640307" "00025686" "33" "1122" "0" "1122" "0" "c.1122C>T" "r.(=)" "p.(=)" "8"
"0000640308" "00025686" "55" "1118" "0" "1118" "0" "c.1118G>A" "r.(?)" "p.(Gly373Asp)" "8"
"0000640309" "00025686" "99" "1102" "0" "1102" "0" "c.1102C>G" "r.(?)" "p.(Gln368Glu)" "8"
"0000640310" "00025686" "55" "991" "0" "991" "0" "c.991T>C" "r.(?)" "p.(Cys331Arg)" "8"
"0000640311" "00025686" "99" "991" "-2" "991" "-2" "c.991-2A>G" "r.spl?" "p.?" "7i"
"0000640312" "00025686" "99" "991" "-6" "991" "-6" "c.991-6C>G" "r.(=)" "p.(=)" "7i"
"0000640313" "00025686" "99" "991" "-15" "991" "-13" "c.991-15_991-13del" "r.(=)" "p.(=)" "7i"
"0000640314" "00025686" "33" "969" "0" "969" "0" "c.969A>G" "r.(=)" "p.(=)" "7"
"0000640315" "00025686" "33" "862" "11" "862" "12" "c.862+11_862+12insG" "r.(=)" "p.(=)" "6i"
"0000640316" "00025686" "33" "826" "0" "826" "0" "c.826T>C" "r.(?)" "p.(Ser276Pro)" "6"
"0000640317" "00025686" "77" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261*)" "6"
"0000640318" "00025686" "11" "642" "0" "642" "0" "c.642dup" "r.(?)" "p.(Thr215Hisfs*9)" "5"
"0000640319" "00025686" "55" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Gly185Ser)" "4"
"0000652275" "00025686" "30" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Ala400Val)" ""
"0000652275" "00025777" "30" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Ala400Val)" ""
"0000655811" "00025686" "30" "1086" "0" "1099" "0" "c.1086_1099del" "r.(?)" "p.(Val363ThrfsTer32)" ""
"0000655811" "00025777" "30" "1086" "0" "1099" "0" "c.1086_1099del" "r.(?)" "p.(Val363ThrfsTer32)" ""
"0000689977" "00025686" "70" "1183" "0" "1183" "0" "c.1183G>T" "r.(?)" "p.(Glu395Ter)" ""
"0000689977" "00025777" "70" "1183" "0" "1183" "0" "c.1183G>T" "r.(?)" "p.(Glu395Ter)" ""
"0000689978" "00025686" "50" "686" "0" "686" "0" "c.686dup" "r.(?)" "p.(Asp229GlufsTer23)" ""
"0000689978" "00025777" "50" "686" "0" "686" "0" "c.686dup" "r.(?)" "p.(Asp229GlufsTer23)" ""
"0000712478" "00025686" "70" "991" "-15" "991" "-13" "c.991-15_991-13del" "r.(?)" "p.?" ""
"0000803109" "00025686" "70" "675" "0" "675" "0" "c.675C>G" "r.(?)" "p.(Tyr225*)" ""
"0000803109" "00025777" "70" "675" "0" "675" "0" "c.675C>G" "r.(?)" "p.(Tyr225*)" ""
"0000830410" "00025686" "90" "991" "-60" "1095" "0" "c.991-60_1095del" "r.991_1183del" "p.?" "7i_8"
"0000830411" "00025686" "90" "990" "793" "1007" "0" "c.[990+793_1007del;1029_1183+1376del]" "r.?" "p.?" "7i_8i"
"0000860724" "00025686" "50" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Ser336=)" ""
"0000860724" "00025777" "50" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Ser336=)" ""
"0000860725" "00025686" "90" "863" "-1" "863" "-1" "c.863-1G>A" "r.spl?" "p.?" ""
"0000860725" "00025777" "90" "863" "-1" "863" "-1" "c.863-1G>A" "r.spl?" "p.?" ""
"0000887827" "00025686" "50" "1182" "0" "1182" "0" "c.1182A>C" "r.(?)" "p.(Ala394=)" ""
"0000887827" "00025777" "50" "1182" "0" "1182" "0" "c.1182A>C" "r.(?)" "p.(Ala394=)" ""
"0000908871" "00025686" "70" "1183" "5" "1183" "5" "c.1183+5G>A" "r.991_1183del" "p.Cys331Lysfs*42" ""
"0000924700" "00025686" "50" "1490" "0" "1490" "0" "c.1490G>C" "r.(?)" "p.(*497Serext*4)" ""
"0000924700" "00025777" "50" "1490" "0" "1490" "0" "c.1490G>C" "r.(?)" "p.(*497Serext*4)" ""
"0000944323" "00025686" "50" "991" "-15" "991" "-13" "c.991-15_991-13del" "r.(991_1183del)" "p.(Cys331fs)" ""
"0000944323" "00025777" "50" "991" "-15" "991" "-13" "c.991-15_991-13del" "r.(991_1183del)" "p.(Cys331fs)" ""
"0001017944" "00025686" "10" "1199" "0" "1200" "0" "c.1199_1200inv" "r.(?)" "p.(Ala400Val)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 26
"{{screeningid}}" "{{variantid}}"
"0000050327" "0000079307"
"0000059109" "0000089906"
"0000059114" "0000089911"
"0000219418" "0000454265"
"0000284562" "0000640304"
"0000284563" "0000640305"
"0000284564" "0000640306"
"0000284565" "0000640307"
"0000284566" "0000640308"
"0000284567" "0000640309"
"0000284568" "0000640310"
"0000284569" "0000640311"
"0000284570" "0000640312"
"0000284571" "0000640313"
"0000284572" "0000640314"
"0000284573" "0000640315"
"0000284574" "0000640316"
"0000284575" "0000640317"
"0000284576" "0000640318"
"0000284577" "0000640319"
"0000295586" "0000652275"
"0000328594" "0000712478"
"0000398195" "0000830410"
"0000398201" "0000830411"
"0000429398" "0000908871"
"0000442965" "0000944323"