### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PHLDB1) # 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}}" "PHLDB1" "pleckstrin homology-like domain, family B, member 1" "11" "q23.3" "unknown" "NC_000011.9" "UD_136021820253" "" "https://www.LOVD.nl/PHLDB1" "" "1" "23697" "23187" "612834" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PHLDB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-07-24 16:43:33" "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}}" "00025842" "PHLDB1" "transcript variant 2" "002" "NM_001144758.2" "" "NP_001138230.1" "" "" "" "-130" "5349" "4134" "118478306" "118528748" "00006" "2023-07-24 16:41:30" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PHLDB1" "05296" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00435419" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2023:36543534}" "4-generation family, 3 affected (sister, twin brothers), unaffected heterozygous first cousin parents" "F" "" "Turkey" "" "0" "" "" "" "Fam1PatIV1" "00435420" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2023:36543534}" "twin brother" "M" "" "Turkey" "" "0" "" "" "" "Fam1PatIV2" "00435421" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2023:36543534}" "twin brother" "M" "" "Turkey" "" "0" "" "" "" "Fam1PatIV3" "00435422" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2023:36543534}" "4-generation family, 2 affected (sister/brother), unaffected heterozygous first cousin parents" "F" "" "Turkey" "" "0" "" "" "" "Fam2PatIV1" "00435423" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2023:36543534}" "brother" "M" "" "Turkey" "" "0" "" "" "" "Fam2PatIV2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00435419" "05296" "00435420" "05296" "00435421" "05296" "00435422" "05296" "00435423" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05296 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000325613" "05296" "00435419" "00006" "Familial, autosomal recessive" "12y6m" "height SD-2.2; blue sclerae; broadening of wrist; no torticollis; no hip dislocation; no short stature; bowing on lower extremities; 6m15d-initial radiological findings; generalised osteopaenia; severe platyspondyly; shallow acetabulum; enlarged proximal metaphysis femur with medial part beak-shaped; cupping, irregular, wide metaphysis lower limb bones; cortical bone erosion and femoral new bone formation; large femoral head; 3m-head control, 16m-sit, 30m-walk; speech on time; good school performance; 14m-fracture left femur, 22m-left femur, 5y-right femur; white sclerae; increased lumbar lordosis; mild genu valgum; truncal obesity; insulin resistance; acanthosis nigricans; osteopaenia; no platyspondyly; mild femoral bowing; coxa vara" "6m15d" "" "" "" "" "" "" "osteogenesis imperfecta" "0000325614" "05296" "00435420" "00006" "Familial, autosomal recessive" "7y6m" "birth height SD-0.9; height SD-1.3; blue sclerae; broadening of wrist; no torticollis; no hip dislocation; no short stature; bowing on lower extremities; 4m15d-initial radiological findings; generalised osteopaenia; severe platyspondyly; shallow acetabulum; enlarged proximal metaphysis femur with medial part beak-shaped; cupping, irregular, wide metaphysis lower limb bones; cortical bone erosion and femoral new bone formation; no large femoral head; 2m-head control, 12m-sit, 27m-walk; speech on time; good school performance; no fractures; white sclerae; increased lumbar lordosis; mild genu valgum; truncal obesity; no insulin resistance; acanthosis nigricans; osteopaenia; mild platyspondyly; mild femoral bowing; coxa vara" "4m15d" "" "" "" "" "" "" "osteogenesis imperfecta" "0000325615" "05296" "00435421" "00006" "Familial, autosomal recessive" "7y6m" "birth height SD-0.9; height SD-1.3; blue sclerae; broadening of wrist; no torticollis; no hip dislocation; no short stature; bowing on lower extremities; 4m15d-initial radiological findings; generalised osteopaenia; severe platyspondyly; shallow acetabulum; enlarged proximal metaphysis femur with medial part beak-shaped; cupping, irregular, wide metaphysis lower limb bones; cortical bone erosion and femoral new bone formation; no large femoral head; 2m-head control, 12m-sit, 27m-walk; speech on time; good school performance; no fractures; white sclerae; increased lumbar lordosis; mild genu valgum; truncal obesity; no insulin resistance; acanthosis nigricans; osteopaenia; mild platyspondyly; mild femoral bowing; coxa vara" "4m15d" "" "" "" "" "" "" "osteogenesis imperfecta" "0000325616" "05296" "00435422" "00006" "Familial, autosomal recessive" "8y" "birth height SD-0.7; height SD-2; grey sclerae; broadening of wrist; no torticollis; hip dislocation; short stature; bowing on lower extremities; 7m15d-initial radiological findings; generalised osteopaenia; shallow acetabulum; enlarged proximal metaphysis femur with medial part beak-shaped; cupping, irregular, wide metaphysis lower limb bones; cortical bone erosion and femoral new bone formation; large femoral head; 2m-head control, 9m-sit, 18m-walk; speech on time; good school performance; 3y9m-fracture right femur, 4y6m-left femur, 5y-right femur; grey sclerae; increased lumbar lordosis; mild genu valgum; truncal obesity; no insulin resistance; acanthosis nigricans; osteopaenia; mild platyspondyly; mild femoral bowing; coxa vara" "27m" "" "" "" "" "" "" "osteogenesis imperfecta" "0000325617" "05296" "00435423" "00006" "Familial, autosomal recessive" "6y6m" "birth height SD-0.9; height SD-2.5; blue sclerae; broadening of wrist; torticollis; no hip dislocation; short stature; bowing on lower extremities; 6m-initial radiological findings; generalised osteopaenia; severe platyspondyly; shallow acetabulum; enlarged proximal metaphysis femur with medial part beak-shaped; cupping, irregular, wide metaphysis lower limb bones; cortical bone erosion and femoral new bone formation; large femoral head; 3m-head control, 8m-sit, 23m-walk; speech on time; good school performance; no fractures; grey sclerae; increased lumbar lordosis; mild genu valgum; truncal obesity; no insulin resistance; acanthosis nigricans; osteopaenia; mild platyspondyly; mild femoral bowing; coxa vara" "6m" "" "" "" "" "" "" "osteogenesis imperfecta" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000436899" "00435419" "1" "00006" "00006" "2023-07-24 18:55:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436900" "00435420" "1" "00006" "00006" "2023-07-24 18:55:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436901" "00435421" "1" "00006" "00006" "2023-07-24 18:55:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436902" "00435422" "1" "00006" "00006" "2023-07-24 18:55:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436903" "00435423" "1" "00006" "00006" "2023-07-24 18:55:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 33 "{{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}}" "0000249150" "0" "10" "11" "118529595" "118529595" "subst" "0.346721" "02325" "TREH_000008" "g.118529595A>G" "" "" "" "TREH(NM_007180.3):c.1545+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118658886A>G" "" "benign" "" "0000256648" "0" "50" "11" "118495761" "118495761" "subst" "0" "01943" "PHLDB1_000001" "g.118495761A>G" "" "" "" "PHLDB1(NM_015157.3):c.467A>G (p.Y156C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118625045A>G" "" "VUS" "" "0000305553" "0" "30" "11" "118498951" "118498951" "subst" "0.000113913" "01943" "PHLDB1_000002" "g.118498951C>T" "" "" "" "PHLDB1(NM_015157.3):c.1412C>T (p.P471L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118628235C>T" "" "likely benign" "" "0000312034" "0" "10" "11" "118529078" "118529078" "subst" "0.999983" "02325" "TREH_000001" "g.118529078G>C" "" "" "" "TREH(NM_007180.3):c.1672C>G (p.P558A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118658369=" "" "benign" "" "0000312035" "0" "10" "11" "118529069" "118529069" "subst" "1" "02325" "TREH_000003" "g.118529069G>C" "" "" "" "TREH(NM_007180.3):c.1681C>G (p.P561A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118658360=" "" "benign" "" "0000312037" "0" "10" "11" "118529017" "118529017" "subst" "0.999941" "02325" "TREH_000004" "g.118529017T>G" "" "" "" "TREH(NM_007180.3):c.1734A>C (p.L578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118658307=" "" "benign" "" "0000322534" "0" "50" "11" "118516453" "118516453" "subst" "0.0044356" "01804" "PHLDB1_000003" "g.118516453C>T" "" "" "" "PHLDB1(NM_001144758.2):c.3417C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118645735C>T" "" "VUS" "" "0000322535" "0" "50" "11" "118518751" "118518751" "subst" "0.00438927" "01804" "PHLDB1_000004" "g.118518751G>A" "" "" "" "PHLDB1(NM_001144758.2):c.3613G>A (p.(Val1205Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118648035G>A" "" "VUS" "" "0000542616" "0" "50" "11" "118499073" "118499073" "subst" "8.37949E-5" "01943" "PHLDB1_000005" "g.118499073C>T" "" "" "" "PHLDB1(NM_015157.3):c.1534C>T (p.R512W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118628357C>T" "" "VUS" "" "0000542617" "0" "30" "11" "118513029" "118513029" "subst" "0" "01943" "PHLDB1_000006" "g.118513029G>A" "" "" "" "PHLDB1(NM_015157.3):c.2794G>A (p.A932T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118642311G>A" "" "likely benign" "" "0000542618" "0" "10" "11" "118529044" "118529045" "ins" "0.999863" "02325" "TREH_000006" "g.118529044_118529045insG" "" "" "" "TREH(NM_007180.3):c.1706dupC (p.A570Gfs*66)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118658335dup" "" "benign" "" "0000542619" "0" "90" "11" "118529613" "118529613" "subst" "7.71799E-5" "01943" "TREH_000009" "g.118529613C>A" "" "" "" "TREH(NM_007180.2):c.1545+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118658904C>A" "" "pathogenic" "" "0000622564" "0" "30" "11" "118529689" "118529689" "subst" "3.24965E-5" "01943" "TREH_000010" "g.118529689C>T" "" "" "" "TREH(NM_007180.2):c.1470G>A (p.V490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118658980C>T" "" "likely benign" "" "0000622565" "0" "30" "11" "118530637" "118530637" "subst" "0.000442408" "01943" "TREH_000011" "g.118530637C>T" "" "" "" "TREH(NM_007180.2):c.1139G>A (p.R380Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118659928C>T" "" "likely benign" "" "0000690957" "0" "30" "11" "118529416" "118529416" "subst" "8.76978E-5" "01943" "TREH_000012" "g.118529416G>A" "" "" "" "TREH(NM_007180.2):c.1572C>T (p.P524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723253" "0" "30" "11" "118530495" "118530495" "subst" "0" "01943" "TREH_000013" "g.118530495A>G" "" "" "" "TREH(NM_007180.2):c.1281T>C (p.S427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852784" "0" "50" "11" "118531377" "118531377" "subst" "3.94481E-5" "01943" "TREH_000014" "g.118531377G>A" "" "" "" "TREH(NM_007180.2):c.973C>T (p.R325C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931579" "3" "90" "11" "118506123" "118506123" "dup" "0" "00006" "PHLDB1_000007" "g.118506123dup" "" "{PMID:Tuysuz 2023:36543534}" "" "" "0.32 decreased mRNA expression" "Germline" "" "" "0" "" "" "g.118635405dup" "" "pathogenic (recessive)" "" "0000931580" "3" "90" "11" "118506123" "118506123" "dup" "0" "00006" "PHLDB1_000007" "g.118506123dup" "" "{PMID:Tuysuz 2023:36543534}" "" "" "0.32 decreased mRNA expression" "Germline" "" "" "0" "" "" "g.118635405dup" "" "pathogenic (recessive)" "" "0000931581" "3" "90" "11" "118506123" "118506123" "dup" "0" "00006" "PHLDB1_000007" "g.118506123dup" "" "{PMID:Tuysuz 2023:36543534}" "" "" "0.32 decreased mRNA expression" "Germline" "" "" "0" "" "" "g.118635405dup" "" "pathogenic (recessive)" "" "0000931582" "3" "90" "11" "118509923" "118509926" "del" "0" "00006" "PHLDB1_000008" "g.118509923_118509926del" "" "{PMID:Tuysuz 2023:36543534}" "" "" "0.53 decreased mRNA expression" "Germline" "" "" "0" "" "" "g.118639205_118639208del" "" "pathogenic (recessive)" "" "0000931583" "3" "90" "11" "118509923" "118509926" "del" "0" "00006" "PHLDB1_000008" "g.118509923_118509926del" "" "{PMID:Tuysuz 2023:36543534}" "" "" "0.53 decreased mRNA expression" "Germline" "" "" "0" "" "" "g.118639205_118639208del" "" "pathogenic (recessive)" "" "0000998802" "0" "50" "11" "118532376" "118532376" "subst" "0.00438008" "01804" "TREH_000016" "g.118532376A>G" "" "" "" "TREH(NM_007180.2):c.587T>C (p.(Met196Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025915" "0" "30" "11" "118499300" "118499300" "subst" "0.000277187" "02329" "PHLDB1_000009" "g.118499300C>T" "" "" "" "PHLDB1(NM_001144758.3):c.1761C>T (p.D587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025916" "0" "30" "11" "118516274" "118516274" "subst" "0.00176306" "02329" "PHLDB1_000010" "g.118516274G>A" "" "" "" "PHLDB1(NM_001144758.3):c.3322G>A (p.A1108T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025917" "0" "10" "11" "118516333" "118516333" "subst" "0.00246432" "02329" "PHLDB1_000011" "g.118516333G>A" "" "" "" "PHLDB1(NM_001144758.3):c.3381G>A (p.G1127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025918" "0" "30" "11" "118516533" "118516533" "subst" "0.000517636" "02329" "PHLDB1_000012" "g.118516533T>A" "" "" "" "PHLDB1(NM_001144758.3):c.3497T>A (p.M1166K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025919" "0" "10" "11" "118518753" "118518753" "subst" "0.00838603" "02329" "PHLDB1_000013" "g.118518753C>T" "" "" "" "PHLDB1(NM_001144758.3):c.3615C>T (p.V1205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001038253" "0" "30" "11" "118499077" "118499077" "subst" "0.00271755" "01804" "PHLDB1_000014" "g.118499077G>A" "" "" "" "PHLDB1(NM_001144758.3):c.1538G>A (p.(Gly513Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038254" "0" "30" "11" "118506155" "118506155" "subst" "0.000767898" "02329" "PHLDB1_000015" "g.118506155G>A" "" "" "" "PHLDB1(NM_001144758.3):c.2424G>A (p.L808=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038255" "0" "30" "11" "118526583" "118526583" "subst" "0.0033015" "01804" "TREH_000017" "g.118526583G>A" "" "" "" "PHLDB1(NM_001144758.3):c.3974G>A (p.(Arg1325His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038256" "0" "30" "11" "118527378" "118527378" "subst" "0.000772362" "02329" "TREH_000018" "g.118527378C>G" "" "" "" "PHLDB1(NM_001144758.3):c.3994-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038257" "0" "30" "11" "118533594" "118533594" "subst" "0.00343119" "01804" "TREH_000019" "g.118533594T>C" "" "" "" "TREH(NM_007180.3):c.419A>G (p.(Lys140Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 PHLDB1 ## Count = 33 "{{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}}" "0000249150" "00025842" "10" "6196" "0" "6196" "0" "c.*2062A>G" "r.(=)" "p.(=)" "" "0000256648" "00025842" "50" "467" "0" "467" "0" "c.467A>G" "r.(?)" "p.(Tyr156Cys)" "" "0000305553" "00025842" "30" "1412" "0" "1412" "0" "c.1412C>T" "r.(?)" "p.(Pro471Leu)" "" "0000312034" "00025842" "10" "5679" "0" "5679" "0" "c.*1545G>C" "r.(=)" "p.(=)" "" "0000312035" "00025842" "10" "5670" "0" "5670" "0" "c.*1536G>C" "r.(=)" "p.(=)" "" "0000312037" "00025842" "10" "5618" "0" "5618" "0" "c.*1484T>G" "r.(=)" "p.(=)" "" "0000322534" "00025842" "50" "3417" "0" "3417" "0" "c.3417C>T" "r.(?)" "p.(Ser1139=)" "" "0000322535" "00025842" "50" "3613" "0" "3613" "0" "c.3613G>A" "r.(?)" "p.(Val1205Ile)" "" "0000542616" "00025842" "50" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Trp)" "" "0000542617" "00025842" "30" "2794" "0" "2794" "0" "c.2794G>A" "r.(?)" "p.(Ala932Thr)" "" "0000542618" "00025842" "10" "5645" "0" "5646" "0" "c.*1511_*1512insG" "r.(=)" "p.(=)" "" "0000542619" "00025842" "90" "6214" "0" "6214" "0" "c.*2080C>A" "r.(=)" "p.(=)" "" "0000622564" "00025842" "30" "6290" "0" "6290" "0" "c.*2156C>T" "r.(=)" "p.(=)" "" "0000622565" "00025842" "30" "7238" "0" "7238" "0" "c.*3104C>T" "r.(=)" "p.(=)" "" "0000690957" "00025842" "30" "6017" "0" "6017" "0" "c.*1883G>A" "r.(=)" "p.(=)" "" "0000723253" "00025842" "30" "7096" "0" "7096" "0" "c.*2962A>G" "r.(=)" "p.(=)" "" "0000852784" "00025842" "50" "7978" "0" "7978" "0" "c.*3844G>A" "r.(=)" "p.(=)" "" "0000931579" "00025842" "90" "2392" "0" "2392" "0" "c.2392dup" "r.(?)" "p.(Leu798Profs*4)" "" "0000931580" "00025842" "90" "2392" "0" "2392" "0" "c.2392dup" "r.(?)" "p.(Leu798Profs*4)" "" "0000931581" "00025842" "90" "2392" "0" "2392" "0" "c.2392dup" "r.(?)" "p.(Leu798Profs*4)" "" "0000931582" "00025842" "90" "2690" "0" "2693" "0" "c.2690_2693del" "r.(?)" "p.(Leu897Glnfs*24)" "" "0000931583" "00025842" "90" "2690" "0" "2693" "0" "c.2690_2693del" "r.(?)" "p.(Leu897Glnfs*24)" "" "0000998802" "00025842" "50" "8977" "0" "8977" "0" "c.*4843A>G" "r.(=)" "p.(=)" "" "0001025915" "00025842" "30" "1761" "0" "1761" "0" "c.1761C>T" "r.(?)" "p.(=)" "" "0001025916" "00025842" "30" "3322" "0" "3322" "0" "c.3322G>A" "r.(?)" "p.(Ala1108Thr)" "" "0001025917" "00025842" "10" "3381" "0" "3381" "0" "c.3381G>A" "r.(?)" "p.(=)" "" "0001025918" "00025842" "30" "3497" "0" "3497" "0" "c.3497T>A" "r.(?)" "p.(Met1166Lys)" "" "0001025919" "00025842" "10" "3615" "0" "3615" "0" "c.3615C>T" "r.(?)" "p.(=)" "" "0001038253" "00025842" "30" "1538" "0" "1538" "0" "c.1538G>A" "r.(?)" "p.(Gly513Asp)" "" "0001038254" "00025842" "30" "2424" "0" "2424" "0" "c.2424G>A" "r.(?)" "p.(=)" "" "0001038255" "00025842" "30" "3974" "0" "3974" "0" "c.3974G>A" "r.(?)" "p.(Arg1325His)" "" "0001038256" "00025842" "30" "3994" "-15" "3994" "-15" "c.3994-15C>G" "r.(=)" "p.(=)" "" "0001038257" "00025842" "30" "10195" "0" "10195" "0" "c.*6061T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000436899" "0000931579" "0000436900" "0000931580" "0000436901" "0000931581" "0000436902" "0000931582" "0000436903" "0000931583"