### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASPH) # 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}}" "ASPH" "aspartate beta-hydroxylase" "8" "q12.1" "unknown" "NC_000008.10" "UD_132118287176" "" "https://www.LOVD.nl/ASPH" "" "1" "757" "444" "600582" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-07-01 11:34:55" "00000" "2025-05-05 21:14:00" ## 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}}" "00002992" "ASPH" "transcript variant 1" "001" "NM_004318.3" "" "NP_004309.2" "" "" "" "-269" "5080" "2277" "62627199" "62413115" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02375" "Traboulsi" "Traboulsi syndrome (FDLAB)" "AR" "601552" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-07-01 11:35:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ASPH" "02375" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00375522" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00451694" "" "" "" "1" "" "04670" "{PMID:Chen 2024:38788814}, {DOI:Chen 2024:10.1016/j.gene.2024.148600}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "China" "" "0" "" "" "Chinese" "ASPH-01" "00451695" "" "" "" "1" "" "04670" "{PMID:Chen 2024:38788814}, {DOI:Chen 2024:10.1016/j.gene.2024.148600}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "China" "" "0" "" "" "Chinese" "ASPH-02" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00375522" "00198" "00451694" "02375" "00451695" "02375" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02375 ## Count = 3 "{{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}}" "0000270736" "00198" "00375522" "01807" "Unknown" "" "Inguinal hernia (HP:0000023); Ectopia lentis (HP:0001083); Meningocele (HP:0002435); Scoliosis (HP:0002650); Abnormality of connective tissue (HP:0003549); Vitreous hemorrhage (HP:0007902); Clinodactyly (HP:0030084); Arachnoid cyst (HP:0100702); Dural ectasia (HP:0100775)" "" "" "" "" "" "" "" "" "" "" "" "0000340354" "02375" "00451694" "04670" "Familial, autosomal recessive" "" "Facial dysmorphic features were \r\nremarkable including long appearance, retrognathia, malar hypoplasia, \r\nand dental malocclusion.The lens \r\nwas subluxated anteriorly with a shallow anterior chamber bilaterally. \r\nAs is quantified by AS-OCT, the lens had reduced equatorial d" "" "05y" "" "" "" "" "" "" "Traboulsi syndrome" "ectopia lentis" "" "0000340355" "02375" "00451695" "04670" "Familial, autosomal recessive" "" "Facial dysmorphic features were \r\nremarkable including long appearance, retrognathia, and malar hypoplasia. Anteriorly dislocated micropherophakic lenses were observed." "" "05y" "" "" "" "" "" "" "Traboulsi syndrome" "ectopia lentis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000376719" "00375522" "1" "01807" "01807" "2021-06-08 15:13:39" "" "" "SEQ" "DNA" "" "" "0000453297" "00451694" "1" "04670" "04670" "2024-06-30 12:09:13" "" "" "SEQ-NG" "DNA" "Peripheral Blood" "gene panel" "0000453298" "00451695" "1" "04670" "04670" "2024-06-30 12:32:32" "" "" "SEQ-NG" "DNA" "Peripheral Blood" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000453297" "ASPH" "0000453298" "ASPH" ## 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 = 89 "{{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}}" "0000246668" "0" "30" "8" "62580819" "62580819" "subst" "0.000342316" "02330" "ASPH_000010" "g.62580819A>T" "" "" "" "ASPH(NM_020164.4):c.296T>A (p.V99E), ASPH(NM_020164.5):c.296T>A (p.V99E, p.(Val99Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61668260A>T" "" "likely benign" "" "0000246696" "0" "10" "8" "62577831" "62577831" "subst" "0.00196979" "02330" "ASPH_000007" "g.62577831A>G" "" "" "" "ASPH(NM_020164.4):c.657T>C (p.N219=), ASPH(NM_020164.5):c.657T>C (p.N219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61665272A>G" "" "benign" "" "0000246726" "0" "10" "8" "62438530" "62438530" "subst" "0.983018" "02330" "ASPH_000016" "g.62438530A>G" "" "" "" "ASPH(NM_004318.4):c.1900+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61525971A>G" "" "benign" "" "0000246727" "0" "10" "8" "62550937" "62550937" "del" "0" "02330" "ASPH_000020" "g.62550937del" "" "" "" "ASPH(NM_004318.4):c.791-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61638378del" "" "benign" "" "0000246728" "0" "10" "8" "62550936" "62550936" "subst" "0" "02330" "ASPH_000004" "g.62550936A>C" "" "" "" "ASPH(NM_004318.4):c.791-14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61638377A>C" "" "benign" "" "0000246729" "0" "10" "8" "62555492" "62555492" "del" "0" "02330" "ASPH_000005" "g.62555492del" "" "" "" "ASPH(NM_004318.4):c.758-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61642933del" "" "benign" "" "0000246730" "0" "10" "8" "62557206" "62557206" "del" "0" "02330" "ASPH_000006" "g.62557206del" "" "" "" "ASPH(NM_001164750.1):c.533-5delT (p.?), ASPH(NM_004318.4):c.620-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61644647del" "" "benign" "" "0000246752" "0" "30" "8" "62594991" "62594991" "subst" "4.07561E-6" "02330" "ASPH_000013" "g.62594991A>T" "" "" "" "ASPH(NM_004318.4):c.254-1396T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61682432A>T" "" "likely benign" "" "0000254184" "0" "30" "8" "62580819" "62580819" "subst" "0.000342316" "01943" "ASPH_000010" "g.62580819A>T" "" "" "" "ASPH(NM_020164.4):c.296T>A (p.V99E), ASPH(NM_020164.5):c.296T>A (p.V99E, p.(Val99Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61668260A>T" "" "likely benign" "" "0000258380" "0" "30" "8" "62496499" "62496499" "subst" "2.67394E-5" "02330" "ASPH_000019" "g.62496499C>T" "" "" "" "ASPH(NM_004318.4):c.1062+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61583940C>T" "" "likely benign" "" "0000258381" "0" "10" "8" "62489334" "62489334" "subst" "0.0876116" "02330" "ASPH_000018" "g.62489334C>T" "" "" "" "ASPH(NM_004318.4):c.1146G>A (p.A382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61576775C>T" "" "benign" "" "0000258382" "0" "10" "8" "62465580" "62465580" "subst" "0.218135" "02330" "ASPH_000017" "g.62465580T>C" "" "" "" "ASPH(NM_004318.4):c.1626+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61553021T>C" "" "benign" "" "0000258383" "0" "10" "8" "62416074" "62416074" "subst" "0.983076" "02330" "ASPH_000001" "g.62416074G>A" "" "" "" "ASPH(NM_004318.4):c.2127-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61503515G>A" "" "benign" "" "0000258384" "0" "50" "8" "62593592" "62593592" "subst" "4.27771E-6" "02330" "ASPH_000012" "g.62593592T>C" "" "" "" "ASPH(NM_020164.5):c.215A>G (p.K72R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61681033T>C" "" "VUS" "" "0000258385" "0" "10" "8" "62596635" "62596635" "subst" "1.62696E-5" "02330" "ASPH_000014" "g.62596635G>A" "" "" "" "ASPH(NM_004318.4):c.216C>T (p.V72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61684076G>A" "" "benign" "" "0000258386" "0" "50" "8" "62593538" "62593538" "subst" "1.66299E-5" "02330" "ASPH_000011" "g.62593538T>C" "" "" "" "ASPH(NM_020164.5):c.269A>G (p.K90R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61680979T>C" "" "VUS" "" "0000258387" "0" "10" "8" "62626862" "62626862" "subst" "0.000975147" "02330" "ASPH_000015" "g.62626862C>A" "" "" "" "ASPH(NM_004318.3):c.69G>T (p.T23=), ASPH(NM_004318.4):c.69G>T (p.T23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61714303C>A" "" "benign" "" "0000258389" "0" "10" "8" "62550551" "62550551" "subst" "0.00293163" "02330" "ASPH_000002" "g.62550551G>A" "" "" "" "ASPH(NM_001164750.1):c.757C>T (p.(Pro253Ser)), ASPH(NM_004318.3):c.844C>T (p.P282S), ASPH(NM_004318.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61637992G>A" "" "benign" "" "0000263034" "0" "30" "8" "62580802" "62580802" "subst" "0.000398426" "01943" "ASPH_000009" "g.62580802T>C" "" "" "" "ASPH(NM_020164.4):c.313A>G (p.K105E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61668243T>C" "" "likely benign" "" "0000263035" "0" "30" "8" "62578047" "62578047" "subst" "1.1871E-5" "01943" "ASPH_000008" "g.62578047T>C" "" "" "" "ASPH(NM_020164.4):c.441A>G (p.K147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61665488T>C" "" "likely benign" "" "0000263036" "0" "30" "8" "62550551" "62550551" "subst" "0.00293163" "01943" "ASPH_000002" "g.62550551G>A" "" "" "" "ASPH(NM_001164750.1):c.757C>T (p.(Pro253Ser)), ASPH(NM_004318.3):c.844C>T (p.P282S), ASPH(NM_004318.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61637992G>A" "" "likely benign" "" "0000332161" "0" "30" "8" "62557206" "62557206" "del" "0" "01804" "ASPH_000006" "g.62557206del" "" "" "" "ASPH(NM_001164750.1):c.533-5delT (p.?), ASPH(NM_004318.4):c.620-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61644647del" "" "likely benign" "" "0000535181" "0" "50" "8" "62416055" "62416055" "subst" "0" "01943" "ASPH_000021" "g.62416055C>G" "" "" "" "ASPH(NM_004318.3):c.2140G>C (p.G714R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61503496C>G" "" "VUS" "" "0000535183" "0" "50" "8" "62430607" "62430607" "subst" "0" "01804" "ASPH_000023" "g.62430607C>G" "" "" "" "ASPH(NM_001164750.1):c.1889G>C (p.(Gly630Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61518048C>G" "" "VUS" "" "0000535184" "0" "50" "8" "62479852" "62479854" "del" "0" "02327" "ASPH_000024" "g.62479852_62479854del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61567293_61567295del" "" "VUS" "" "0000535185" "0" "70" "8" "62489354" "62489354" "subst" "8.12803E-6" "02327" "ASPH_000025" "g.62489354G>A" "" "" "" "ASPH(NM_004318.3):c.1126C>T (p.(Arg376*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61576795G>A" "" "likely pathogenic" "" "0000535186" "0" "30" "8" "62496539" "62496539" "subst" "0.0011273" "01943" "ASPH_000026" "g.62496539T>C" "" "" "" "ASPH(NM_004318.3):c.1026A>G (p.K342=), ASPH(NM_004318.4):c.1026A>G (p.K342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61583980T>C" "" "likely benign" "" "0000535187" "0" "30" "8" "62550551" "62550551" "subst" "0.00293163" "01804" "ASPH_000002" "g.62550551G>A" "" "" "" "ASPH(NM_001164750.1):c.757C>T (p.(Pro253Ser)), ASPH(NM_004318.3):c.844C>T (p.P282S), ASPH(NM_004318.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61637992G>A" "" "likely benign" "" "0000535188" "0" "30" "8" "62550925" "62550925" "subst" "0" "01804" "ASPH_000027" "g.62550925A>G" "" "" "" "ASPH(NM_001164750.1):c.704-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61638366A>G" "" "likely benign" "" "0000535189" "0" "10" "8" "62550937" "62550937" "dup" "0" "02330" "ASPH_000028" "g.62550937dup" "" "" "" "ASPH(NM_001164750.1):c.704-3dup (p.?), ASPH(NM_004318.4):c.791-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61638378dup" "" "benign" "" "0000535190" "0" "30" "8" "62550937" "62550937" "dup" "0" "01804" "ASPH_000028" "g.62550937dup" "" "" "" "ASPH(NM_001164750.1):c.704-3dup (p.?), ASPH(NM_004318.4):c.791-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61638378dup" "" "likely benign" "" "0000535191" "0" "30" "8" "62555492" "62555492" "dup" "0" "01804" "ASPH_000029" "g.62555492dup" "" "" "" "ASPH(NM_001164750.1):c.671-4dupT (p.?), ASPH(NM_004318.3):c.758-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61642933dup" "" "likely benign" "" "0000535193" "0" "30" "8" "62577838" "62577838" "subst" "0.000852878" "02330" "ASPH_000031" "g.62577838T>C" "" "" "" "ASPH(NM_020164.4):c.650A>G (p.K217R), ASPH(NM_020164.5):c.650A>G (p.K217R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61665279T>C" "" "likely benign" "" "0000535194" "0" "50" "8" "62577838" "62577838" "subst" "0.000852878" "01943" "ASPH_000031" "g.62577838T>C" "" "" "" "ASPH(NM_020164.4):c.650A>G (p.K217R), ASPH(NM_020164.5):c.650A>G (p.K217R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61665279T>C" "" "VUS" "" "0000535195" "0" "30" "8" "62580799" "62580799" "subst" "0.000123256" "01943" "ASPH_000032" "g.62580799C>T" "" "" "" "ASPH(NM_020164.4):c.316G>A (p.A106T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61668240C>T" "" "likely benign" "" "0000535196" "0" "30" "8" "62580816" "62580817" "ins" "0.000399779" "02330" "ASPH_000033" "g.62580816_62580817insGTC" "" "" "" "ASPH(NM_020164.4):c.298_299insGAC (p.A100delinsGP), ASPH(NM_020164.5):c.298_299insGAC (p.A100delinsGP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61668257_61668258insGTC" "" "likely benign" "" "0000535197" "0" "30" "8" "62580816" "62580817" "ins" "0.000399779" "01943" "ASPH_000033" "g.62580816_62580817insGTC" "" "" "" "ASPH(NM_020164.4):c.298_299insGAC (p.A100delinsGP), ASPH(NM_020164.5):c.298_299insGAC (p.A100delinsGP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61668257_61668258insGTC" "" "likely benign" "" "0000535198" "0" "30" "8" "62580820" "62580821" "ins" "0.000333792" "02330" "ASPH_000034" "g.62580820_62580821insTGGGA" "" "" "" "ASPH(NM_020164.4):c.294_295insTCCCA (p.V99Sfs*3), ASPH(NM_020164.5):c.294_295insTCCCA (p.V99Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61668261_61668262insTGGGA" "" "likely benign" "" "0000535199" "0" "30" "8" "62580820" "62580821" "ins" "0.000333792" "01943" "ASPH_000034" "g.62580820_62580821insTGGGA" "" "" "" "ASPH(NM_020164.4):c.294_295insTCCCA (p.V99Sfs*3), ASPH(NM_020164.5):c.294_295insTCCCA (p.V99Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61668261_61668262insTGGGA" "" "likely benign" "" "0000535200" "0" "10" "8" "62588740" "62588742" "dup" "0" "01943" "ASPH_000035" "g.62588740_62588742dup" "" "" "" "ASPH(NM_001164756.1):c.520_522dupGAA (p.E174dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61676181_61676183dup" "" "benign" "" "0000535201" "0" "30" "8" "62626870" "62626870" "subst" "0" "01804" "ASPH_000036" "g.62626870C>T" "" "" "" "ASPH(NM_001164754.1):c.61G>A (p.(Gly21Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61714311C>T" "" "likely benign" "" "0000611692" "0" "50" "8" "62626889" "62626906" "dup" "0" "01804" "ASPH_000039" "g.62626889_62626906dup" "" "" "" "ASPH(NM_001164754.1):c.51_52insAACAGCAGCAGCAGCGGC (p.(Asn12_Gly17dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61714330_61714347dup" "" "VUS" "" "0000622084" "0" "30" "8" "62559361" "62559361" "subst" "2.43869E-5" "01943" "ASPH_000038" "g.62559361C>T" "" "" "" "ASPH(NM_004318.3):c.567G>A (p.A189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61646802C>T" "" "likely benign" "" "0000656140" "0" "50" "8" "62438574" "62438574" "subst" "0.000109826" "01943" "ASPH_000040" "g.62438574T>C" "" "" "" "ASPH(NM_004318.3):c.1862A>G (p.E621G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61526015T>C" "" "VUS" "" "0000656141" "0" "50" "8" "62595024" "62595024" "subst" "0.000211889" "01943" "ASPH_000041" "g.62595024C>T" "" "" "" "ASPH(NM_032468.4):c.185G>A (p.R62H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61682465C>T" "" "VUS" "" "0000678415" "0" "10" "8" "62550936" "62550937" "dup" "0" "01943" "ASPH_000042" "g.62550936_62550937dup" "" "" "" "ASPH(NM_004318.3):c.791-4_791-3dupTT, ASPH(NM_004318.4):c.791-4_791-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678416" "0" "10" "8" "62555492" "62555492" "dup" "0" "01943" "ASPH_000029" "g.62555492dup" "" "" "" "ASPH(NM_001164750.1):c.671-4dupT (p.?), ASPH(NM_004318.3):c.758-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678417" "0" "30" "8" "62559353" "62559353" "subst" "0" "01943" "ASPH_000043" "g.62559353A>G" "" "" "" "ASPH(NM_004318.3):c.575T>C (p.V192A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678418" "0" "50" "8" "62577852" "62577852" "subst" "8.15914E-6" "02325" "ASPH_000044" "g.62577852A>C" "" "" "" "ASPH(NM_020164.5):c.636T>G (p.Y212*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678419" "0" "30" "8" "62578029" "62578029" "subst" "0" "01943" "ASPH_000045" "g.62578029T>C" "" "" "" "ASPH(NM_020164.4):c.459A>G (p.L153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678420" "0" "30" "8" "62596704" "62596704" "subst" "0.000695801" "01943" "ASPH_000046" "g.62596704G>A" "" "" "" "ASPH(NM_004318.3):c.147C>T (p.L49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690313" "0" "50" "8" "62479753" "62479753" "subst" "0.000142414" "01943" "ASPH_000047" "g.62479753C>T" "" "" "" "ASPH(NM_004318.3):c.1274G>A (p.R425H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722067" "0" "50" "8" "62415992" "62415992" "subst" "2.47926E-5" "01943" "ASPH_000048" "g.62415992G>A" "" "" "" "ASPH(NM_004318.3):c.2203C>T (p.R735W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722068" "0" "90" "8" "62475365" "62475365" "del" "0" "01943" "ASPH_000049" "g.62475365del" "" "" "" "ASPH(NM_004318.3):c.1375delG (p.D459Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722069" "0" "30" "8" "62563658" "62563658" "subst" "0.000594167" "01943" "ASPH_000050" "g.62563658T>G" "" "" "" "ASPH(NM_004318.3):c.441A>C (p.A147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000788695" "3" "90" "8" "62416012" "62416014" "dup" "0" "01807" "ASPH_000051" "g.62416012_62416014dup" "" "" "" "Val727_Trp728insTer" "" "Unknown" "" "" "0" "" "" ".61503453_61503455dup" "" "pathogenic" "" "0000803718" "0" "30" "8" "62460729" "62460729" "subst" "1.21999E-5" "01943" "ASPH_000052" "g.62460729G>A" "" "" "" "ASPH(NM_004318.3):c.1665C>T (p.H555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803719" "0" "50" "8" "62563618" "62563618" "subst" "0.000207999" "01943" "ASPH_000053" "g.62563618C>T" "" "" "" "ASPH(NM_004318.3):c.481G>A (p.A161T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803720" "0" "30" "8" "62577831" "62577831" "subst" "0.00196979" "01943" "ASPH_000007" "g.62577831A>G" "" "" "" "ASPH(NM_020164.4):c.657T>C (p.N219=), ASPH(NM_020164.5):c.657T>C (p.N219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803721" "0" "30" "8" "62626821" "62626821" "subst" "0" "01943" "ASPH_000054" "g.62626821C>T" "" "" "" "ASPH(NM_004318.3):c.103+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851982" "0" "30" "8" "62566179" "62566179" "subst" "8.54673E-5" "01943" "ASPH_000058" "g.62566179T>C" "" "" "" "ASPH(NM_004318.3):c.363A>G (p.P121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851983" "0" "50" "8" "62566184" "62566184" "subst" "0" "01943" "ASPH_000059" "g.62566184G>A" "" "" "" "ASPH(NM_004318.3):c.358C>T (p.P120S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861269" "0" "50" "8" "62438668" "62438668" "subst" "2.44339E-5" "01943" "ASPH_000055" "g.62438668A>C" "" "" "" "ASPH(NM_004318.3):c.1768T>G (p.L590V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861270" "0" "50" "8" "62479820" "62479820" "subst" "8.53159E-5" "01943" "ASPH_000056" "g.62479820C>T" "" "" "" "ASPH(NM_004318.3):c.1207G>A (p.E403K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861271" "0" "30" "8" "62559410" "62559410" "del" "0.00126449" "01804" "ASPH_000057" "g.62559410del" "" "" "" "ASPH(NM_001164750.1):c.431delA (p.(Asp144Valfs*20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861272" "0" "30" "8" "62626862" "62626862" "subst" "0.000975147" "01943" "ASPH_000015" "g.62626862C>A" "" "" "" "ASPH(NM_004318.3):c.69G>T (p.T23=), ASPH(NM_004318.4):c.69G>T (p.T23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888428" "0" "70" "8" "62460768" "62460768" "subst" "0" "02329" "ASPH_000060" "g.62460768C>T" "" "" "" "ASPH(NM_004318.4):c.1627-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888429" "0" "70" "8" "62465649" "62465650" "del" "0" "02329" "ASPH_000061" "g.62465649_62465650del" "" "" "" "ASPH(NM_004318.4):c.1566_1567delTG (p.D523*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924899" "0" "10" "8" "62557164" "62557164" "subst" "0.00793623" "02329" "ASPH_000030" "g.62557164T>C" "" "" "" "ASPH(NM_004318.4):c.647A>G (p.E216G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978257" "0" "70" "8" "62460768" "62460768" "subst" "0" "01804" "ASPH_000060" "g.62460768C>T" "" "" "" "ASPH(NM_004318.4):c.1627-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978258" "0" "50" "8" "62479729" "62479729" "subst" "7.34874E-5" "01804" "ASPH_000062" "g.62479729A>C" "" "" "" "ASPH(NM_004318.4):c.1298T>G (p.(Leu433Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978259" "0" "50" "8" "62550936" "62550937" "dup" "0" "01804" "ASPH_000042" "g.62550936_62550937dup" "" "" "" "ASPH(NM_004318.3):c.791-4_791-3dupTT, ASPH(NM_004318.4):c.791-4_791-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978260" "0" "50" "8" "62596612" "62596612" "subst" "2.43978E-5" "01804" "ASPH_000063" "g.62596612T>C" "" "" "" "ASPH(NM_004318.4):c.239A>G (p.(Tyr80Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987878" "3" "70" "8" "62430138" "62430138" "subst" "0" "04670" "ASPH_000064" "g.62430138C>T" "" "{PMID:Chen 2024:38788814}, {DOI:Chen 2024:10.1016/j.gene.2024.148600}" "" "" "" "Germline" "" "" "0" "" "" "g.61517579C>T" "" "likely pathogenic (recessive)" "" "0000987879" "3" "90" "8" "62489354" "62489354" "subst" "8.12803E-6" "04670" "ASPH_000025" "g.62489354G>A" "" "{PMID:Chen 2024:38788814}, {DOI:Chen 2024:10.1016/j.gene.2024.148600}" "" "" "" "Germline" "" "" "0" "" "" "g.61576795G>A" "" "pathogenic (recessive)" "ACMG" "0000987880" "0" "90" "8" "62489354" "62489354" "subst" "8.12803E-6" "04670" "ASPH_000025" "g.62489354G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000997284" "0" "90" "8" "62415991" "62415991" "subst" "1.65149E-5" "01804" "ASPH_000065" "g.62415991C>T" "" "" "" "ASPH(NM_004318.3):c.2204G>A (p.(Arg735Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997285" "0" "70" "8" "62489354" "62489354" "subst" "8.12803E-6" "01804" "ASPH_000025" "g.62489354G>A" "" "" "" "ASPH(NM_004318.3):c.1126C>T (p.(Arg376*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997286" "0" "30" "8" "62588657" "62588657" "subst" "0" "01804" "ASPH_000066" "g.62588657T>G" "" "" "" "ASPH(NM_001164756.1):c.589A>C (p.(Ile197Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997287" "0" "30" "8" "62626855" "62626855" "subst" "0" "01804" "ASPH_000067" "g.62626855C>G" "" "" "" "ASPH(NM_004318.3):c.76G>C (p.(Gly26Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014461" "0" "90" "8" "62430095" "62430095" "del" "0" "02329" "ASPH_000068" "g.62430095del" "" "" "" "ASPH(NM_004318.4):c.2118delC (p.N706Kfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025539" "0" "10" "8" "62460787" "62460787" "del" "0.00214342" "02329" "ASPH_000069" "g.62460787del" "" "" "" "ASPH(NM_004318.4):c.1627-20delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025540" "0" "30" "8" "62496539" "62496539" "subst" "0.0011273" "02329" "ASPH_000026" "g.62496539T>C" "" "" "" "ASPH(NM_004318.3):c.1026A>G (p.K342=), ASPH(NM_004318.4):c.1026A>G (p.K342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025541" "0" "10" "8" "62550551" "62550551" "subst" "0.00293163" "02329" "ASPH_000002" "g.62550551G>A" "" "" "" "ASPH(NM_001164750.1):c.757C>T (p.(Pro253Ser)), ASPH(NM_004318.3):c.844C>T (p.P282S), ASPH(NM_004318.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037015" "0" "70" "8" "62430095" "62430095" "del" "0" "02327" "ASPH_000068" "g.62430095del" "" "" "" "ASPH(NM_004318.4):c.2118delC (p.N706Kfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037016" "0" "70" "8" "62550509" "62550509" "subst" "0" "01804" "ASPH_000070" "g.62550509C>A" "" "" "" "ASPH(NM_004318.4):c.886G>T (p.(Glu296*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037017" "0" "30" "8" "62580794" "62580794" "subst" "8.23676E-6" "01804" "ASPH_000071" "g.62580794T>C" "" "" "" "ASPH(NM_020164.5):c.321A>G (p.(Lys107=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037018" "0" "30" "8" "62580819" "62580819" "subst" "0.000342316" "01804" "ASPH_000010" "g.62580819A>T" "" "" "" "ASPH(NM_020164.4):c.296T>A (p.V99E), ASPH(NM_020164.5):c.296T>A (p.V99E, p.(Val99Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037019" "0" "50" "8" "62596603" "62596603" "subst" "0.000117978" "01804" "ASPH_000072" "g.62596603A>G" "" "" "" "ASPH(NM_004318.4):c.248T>C (p.(Val83Ala))" "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 ASPH ## Count = 89 "{{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}}" "0000246668" "00002992" "30" "322" "12708" "322" "12708" "c.322+12708T>A" "r.(=)" "p.(=)" "" "0000246696" "00002992" "10" "323" "-11612" "323" "-11612" "c.323-11612T>C" "r.(=)" "p.(=)" "" "0000246726" "00002992" "10" "1900" "6" "1900" "6" "c.1900+6T>C" "r.(=)" "p.(=)" "" "0000246727" "00002992" "10" "791" "-3" "791" "-3" "c.791-3del" "r.spl?" "p.?" "" "0000246728" "00002992" "10" "791" "-14" "791" "-14" "c.791-14T>G" "r.(=)" "p.(=)" "" "0000246729" "00002992" "10" "758" "-4" "758" "-4" "c.758-4del" "r.spl?" "p.?" "" "0000246730" "00002992" "10" "620" "-5" "620" "-5" "c.620-5del" "r.spl?" "p.?" "" "0000246752" "00002992" "30" "254" "-1396" "254" "-1396" "c.254-1396T>A" "r.(=)" "p.(=)" "" "0000254184" "00002992" "30" "322" "12708" "322" "12708" "c.322+12708T>A" "r.(=)" "p.(=)" "" "0000258380" "00002992" "30" "1062" "4" "1062" "4" "c.1062+4G>A" "r.spl?" "p.?" "" "0000258381" "00002992" "10" "1146" "0" "1146" "0" "c.1146G>A" "r.(?)" "p.(Ala382=)" "" "0000258382" "00002992" "10" "1626" "10" "1626" "10" "c.1626+10A>G" "r.(=)" "p.(=)" "" "0000258383" "00002992" "10" "2127" "-6" "2127" "-6" "c.2127-6C>T" "r.(=)" "p.(=)" "" "0000258384" "00002992" "50" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(Lys86Arg)" "" "0000258385" "00002992" "10" "216" "0" "216" "0" "c.216C>T" "r.(?)" "p.(Val72=)" "" "0000258386" "00002992" "50" "311" "0" "311" "0" "c.311A>G" "r.(?)" "p.(Lys104Arg)" "" "0000258387" "00002992" "10" "69" "0" "69" "0" "c.69G>T" "r.(?)" "p.(Thr23=)" "" "0000258389" "00002992" "10" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Pro282Ser)" "" "0000263034" "00002992" "30" "322" "12725" "322" "12725" "c.322+12725A>G" "r.(=)" "p.(=)" "" "0000263035" "00002992" "30" "323" "-11828" "323" "-11828" "c.323-11828A>G" "r.(=)" "p.(=)" "" "0000263036" "00002992" "30" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Pro282Ser)" "" "0000332161" "00002992" "30" "620" "-5" "620" "-5" "c.620-5del" "r.spl?" "p.?" "" "0000535181" "00002992" "50" "2140" "0" "2140" "0" "c.2140G>C" "r.(?)" "p.(Gly714Arg)" "" "0000535183" "00002992" "50" "1976" "0" "1976" "0" "c.1976G>C" "r.(?)" "p.(Gly659Ala)" "" "0000535184" "00002992" "50" "1176" "0" "1178" "0" "c.1176_1178del" "r.(?)" "p.(Arg393del)" "" "0000535185" "00002992" "70" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Ter)" "" "0000535186" "00002992" "30" "1026" "0" "1026" "0" "c.1026A>G" "r.(?)" "p.(Lys342=)" "" "0000535187" "00002992" "30" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Pro282Ser)" "" "0000535188" "00002992" "30" "791" "-3" "791" "-3" "c.791-3T>C" "r.spl?" "p.?" "" "0000535189" "00002992" "10" "791" "-3" "791" "-3" "c.791-3dup" "r.spl?" "p.?" "" "0000535190" "00002992" "30" "791" "-3" "791" "-3" "c.791-3dup" "r.spl?" "p.?" "" "0000535191" "00002992" "30" "758" "-4" "758" "-4" "c.758-4dup" "r.spl?" "p.?" "" "0000535193" "00002992" "30" "323" "-11619" "323" "-11619" "c.323-11619A>G" "r.(=)" "p.(=)" "" "0000535194" "00002992" "50" "323" "-11619" "323" "-11619" "c.323-11619A>G" "r.(=)" "p.(=)" "" "0000535195" "00002992" "30" "322" "12728" "322" "12728" "c.322+12728G>A" "r.(=)" "p.(=)" "" "0000535196" "00002992" "30" "322" "12710" "322" "12711" "c.322+12710_322+12711insGAC" "r.(=)" "p.(=)" "" "0000535197" "00002992" "30" "322" "12710" "322" "12711" "c.322+12710_322+12711insGAC" "r.(=)" "p.(=)" "" "0000535198" "00002992" "30" "322" "12706" "322" "12707" "c.322+12706_322+12707insTCCCA" "r.(=)" "p.(=)" "" "0000535199" "00002992" "30" "322" "12706" "322" "12707" "c.322+12706_322+12707insTCCCA" "r.(=)" "p.(=)" "" "0000535200" "00002992" "10" "322" "4801" "322" "4803" "c.322+4801_322+4803dup" "r.(=)" "p.(=)" "" "0000535201" "00002992" "30" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Gly21Ser)" "" "0000611692" "00002992" "50" "34" "0" "51" "0" "c.34_51dup" "r.(?)" "p.(Asn12_Gly17dup)" "" "0000622084" "00002992" "30" "567" "0" "567" "0" "c.567G>A" "r.(?)" "p.(Ala189=)" "" "0000656140" "00002992" "50" "1862" "0" "1862" "0" "c.1862A>G" "r.(?)" "p.(Glu621Gly)" "" "0000656141" "00002992" "50" "254" "-1429" "254" "-1429" "c.254-1429G>A" "r.(=)" "p.(=)" "" "0000678415" "00002992" "10" "791" "-4" "791" "-3" "c.791-4_791-3dup" "r.spl?" "p.?" "" "0000678416" "00002992" "10" "758" "-4" "758" "-4" "c.758-4dup" "r.spl?" "p.?" "" "0000678417" "00002992" "30" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Val192Ala)" "" "0000678418" "00002992" "50" "323" "-11633" "323" "-11633" "c.323-11633T>G" "r.(=)" "p.(=)" "" "0000678419" "00002992" "30" "323" "-11810" "323" "-11810" "c.323-11810A>G" "r.(=)" "p.(=)" "" "0000678420" "00002992" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Leu49=)" "" "0000690313" "00002992" "50" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425His)" "" "0000722067" "00002992" "50" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Trp)" "" "0000722068" "00002992" "90" "1375" "0" "1375" "0" "c.1375del" "r.(?)" "p.(Asp459Thrfs*8)" "" "0000722069" "00002992" "30" "441" "0" "441" "0" "c.441A>C" "r.(?)" "p.(Ala147=)" "" "0000788695" "00002992" "90" "2181" "0" "2183" "0" "c.2181_2183dup" "r.(?)" "p.(Trp728*)" "" "0000803718" "00002992" "30" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(His555=)" "" "0000803719" "00002992" "50" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Ala161Thr)" "" "0000803720" "00002992" "30" "323" "-11612" "323" "-11612" "c.323-11612T>C" "r.(=)" "p.(=)" "" "0000803721" "00002992" "30" "103" "7" "103" "7" "c.103+7G>A" "r.(=)" "p.(=)" "" "0000851982" "00002992" "30" "363" "0" "363" "0" "c.363A>G" "r.(?)" "p.(Pro121=)" "" "0000851983" "00002992" "50" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Pro120Ser)" "" "0000861269" "00002992" "50" "1768" "0" "1768" "0" "c.1768T>G" "r.(?)" "p.(Leu590Val)" "" "0000861270" "00002992" "50" "1207" "0" "1207" "0" "c.1207G>A" "r.(?)" "p.(Glu403Lys)" "" "0000861271" "00002992" "30" "518" "0" "518" "0" "c.518del" "r.(?)" "p.(Asp173Valfs*20)" "" "0000861272" "00002992" "30" "69" "0" "69" "0" "c.69G>T" "r.(?)" "p.(Thr23=)" "" "0000888428" "00002992" "70" "1627" "-1" "1627" "-1" "c.1627-1G>A" "r.spl?" "p.?" "" "0000888429" "00002992" "70" "1566" "0" "1567" "0" "c.1566_1567del" "r.(?)" "p.(Asp523*)" "" "0000924899" "00002992" "10" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Glu216Gly)" "" "0000978257" "00002992" "70" "1627" "-1" "1627" "-1" "c.1627-1G>A" "r.spl?" "p.?" "" "0000978258" "00002992" "50" "1298" "0" "1298" "0" "c.1298T>G" "r.(?)" "p.(Leu433Arg)" "" "0000978259" "00002992" "50" "791" "-4" "791" "-3" "c.791-4_791-3dup" "r.spl?" "p.?" "" "0000978260" "00002992" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Tyr80Cys)" "" "0000987878" "00002992" "70" "2075" "0" "2075" "0" "c.2075G>A" "r.(?)" "p.(Gly692Asp)" "" "0000987879" "00002992" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376*)" "" "0000987880" "00002992" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376*)" "" "0000997284" "00002992" "90" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Arg735Gln)" "" "0000997285" "00002992" "70" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Ter)" "" "0000997286" "00002992" "30" "322" "4870" "322" "4870" "c.322+4870A>C" "r.(=)" "p.(=)" "" "0000997287" "00002992" "30" "76" "0" "76" "0" "c.76G>C" "r.(?)" "p.(Gly26Arg)" "" "0001014461" "00002992" "90" "2118" "0" "2118" "0" "c.2118del" "r.(?)" "p.(Asn706Lysfs*31)" "" "0001025539" "00002992" "10" "1627" "-20" "1627" "-20" "c.1627-20del" "r.(=)" "p.(=)" "" "0001025540" "00002992" "30" "1026" "0" "1026" "0" "c.1026A>G" "r.(?)" "p.(Lys342=)" "" "0001025541" "00002992" "10" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Pro282Ser)" "" "0001037015" "00002992" "70" "2118" "0" "2118" "0" "c.2118del" "r.(?)" "p.(Asn706Lysfs*31)" "" "0001037016" "00002992" "70" "886" "0" "886" "0" "c.886G>T" "r.(?)" "p.(Glu296*)" "" "0001037017" "00002992" "30" "322" "12733" "322" "12733" "c.322+12733A>G" "r.(=)" "p.(=)" "" "0001037018" "00002992" "30" "322" "12708" "322" "12708" "c.322+12708T>A" "r.(=)" "p.(=)" "" "0001037019" "00002992" "50" "248" "0" "248" "0" "c.248T>C" "r.(?)" "p.(Val83Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000376719" "0000788695" "0000453297" "0000987878" "0000453298" "0000987879" "0000453298" "0000987880"