### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRT81) # 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}}" "KRT81" "keratin 81" "12" "q13" "unknown" "NC_000012.11" "UD_132118990751" "" "https://www.LOVD.nl/KRT81" "" "1" "6458" "3887" "602153" "1" "1" "1" "1" "Alias KRTHB1.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KRT81_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-12-07 15:44:23" "00000" "2026-03-09 14:56:09" ## 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}}" "00010812" "KRT81" "keratin 81" "001" "NM_002281.3" "" "NP_002272.2" "" "" "" "-50" "1860" "1518" "52685299" "52679697" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "01443" "MNLIX" "Monilethrix" "AD" "158000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KRT81" "01443" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00443929" "" "" "" "1" "" "00006" "{PMID:van Steensel 2005:15744029}" "controls" "" "" "" "" "0" "" "" "" "" "00443930" "" "" "" "1" "" "00006" "{PMID:van Steensel 2005:15744029}" "controls" "" "" "" "" "0" "" "" "" "" "00443931" "" "" "" "10" "" "00006" "{PMID:Khandpur 2004:15050877}" "3-generation family, 10 affected (6F, 4M)" "M" "" "India" "" "0" "" "" "" "Fam1PatII3" "00443932" "" "" "" "6" "" "00006" "{PMID:Khandpur 2004:15050877}" "2-generation family, 6 affected (5F, M)" "" "" "India" "" "0" "" "" "" "Fam2" "00443934" "" "" "" "2" "" "00006" "{PMID:Winter 1997:9402962}" "3-generation family, 2 affected (father/daughter)" "" "" "Canada" "" "0" "" "" "" "Fam2" "00443935" "" "" "" "10" "" "00006" "{PMID:Winter 1998:9665406}" "3-generation family, 1 affected" "F" "" "France" "" "0" "" "" "" "family" "00443937" "" "" "" "7" "" "00006" "{PMID:Korge 1999:10504448}" "family, 7 affected" "" "" "Germany" "" "0" "" "" "" "FamM2" "00443938" "" "" "" "4" "" "00006" "{PMID:Korge 1999:10504448}" "family, 4 affected" "" "" "Germany" "" "0" "" "" "" "FamM6" "00443939" "" "" "" "3" "" "00006" "{PMID:Korge 1999:10504448}" "family, 3 affected" "" "" "Northern Ireland" "" "0" "" "" "" "FamM8" "00443940" "" "" "" "7" "" "00006" "{PMID:Korge 1999:10504448}" "family, 7 affected" "" "" "Germany" "" "0" "" "" "" "FamM11" "00443941" "" "" "" "2" "" "00006" "{PMID:Korge 1999:10504448}" "family, 2 affected" "" "" "Scotland" "" "0" "" "" "" "FamL" "00443942" "" "" "" "1" "" "00006" "{PMID:Horev 2003:14714571}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "Israel" "" "0" "" "" "" "FamAPatI3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00443929" "00000" "00443930" "00000" "00443931" "01443" "00443932" "01443" "00443934" "01443" "00443935" "01443" "00443937" "01443" "00443938" "01443" "00443939" "01443" "00443940" "01443" "00443941" "01443" "00443942" "01443" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 01443 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000333187" "01443" "00443931" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "MNLIX" "monilethrix" "0000333188" "01443" "00443932" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "MNLIX" "monilethrix" "0000333190" "01443" "00443934" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "MNLIX" "monilethrix" "0000333193" "01443" "00443937" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "MNLIX" "monilethrix" "0000333194" "01443" "00443938" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "MNLIX" "monilethrix" "0000333195" "01443" "00443939" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "MNLIX" "monilethrix" "0000333196" "01443" "00443940" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "MNLIX" "monilethrix" "0000333197" "01443" "00443941" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "MNLIX" "monilethrix" "0000333198" "01443" "00443942" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "MNLIX" "monilethrix" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000445425" "00443929" "1" "00006" "00006" "2010-03-16 17:08:40" "" "" "SEQ" "DNA" "" "" "0000445426" "00443930" "1" "00006" "00006" "2010-03-16 17:08:40" "" "" "SEQ" "DNA" "" "" "0000445427" "00443931" "1" "00006" "00006" "2010-03-16 17:11:36" "" "" "SEQ;SSCA" "DNA" "" "" "0000445428" "00443932" "1" "00006" "00006" "2010-03-16 17:11:36" "" "" "SEQ;SSCA" "DNA" "" "" "0000445430" "00443934" "1" "00006" "00006" "2010-03-16 17:11:36" "" "" "SEQ" "DNA" "" "" "0000445431" "00443935" "1" "00006" "00006" "2010-03-16 17:11:36" "" "" "SEQ" "DNA" "" "" "0000445434" "00443937" "1" "00006" "00006" "2010-03-16 17:11:36" "" "" "SEQ" "DNA" "" "" "0000445435" "00443938" "1" "00006" "00006" "2010-03-16 17:11:36" "" "" "SEQ" "DNA" "" "" "0000445436" "00443939" "1" "00006" "00006" "2010-03-16 17:11:36" "" "" "SEQ" "DNA" "" "" "0000445437" "00443940" "1" "00006" "00006" "2010-03-16 17:11:36" "" "" "SEQ" "DNA" "" "" "0000445438" "00443941" "1" "00006" "00006" "2010-03-16 17:11:36" "" "" "SEQ" "DNA" "" "" "0000445439" "00443942" "1" "00006" "00006" "2010-03-16 17:11:36" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000445425" "KRT81" "0000445426" "KRT81" "0000445427" "KRT86" "0000445428" "KRT86" "0000445430" "KRT81" "0000445431" "KRT81" "0000445434" "KRT81" "0000445435" "KRT81" "0000445436" "KRT81" "0000445437" "KRT81" "0000445438" "KRT81" "0000445439" "KRT81" ## 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}}" "0000248826" "0" "10" "12" "52681925" "52681925" "subst" "0.877347" "02325" "KRT81_000010" "g.52681925A>C" "" "" "" "KRT81(NM_002281.4):c.743T>G (p.L248R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52288141A>C" "" "benign" "" "0000281938" "0" "10" "12" "52681080" "52681080" "subst" "0.316453" "02325" "KRT81_000002" "g.52681080G>A" "" "" "" "KRT81(NM_002281.4):c.1053C>T (p.A351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52287296G>A" "" "benign" "" "0000281939" "0" "10" "12" "52685096" "52685096" "subst" "0.316689" "02325" "KRT81_000013" "g.52685096C>G" "" "" "" "KRT81(NM_002281.4):c.154G>C (p.G52R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52291312C>G" "" "benign" "" "0000281947" "0" "10" "12" "52699548" "52699548" "subst" "0.334836" "02325" "KRT86_000011" "g.52699548T>C" "" "" "" "KRT86(NM_001320198.2):c.1002T>C (p.A334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52305764T>C" "" "benign" "" "0000322868" "0" "50" "12" "52695897" "52695897" "subst" "0.00800843" "01804" "KRT86_000005" "g.52695897G>A" "" "" "" "KRT86(NM_002284.3):c.197G>A (p.(Arg66His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52302113G>A" "" "VUS" "" "0000548532" "0" "10" "12" "52681056" "52681056" "subst" "0.347497" "02325" "KRT81_000003" "g.52681056C>T" "" "" "" "KRT81(NM_002281.4):c.1077G>A (p.A359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52287272C>T" "" "benign" "" "0000548533" "0" "10" "12" "52696929" "52696929" "subst" "0.011208" "01943" "KRT86_000012" "g.52696929C>A" "" "" "" "KRT86(NM_001320198.1):c.415C>A (p.Q139K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52303145C>A" "" "benign" "" "0000657149" "0" "30" "12" "52680592" "52680592" "subst" "0" "01943" "KRT81_000007" "g.52680592A>G" "" "" "" "KRT81(NM_002281.3):c.1262T>C (p.I421T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52286808A>G" "" "likely benign" "" "0000657150" "0" "30" "12" "52681834" "52681834" "subst" "1.21823E-5" "01943" "KRT81_000008" "g.52681834A>G" "" "" "" "KRT81(NM_002281.3):c.834T>C (p.I278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52288050A>G" "" "likely benign" "" "0000679582" "0" "50" "12" "52682140" "52682140" "subst" "0.000105589" "02325" "KRT81_000009" "g.52682140C>T" "" "" "" "KRT81(NM_002281.4):c.735+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691373" "0" "50" "12" "52680929" "52680929" "subst" "0.000483756" "02325" "KRT81_000014" "g.52680929C>G" "" "" "" "KRT81(NM_002281.4):c.1204G>C (p.E402Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724129" "0" "30" "12" "52680144" "52680144" "subst" "0" "01943" "KRT81_000011" "g.52680144G>A" "" "" "" "KRT81(NM_002281.3):c.1413C>T (p.C471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724130" "0" "90" "12" "52700056" "52700056" "subst" "0" "02329" "KRT86_000013" "g.52700056G>T" "" "" "" "KRT86(NM_001320198.2):c.1239G>T (p.E413D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000805825" "0" "30" "12" "52681822" "52681822" "subst" "0.00111672" "01943" "KRT81_000012" "g.52681822A>T" "" "" "" "KRT81(NM_002281.3):c.846T>A (p.Y282*), KRT81(NM_002281.4):c.846T>A (p.(Tyr282Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952424" "0" "10" "12" "52682141" "52682141" "subst" "0.24065" "00006" "KRT81_000006" "g.52682141G>A" "0.24" "{PMID:van Steensel 2005:15744029}" "" "IVS4+4C>T" "" "Germline" "" "" "0" "" "" "g.52288357G>A" "" "benign" "" "0000952425" "0" "10" "12" "52684024" "52684024" "subst" "0" "00006" "KRT81_000015" "g.52684024T>G" "0.17" "{PMID:van Steensel 2005:15744029}" "" "" "" "Germline" "" "" "0" "" "" "g.52290240T>G" "" "benign" "" "0000952434" "3" "30" "12" "52681122" "52681122" "dup" "0" "00006" "KRT81_000001" "g.52681122dup" "" "{PMID:Khandpur 2004:15050877}" "" "g.4421insT;4461T>C;4485A>G" "c.1053=;1077=" "Germline" "" "" "0" "" "" "g.52287338dup" "" "likely benign" "" "0000952435" "3" "30" "12" "52681122" "52681122" "dup" "0" "00006" "KRT81_000001" "g.52681122dup" "" "{PMID:Khandpur 2004:15050877}" "" "g.4421insT" "" "Germline" "" "" "0" "" "" "g.52287338dup" "" "likely benign" "" "0000952436" "1" "30" "12" "52681080" "52681080" "subst" "0.316453" "00006" "KRT81_000002" "g.52681080G>A" "" "{PMID:Khandpur 2004:15050877}" "" "g.4421insT;4461T>C;4485A>G" "" "Germline" "" "" "0" "" "" "g.52287296G>A" "" "likely benign" "" "0000952437" "1" "30" "12" "52681056" "52681056" "subst" "0.347497" "00006" "KRT81_000003" "g.52681056C>T" "" "{PMID:Khandpur 2004:15050877}" "" "g.4421insT;4461T>C;4485A>G" "" "Germline" "" "" "0" "" "" "g.52287272C>T" "" "likely benign" "" "0000952439" "1" "90" "12" "52680896" "52680896" "subst" "8.13279E-6" "00006" "KRT81_000005" "g.52680896C>T" "" "{PMID:Winter 1997:9402962}" "" "" "variant present in clinically unremarkable paternal grandmother" "Germline" "yes" "" "0" "" "" "g.52287112C>T" "" "pathogenic" "" "0000952440" "1" "90" "12" "52680929" "52680929" "subst" "0" "00006" "KRT81_000004" "g.52680929C>T" "" "{PMID:Winter 1998:9665406}" "" "" "unaffected carrier mother/brother with psoriasis" "Germline" "" "" "0" "" "" "g.52287145C>T" "" "pathogenic" "" "0000952441" "1" "90" "12" "52680929" "52680929" "subst" "0" "00006" "KRT81_000004" "g.52680929C>T" "" "{PMID:Korge 1999:10504448}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52287145C>T" "" "pathogenic (dominant)" "" "0000952442" "1" "90" "12" "52680929" "52680929" "subst" "0" "00006" "KRT81_000004" "g.52680929C>T" "" "{PMID:Korge 1999:10504448}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52287145C>T" "" "pathogenic (dominant)" "" "0000952443" "1" "90" "12" "52680929" "52680929" "subst" "0" "00006" "KRT81_000004" "g.52680929C>T" "" "{PMID:Korge 1999:10504448}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52287145C>T" "" "pathogenic (dominant)" "" "0000952444" "1" "90" "12" "52680929" "52680929" "subst" "0" "00006" "KRT81_000004" "g.52680929C>T" "" "{PMID:Korge 1999:10504448}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52287145C>T" "" "pathogenic (dominant)" "" "0000952445" "1" "90" "12" "52680896" "52680896" "subst" "8.13279E-6" "00006" "KRT81_000005" "g.52680896C>T" "" "{PMID:Korge 1999:10504448}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52287112C>T" "" "pathogenic (dominant)" "" "0000952448" "0" "90" "12" "52680896" "52680896" "subst" "8.13279E-6" "00006" "KRT81_000005" "g.52680896C>T" "" "{PMID:Horev 2003:14714571}" "" "" "" "De novo" "" "" "0" "" "" "g.52287112C>T" "" "pathogenic (dominant)" "" "0000980354" "0" "50" "12" "52681822" "52681822" "subst" "0.00111672" "01804" "KRT81_000012" "g.52681822A>T" "" "" "" "KRT81(NM_002281.3):c.846T>A (p.Y282*), KRT81(NM_002281.4):c.846T>A (p.(Tyr282Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014994" "0" "30" "12" "52695864" "52695864" "subst" "0.000810954" "02325" "KRT81_000017" "g.52695864G>A" "" "" "" "KRT86(NM_001320198.2):c.164G>A (p.R55Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026205" "0" "50" "12" "52681868" "52681868" "subst" "3.24847E-5" "02325" "KRT81_000018" "g.52681868C>T" "" "" "" "KRT81(NM_002281.4):c.800G>A (p.R267Q), KRT86(NM_001320198.2):c.-5+12138C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039323" "0" "30" "12" "52680911" "52680911" "subst" "0.000122154" "01804" "KRT81_000019" "g.52680911G>A" "" "" "" "KRT81(NM_002281.4):c.1222C>T (p.(Arg408Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054350" "0" "30" "12" "52697001" "52697001" "subst" "0.00124854" "01804" "KRT81_000020" "g.52697001C>T" "" "" "" "KRT86(NM_001320198.2):c.487C>T (p.(Arg163Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001070245" "0" "50" "12" "52681822" "52681822" "subst" "0.00111672" "03779" "KRT81_000012" "g.52681822A>T" "" "" "" "" "" "Unknown" "" "rs138597671" "0" "" "" "" "" "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 KRT81 ## 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}}" "0000248826" "00010812" "10" "743" "0" "743" "0" "c.743T>G" "r.(?)" "p.(Leu248Arg)" "" "0000281938" "00010812" "10" "1053" "0" "1053" "0" "c.1053C>T" "r.(?)" "p.(Ala351=)" "" "0000281939" "00010812" "10" "154" "0" "154" "0" "c.154G>C" "r.(?)" "p.(Gly52Arg)" "" "0000281947" "00010812" "10" "-14299" "0" "-14299" "0" "c.-14299A>G" "r.(?)" "p.(=)" "" "0000322868" "00010812" "50" "-10648" "0" "-10648" "0" "c.-10648C>T" "r.(?)" "p.(=)" "" "0000548532" "00010812" "10" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Ala359=)" "" "0000548533" "00010812" "10" "-11680" "0" "-11680" "0" "c.-11680G>T" "r.(?)" "p.(=)" "" "0000657149" "00010812" "30" "1262" "0" "1262" "0" "c.1262T>C" "r.(?)" "p.(Ile421Thr)" "" "0000657150" "00010812" "30" "834" "0" "834" "0" "c.834T>C" "r.(?)" "p.(Ile278=)" "" "0000679582" "00010812" "50" "735" "5" "735" "5" "c.735+5G>A" "r.spl?" "p.?" "" "0000691373" "00010812" "50" "1204" "0" "1204" "0" "c.1204G>C" "r.(?)" "p.(Glu402Gln)" "" "0000724129" "00010812" "30" "1413" "0" "1413" "0" "c.1413C>T" "r.(?)" "p.(Cys471=)" "" "0000724130" "00010812" "90" "-14807" "0" "-14807" "0" "c.-14807C>A" "r.(?)" "p.(=)" "" "0000805825" "00010812" "30" "846" "0" "846" "0" "c.846T>A" "r.(?)" "p.(Tyr282*)" "" "0000952424" "00010812" "10" "735" "4" "735" "4" "c.735+4C>T" "r.(?)" "p.(=)" "" "0000952425" "00010812" "10" "416" "0" "416" "0" "c.416A>C" "r.(?)" "p.(Gln139Pro)" "" "0000952434" "00010812" "30" "1027" "-14" "1027" "-14" "c.1027-14dup" "r.(?)" "p.(=)" "" "0000952435" "00010812" "30" "1027" "-14" "1027" "-14" "c.1027-14dup" "r.(?)" "p.(=)" "" "0000952436" "00010812" "30" "1053" "0" "1053" "0" "c.1053C>T" "r.(?)" "p.(Ala351=)" "" "0000952437" "00010812" "30" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Ala359=)" "" "0000952439" "00010812" "90" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Glu413Lys)" "" "0000952440" "00010812" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000952441" "00010812" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000952442" "00010812" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000952443" "00010812" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000952444" "00010812" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000952445" "00010812" "90" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Glu413Lys)" "" "0000952448" "00010812" "90" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Glu413Lys)" "" "0000980354" "00010812" "50" "846" "0" "846" "0" "c.846T>A" "r.(?)" "p.(Tyr282*)" "" "0001014994" "00010812" "30" "-10615" "0" "-10615" "0" "c.-10615C>T" "r.(?)" "p.(=)" "" "0001026205" "00010812" "50" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Arg267Gln)" "" "0001039323" "00010812" "30" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "" "0001054350" "00010812" "30" "-11752" "0" "-11752" "0" "c.-11752G>A" "r.(?)" "p.(=)" "" "0001070245" "00010812" "50" "846" "0" "846" "0" "c.846T>A" "r.(?)" "p.(Tyr282Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000445425" "0000952424" "0000445426" "0000952425" "0000445427" "0000952435" "0000445427" "0000952436" "0000445427" "0000952437" "0000445428" "0000952434" "0000445430" "0000952439" "0000445431" "0000952440" "0000445434" "0000952441" "0000445435" "0000952442" "0000445436" "0000952443" "0000445437" "0000952444" "0000445438" "0000952445" "0000445439" "0000952448"