### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DISP1) # 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}}" "DISP1" "dispatched homolog 1 (Drosophila)" "1" "q42.12" "unknown" "NC_000001.10" "UD_132118879951" "" "https://www.LOVD.nl/DISP1" "" "1" "19711" "84976" "607502" "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" "2026-03-10 17:40:35" "00000" "2026-03-23 10:25:05" ## 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}}" "00006446" "DISP1" "dispatched homolog 1 (Drosophila)" "001" "NM_032890.3" "" "NP_116279.2" "" "" "" "-326" "4598" "4575" "222988431" "223179337" "" "0000-00-00 00:00:00" "" "" "00026068" "DISP1" "transcript variant 5 (removed from reference sequence) (removed from reference sequence)" "000" "NM_001377229.1" "" "NP_001364158.1" "" "" "MANE select" "-198" "4598" "4575" "1" "1" "00006" "2026-03-10 17:39:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00438" "HPE" "holoprosencephaly (HPE)" "" "236100" "" "" "" "00662" "2014-06-30 10:33:45" "00006" "2015-12-04 07:41:19" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07244" "HPE10" "holoprosencephaly, type 10" "AD;AR" "621143" "" "" "" "00006" "2026-03-10 17:37:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DISP1" "07244" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00406738" "" "" "" "2" "" "00006" "{PMID:Drissi 2022:33820834}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2Pat1" "00406740" "" "" "00406738" "1" "" "00006" "{PMID:Drissi 2022:33820834}" "sister" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2Pat2" "00471997" "" "" "" "1" "" "00006" "{PMID:Van Jaarsveld 2023:36322151}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "KDM2B_13" "00474092" "" "" "" "1" "" "00006" "{PMID:Wightman 2026:41687604}" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00406738" "00438" "00406740" "00438" "00471997" "05611" "00474092" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00438, 05611, 07244 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000299188" "00438" "00406738" "00006" "Familial, autosomal recessive" "" "see paper; ..., no hydrocephalus, severe holoprosencephaly, cyclopia, proboscis, cleft lip, congenital heart disease" "" "" "" "" "" "" "" "" "" "holoprosencephaly" "" "0000299190" "00438" "00406740" "00006" "Familial, autosomal recessive" "" "see paper; ..., hydrocephalus, severe holoprosencephaly, cyclopia, proboscis, cleft lip, congenital heart disease" "" "" "" "" "" "" "" "" "" "holoprosencephaly" "" "0000356806" "05611" "00471997" "00006" "Isolated (sporadic)" "4y" "see paper; ..., brith 40w; moderate developmental delay; mild intellectual disability; moderate speech delay; no autism; hypotonia; no seizures; MRI normal; synophrys, arched eyebrows, narrow bifrontal diameter, small oral opening; pectus excavatum, contracture left 5th finger; pulmonic stenosis, atrioseptal defects (x2), birth patent ductus arteriosus/patent foramen ovale; normal kidneys; anteriorly placed anus; 3 hemangiomas, precocious puberty; birth poor suck; feeding difficulties (G-tube fed); overgrowth" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000358892" "00198" "00474092" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "reduced cerebellar volume" "cerebellar volume" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000407985" "00406738" "1" "00006" "00006" "2022-04-04 17:47:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000407987" "00406740" "1" "00006" "00006" "2022-04-04 17:50:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473667" "00471997" "1" "00006" "00006" "2026-01-05 12:55:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000475762" "00474092" "1" "00006" "00006" "2026-03-10 17:45:54" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000475762" "DISP1" ## 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 = 38 "{{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}}" "0000267400" "0" "10" "1" "223116240" "223116240" "subst" "0.107853" "02325" "DISP1_000001" "g.223116240G>A" "" "" "" "DISP1(NM_032890.5):c.75G>A (p.P25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222942898G>A" "" "benign" "" "0000268690" "0" "50" "1" "223177297" "223177297" "subst" "1.21834E-5" "02329" "DISP1_000002" "g.223177297T>C" "" "" "" "DISP1(NM_032890.5):c.2558T>C (p.I853T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.223003955T>C" "" "VUS" "" "0000268691" "0" "50" "1" "223177867" "223177867" "subst" "1.21832E-5" "02329" "DISP1_000003" "g.223177867C>T" "" "" "" "DISP1(NM_032890.5):c.3128C>T (p.S1043L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.223004525C>T" "" "VUS" "" "0000505637" "0" "50" "1" "223176543" "223176543" "subst" "6.49889E-5" "02327" "DISP1_000004" "g.223176543C>A" "" "" "" "DISP1(NM_032890.5):c.1804C>A (p.Q602K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.223003201C>A" "" "VUS" "" "0000505638" "0" "30" "1" "223178026" "223178026" "subst" "0.00604099" "02327" "DISP1_000005" "g.223178026T>C" "" "" "" "DISP1(NM_032890.3):c.3287T>C (p.(Met1096Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.223004684T>C" "" "likely benign" "" "0000505640" "0" "50" "1" "223179296" "223179298" "del" "0" "02327" "DISP1_000007" "g.223179296_223179298del" "" "" "" "DISP1(NM_001377229.1):c.4557_4559del (p.(Leu1520del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.223005954_223005956del" "" "VUS" "" "0000605211" "0" "30" "1" "223176078" "223176078" "subst" "0" "01804" "DISP1_000008" "g.223176078C>T" "" "" "" "DISP1(NM_032890.3):c.1339C>T (p.(Pro447Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.223002736C>T" "" "likely benign" "" "0000688036" "0" "50" "1" "223176543" "223176543" "subst" "6.49889E-5" "02325" "DISP1_000004" "g.223176543C>A" "" "" "" "DISP1(NM_032890.5):c.1804C>A (p.Q602K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000844848" "1" "30" "1" "223116472" "223116472" "subst" "0.179062" "00006" "DISP1_000009" "g.223116472G>A" "" "{PMID:Drissi 2022:33820834}" "" "" "" "Germline" "" "rs2609383" "0" "" "" "" "" "likely benign" "" "0000844849" "2" "30" "1" "223116474" "223116474" "subst" "0.179066" "00006" "DISP1_000010" "g.223116474G>T" "" "{PMID:Drissi 2022:33820834}" "" "Glu103Asp" "" "Germline" "" "rs2789975" "0" "" "" "" "" "likely benign" "" "0000844855" "1" "30" "1" "223116472" "223116472" "subst" "0.179062" "00006" "DISP1_000009" "g.223116472G>A" "" "{PMID:Drissi 2022:33820834}" "" "" "" "Germline" "" "rs2609383" "0" "" "" "" "" "likely benign" "" "0000844856" "2" "30" "1" "223116474" "223116474" "subst" "0.179066" "00006" "DISP1_000010" "g.223116474G>T" "" "{PMID:Drissi 2022:33820834}" "" "Glu103Asp" "" "Germline" "" "rs2789975" "0" "" "" "" "" "likely benign" "" "0000848554" "0" "50" "1" "223176150" "223176150" "subst" "0" "02325" "DISP1_000011" "g.223176150A>G" "" "" "" "DISP1(NM_032890.5):c.1411A>G (p.N471D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883167" "0" "50" "1" "223176433" "223176433" "subst" "0" "02325" "DISP1_000012" "g.223176433T>C" "" "" "" "DISP1(NM_032890.5):c.1694T>C (p.I565T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947156" "0" "50" "1" "223116305" "223116305" "subst" "0" "02325" "DISP1_000013" "g.223116305G>T" "" "" "" "DISP1(NM_032890.5):c.140G>T (p.R47I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973673" "0" "50" "1" "223164883" "223164883" "subst" "4.06554E-6" "01804" "DISP1_000014" "g.223164883G>A" "" "" "" "DISP1(NM_001377229.1):c.685G>A (p.(Ala229Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973674" "0" "50" "1" "223177402" "223177402" "subst" "4.46944E-5" "01804" "DISP1_000015" "g.223177402T>G" "" "" "" "DISP1(NM_001377229.1):c.2663T>G (p.(Leu888Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973675" "0" "50" "1" "223177522" "223177522" "subst" "0.000767787" "01804" "DISP1_000016" "g.223177522A>G" "" "" "" "DISP1(NM_001377229.1):c.2783A>G (p.(Gln928Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973676" "0" "50" "1" "223177533" "223177533" "subst" "0" "01804" "DISP1_000017" "g.223177533C>T" "" "" "" "DISP1(NM_001377229.1):c.2794C>T (p.(Leu932Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990864" "0" "50" "1" "223176321" "223176321" "subst" "0" "02325" "DISP1_000018" "g.223176321A>G" "" "" "" "DISP1(NM_032890.5):c.1582A>G (p.T528A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990865" "0" "50" "1" "223177413" "223177413" "subst" "0" "01804" "DISP1_000019" "g.223177413A>T" "" "" "" "DISP1(NM_032890.3):c.2674A>T (p.(Arg892*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990866" "0" "30" "1" "223178013" "223178013" "subst" "2.84564E-5" "01804" "DISP1_000020" "g.223178013G>A" "" "" "" "DISP1(NM_032890.3):c.3274G>A (p.(Val1092Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990867" "0" "30" "1" "223178026" "223178026" "subst" "0.00604099" "01804" "DISP1_000005" "g.223178026T>C" "" "" "" "DISP1(NM_032890.3):c.3287T>C (p.(Met1096Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990868" "0" "30" "1" "223178357" "223178357" "subst" "1.21882E-5" "01804" "DISP1_000021" "g.223178357G>C" "" "" "" "DISP1(NM_032890.3):c.3618G>C (p.(Glu1206Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990869" "0" "50" "1" "223178729" "223178732" "del" "0" "01804" "DISP1_000022" "g.223178729_223178732del" "" "" "" "DISP1(NM_032890.3):c.3990_3993delGCAC (p.(His1331fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031714" "0" "30" "1" "223163963" "223163963" "subst" "0" "01804" "DISP1_000023" "g.223163963G>T" "" "" "" "DISP1(NM_001377229.1):c.540-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031715" "0" "50" "1" "223164028" "223164028" "subst" "4.46958E-5" "01804" "DISP1_000024" "g.223164028G>A" "" "" "" "DISP1(NM_001377229.1):c.601G>A (p.(Val201Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031716" "0" "50" "1" "223177116" "223177116" "subst" "8.53631E-5" "01804" "DISP1_000025" "g.223177116G>A" "" "" "" "DISP1(NM_001377229.1):c.2377G>A (p.(Val793Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031717" "0" "50" "1" "223177605" "223177605" "subst" "4.07004E-6" "01804" "DISP1_000026" "g.223177605A>T" "" "" "" "DISP1(NM_001377229.1):c.2866A>T (p.(Ser956Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031718" "0" "50" "1" "223178391" "223178391" "subst" "2.03181E-5" "01804" "DISP1_000027" "g.223178391G>C" "" "" "" "DISP1(NM_001377229.1):c.3652G>C (p.(Glu1218Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031719" "0" "50" "1" "223179296" "223179298" "del" "0" "01804" "DISP1_000007" "g.223179296_223179298del" "" "" "" "DISP1(NM_001377229.1):c.4557_4559del (p.(Leu1520del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031720" "0" "50" "1" "223179298" "223179298" "subst" "4.12957E-6" "01804" "DISP1_000028" "g.223179298T>C" "" "" "" "DISP1(NM_001377229.1):c.4559T>C (p.(Leu1520Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045652" "0" "50" "1" "223178123" "223178123" "subst" "1.62977E-5" "02325" "DISP1_000029" "g.223178123G>C" "" "" "" "DISP1(NM_032890.5):c.3384G>C (p.Q1128H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050434" "0" "50" "1" "223178644" "223178644" "subst" "0" "01804" "DISP1_000030" "g.223178644C>T" "" "" "" "DISP1(NM_001377229.1):c.3905C>T (p.(Thr1302Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050435" "0" "30" "1" "223178706" "223178706" "subst" "0.000384501" "01804" "DISP1_000031" "g.223178706G>A" "" "" "" "DISP1(NM_001377229.1):c.3967G>A (p.(Glu1323Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062554" "21" "90" "1" "223178747" "223178747" "del" "0" "00006" "DISP1_000032" "g.223178747del" "" "{PMID:Van Jaarsveld 2023:36322151}" "" "400delC (C1337AfsX6)" "" "Germline" "" "" "0" "" "" "g.223005405del" "" "VUS" "" "0001070320" "0" "70" "1" "223178026" "223178026" "subst" "0.00604099" "00006" "DISP1_000005" "g.223178026T>C" "" "{PMID:Wightman 2026:41687604}" "" "" "associated with reduced cerebellar volume" "Germline" "" "" "0" "" "" "g.223004684T>C" "" "association" "" "0001071173" "0" "50" "1" "223175725" "223175725" "subst" "0" "03779" "DISP1_000033" "g.223175725A>G" "" "" "" "" "" "Unknown" "" "rs2528286922" "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 DISP1 ## Count = 39 "{{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}}" "0000267400" "00006446" "10" "75" "0" "75" "0" "c.75G>A" "r.(?)" "p.(Pro25=)" "" "0000268690" "00006446" "50" "2558" "0" "2558" "0" "c.2558T>C" "r.(?)" "p.(Ile853Thr)" "" "0000268691" "00006446" "50" "3128" "0" "3128" "0" "c.3128C>T" "r.(?)" "p.(Ser1043Leu)" "" "0000505637" "00006446" "50" "1804" "0" "1804" "0" "c.1804C>A" "r.(?)" "p.(Gln602Lys)" "" "0000505638" "00006446" "30" "3287" "0" "3287" "0" "c.3287T>C" "r.(?)" "p.(Met1096Thr)" "" "0000505640" "00006446" "50" "4557" "0" "4559" "0" "c.4557_4559del" "r.(?)" "p.(Leu1520del)" "" "0000605211" "00006446" "30" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Pro447Ser)" "" "0000688036" "00006446" "50" "1804" "0" "1804" "0" "c.1804C>A" "r.(?)" "p.(Gln602Lys)" "" "0000844848" "00006446" "30" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Glu103Lys)" "" "0000844849" "00006446" "30" "309" "0" "309" "0" "c.309G>T" "r.(?)" "p.(Glu103Asp)" "" "0000844855" "00006446" "30" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Glu103Lys)" "" "0000844856" "00006446" "30" "309" "0" "309" "0" "c.309G>T" "r.(?)" "p.(Glu103Asp)" "" "0000848554" "00006446" "50" "1411" "0" "1411" "0" "c.1411A>G" "r.(?)" "p.(Asn471Asp)" "" "0000883167" "00006446" "50" "1694" "0" "1694" "0" "c.1694T>C" "r.(?)" "p.(Ile565Thr)" "" "0000947156" "00006446" "50" "140" "0" "140" "0" "c.140G>T" "r.(?)" "p.(Arg47Ile)" "" "0000973673" "00006446" "50" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000973674" "00006446" "50" "2663" "0" "2663" "0" "c.2663T>G" "r.(?)" "p.(Leu888Arg)" "" "0000973675" "00006446" "50" "2783" "0" "2783" "0" "c.2783A>G" "r.(?)" "p.(Gln928Arg)" "" "0000973676" "00006446" "50" "2794" "0" "2794" "0" "c.2794C>T" "r.(?)" "p.(Leu932Phe)" "" "0000990864" "00006446" "50" "1582" "0" "1582" "0" "c.1582A>G" "r.(?)" "p.(Thr528Ala)" "" "0000990865" "00006446" "50" "2674" "0" "2674" "0" "c.2674A>T" "r.(?)" "p.(Arg892*)" "" "0000990866" "00006446" "30" "3274" "0" "3274" "0" "c.3274G>A" "r.(?)" "p.(Val1092Met)" "" "0000990867" "00006446" "30" "3287" "0" "3287" "0" "c.3287T>C" "r.(?)" "p.(Met1096Thr)" "" "0000990868" "00006446" "30" "3618" "0" "3618" "0" "c.3618G>C" "r.(?)" "p.(Glu1206Asp)" "" "0000990869" "00006446" "50" "3990" "0" "3993" "0" "c.3990_3993del" "r.(?)" "p.(His1331Serfs*11)" "" "0001031714" "00006446" "30" "540" "-4" "540" "-4" "c.540-4G>T" "r.spl?" "p.?" "" "0001031715" "00006446" "50" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Val201Ile)" "" "0001031716" "00006446" "50" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Val793Met)" "" "0001031717" "00006446" "50" "2866" "0" "2866" "0" "c.2866A>T" "r.(?)" "p.(Ser956Cys)" "" "0001031718" "00006446" "50" "3652" "0" "3652" "0" "c.3652G>C" "r.(?)" "p.(Glu1218Gln)" "" "0001031719" "00006446" "50" "4557" "0" "4559" "0" "c.4557_4559del" "r.(?)" "p.(Leu1520del)" "" "0001031720" "00006446" "50" "4559" "0" "4559" "0" "c.4559T>C" "r.(?)" "p.(Leu1520Ser)" "" "0001045652" "00006446" "50" "3384" "0" "3384" "0" "c.3384G>C" "r.(?)" "p.(Gln1128His)" "" "0001050434" "00006446" "50" "3905" "0" "3905" "0" "c.3905C>T" "r.(?)" "p.(Thr1302Ile)" "" "0001050435" "00006446" "30" "3967" "0" "3967" "0" "c.3967G>A" "r.(?)" "p.(Glu1323Lys)" "" "0001062554" "00006446" "90" "4008" "0" "4008" "0" "c.4008del" "r.(?)" "p.(Cys1337Alafs*6)" "" "0001070320" "00006446" "70" "3287" "0" "3287" "0" "c.3287T>C" "r.(?)" "p.(Met1096Thr)" "" "0001070320" "00026068" "70" "3287" "0" "3287" "0" "c.3287T>C" "r.(?)" "p.(Met1096Thr)" "" "0001071173" "00026068" "50" "988" "-2" "988" "-2" "c.988-2A>G" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000407985" "0000844848" "0000407985" "0000844849" "0000407987" "0000844855" "0000407987" "0000844856" "0000473667" "0001062554" "0000475762" "0001070320"