### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WAS) # 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}}" "WAS" "Wiskott-Aldrich syndrome" "X" "p11.4-p11.21" "unknown" "LRG_125" "UD_132085308141" "" "https://www.LOVD.nl/WAS" "" "1" "12731" "7454" "300392" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/WAS_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-12-01 15:03:36" "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}}" "00000669" "WAS" "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)" "001" "NM_000377.2" "" "NP_000368.1" "" "" "" "-57" "1774" "1509" "48542186" "48549818" "00000" "2012-09-13 12:45:53" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00704" "JMML;CMML" "leukemia, juvenile myelomonocytic (JMML, leukemia, chronic myelomonocytic (CMML))" "AD;SMu" "607785" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02146" "SCNX" "neutropenia, congenital, severe, X-linked (SCNX)" "XLR" "300299" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02268" "THC1;XLT" "thrombocytopenia, type 1 (THC-1, thrombocytopenia X-linked (XLT))" "XLR" "313900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05061" "WAS" "Wiskott-Aldrich syndrome (WAS)" "XLR" "301000" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "WAS" "02146" "WAS" "02268" "WAS" "05061" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00143262" "" "" "" "2" "" "02336" "" "" "M" "-" "Ukraine" "02y" "0" "" "hematopoietic stem cells transplantation" "" "" "00303521" "" "" "" "1" "" "00006" "{PMID:Gernez 2019:31271789}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "Hispanic" "Pat4" "00411262" "" "" "" "1" "" "04330" "" "" "M" "yes" "Turkey" "00y02m" "" "" "" "" "" "00433064" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Ecuador" "" "0" "" "" "" "Pat35,1" "00433098" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "United States" "" "0" "" "" "Europe" "Pat74,1" "00464524" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00143262" "00704" "00303521" "00198" "00411262" "05061" "00433064" "05292" "00433098" "05292" "00464524" "05061" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00704, 01157, 02146, 02268, 05061, 05292 ## Count = 8 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000116014" "00704" "00143262" "02336" "-" "00y19m" "" "00y19m" "00y19m" "JMML" "" "" "" "" "" "" "" "" "0000230598" "00198" "00303521" "00006" "Isolated (sporadic)" "12y" "see paper; ..., developmental delay; no structural brain anomalies; growth retardation; facial dysmorphism; no sensorineural deafness; no camptodactily; no hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; inflammation; Cytopenias, brain hemorrhage, hepatosplenomegaly, skin rash, recurrent fever" "" "" "" "" "" "" "" "" "" "" "" "0000303338" "05061" "00411262" "04330" "Familial, X-linked recessive" "00y01m" "Thrombocytopenia (HP:0001873), Intracranial hemorrhage (HP:0002170)" "" "00y02m" "" "" "" "" "" "" "Wiskott-Aldrich Syndrome" "Thrombocytopenia" "" "0000323590" "05292" "00433064" "00006" "Isolated (sporadic)" "3y" "combined immunodeficiency (not SCID), selective T cell deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323624" "05292" "00433098" "00006" "Familial, X-linked" "9y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000350524" "05061" "00464524" "03544" "Familial, X-linked recessive" "" "HP:0001873, HP:0001419, HP:0002721" "" "" "" "" "" "" "" "" "WAS" "WAS" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000144119" "00143262" "1" "02336" "02336" "2017-12-01 14:08:34" "" "" "SEQ-NG" "DNA" "Bone Marrow" "Sanger Sequencing in cDNA" "0000304649" "00303521" "1" "00006" "00006" "2020-06-15 17:08:24" "" "" "SEQ" "DNA" "" "" "0000412527" "00411262" "1" "04330" "04330" "2022-06-09 14:36:45" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000434495" "00433064" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434529" "00433098" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000466162" "00464524" "1" "03544" "03544" "2025-03-21 10:33:55" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000144119" "WAS" "0000304649" "CDC42" ## 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 = 81 "{{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}}" "0000006818" "20" "50" "X" "48544650" "48544650" "subst" "0" "00037" "WAS_000001" "g.48544650A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48686261A>G" "" "VUS" "" "0000006819" "20" "50" "X" "48548091" "48548091" "subst" "0" "00037" "WAS_000004" "g.48548091C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48689702=" "" "VUS" "" "0000008895" "20" "50" "X" "48544650" "48544650" "subst" "0" "00037" "WAS_000001" "g.48544650A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48686261A>G" "" "VUS" "" "0000014787" "20" "50" "X" "48548091" "48548091" "subst" "0" "00037" "WAS_000004" "g.48548091C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48689702=" "" "VUS" "" "0000234559" "21" "50" "X" "48546731" "48546731" "subst" "0" "02336" "WAS_000005" "g.48546731G>A" "" "" "" "g.9546G>A" "" "Somatic" "-" "" "0" "" "" "g.48688342G>A" "" "VUS" "" "0000249760" "0" "50" "X" "48542736" "48542736" "subst" "0" "02325" "WAS_000009" "g.48542736A>G" "" "" "" "WAS(NM_000377.3):c.197A>G (p.K66R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48684347A>G" "" "VUS" "" "0000252636" "0" "90" "X" "48546687" "48546687" "subst" "0" "02326" "WAS_000042" "g.48546687A>G" "" "" "" "WAS(NM_000377.2):c.778-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48688298A>G" "" "pathogenic" "" "0000252690" "0" "50" "X" "48545322" "48545322" "subst" "0" "02326" "WAS_000022" "g.48545322A>G" "" "" "" "WAS(NM_000377.2):c.712A>G (p.I238V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48686933A>G" "" "VUS" "" "0000252822" "0" "50" "X" "48542824" "48542824" "subst" "0" "02326" "WAS_000015" "g.48542824A>C" "" "" "" "WAS(NM_000377.2):c.273+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48684435A>C" "" "VUS" "" "0000255790" "0" "50" "X" "48549510" "48549510" "subst" "5.60111E-6" "01943" "WAS_000035" "g.48549510A>G" "" "" "" "WAS(NM_000377.2):c.1466A>G (p.D489G, p.(Asp489Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48691119A>G" "" "VUS" "" "0000255888" "0" "50" "X" "48549534" "48549534" "subst" "0" "01943" "WAS_000036" "g.48549534A>G" "" "" "" "WAS(NM_000377.2):c.1490A>G (p.D497G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48691143A>G" "" "VUS" "" "0000315367" "0" "90" "X" "48542342" "48542342" "subst" "0" "02326" "WAS_000007" "g.48542342C>T" "" "" "" "WAS(NM_000377.2):c.100C>T (p.R34*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48683953C>T" "" "pathogenic" "" "0000315368" "0" "50" "X" "48547317" "48547317" "subst" "0.000409914" "02326" "WAS_000030" "g.48547317G>A" "" "" "" "WAS(NM_000377.2):c.1200G>A (p.P400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48688928G>A" "" "VUS" "" "0000315369" "0" "50" "X" "48547456" "48547456" "subst" "0" "02326" "WAS_000033" "g.48547456G>A" "" "" "" "WAS(NM_000377.2):c.1338+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48689067G>A" "" "VUS" "" "0000315370" "0" "50" "X" "48542796" "48542796" "subst" "0" "02326" "WAS_000010" "g.48542796G>A" "" "" "" "WAS(NM_000377.2):c.257G>A (p.R86H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48684407G>A" "" "VUS" "" "0000315371" "0" "30" "X" "48542803" "48542803" "subst" "0.000111915" "02326" "WAS_000011" "g.48542803C>T" "" "" "" "WAS(NM_000377.2):c.264C>T (p.Y88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48684414C>T" "" "likely benign" "" "0000315373" "0" "30" "X" "48542823" "48542823" "dup" "0" "02326" "WAS_000014" "g.48542823dup" "" "" "" "WAS(NM_000377.2):c.273+11dup (p.(=)), WAS(NM_000377.2):c.273+11dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48684434dup" "" "likely benign" "" "0000315374" "0" "30" "X" "48544153" "48544153" "subst" "0.00260066" "02326" "WAS_000017" "g.48544153G>A" "" "" "" "WAS(NM_000377.2):c.391G>A (p.E131K), WAS(NM_000377.3):c.391G>A (p.E131K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48685764G>A" "" "likely benign" "" "0000315375" "0" "50" "X" "48544528" "48544528" "subst" "0" "02326" "WAS_000021" "g.48544528G>A" "" "" "" "WAS(NM_000377.2):c.559+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48686139G>A" "" "VUS" "" "0000319768" "0" "90" "X" "48542346" "48542346" "subst" "0" "01943" "WAS_000008" "g.48542346T>A" "" "" "" "WAS(NM_000377.2):c.104T>A (p.L35H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48683957T>A" "" "pathogenic" "" "0000319769" "0" "90" "X" "48547175" "48547175" "del" "0" "01943" "WAS_000028" "g.48547175del" "" "" "" "WAS(NM_000377.2):c.1058delC (p.P353Hfs*92)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48688786del" "" "pathogenic" "" "0000319770" "0" "30" "X" "48547397" "48547397" "subst" "1.94884E-5" "01943" "WAS_000031" "g.48547397C>T" "" "" "" "WAS(NM_000377.2):c.1280C>T (p.P427L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48689008C>T" "" "likely benign" "" "0000319771" "0" "10" "X" "48547416" "48547416" "subst" "0.00311092" "01943" "WAS_000032" "g.48547416G>A" "" "" "" "WAS(NM_000377.2):c.1299G>A (p.A433=), WAS(NM_000377.3):c.1299G>A (p.(Ala433=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48689027G>A" "" "benign" "" "0000319772" "0" "30" "X" "48549552" "48549552" "subst" "5.60343E-6" "01943" "WAS_000037" "g.48549552G>A" "" "" "" "WAS(NM_000377.2):c.1508G>A (p.*503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48691161G>A" "" "likely benign" "" "0000319774" "0" "50" "X" "48544153" "48544153" "subst" "0.00260066" "01943" "WAS_000017" "g.48544153G>A" "" "" "" "WAS(NM_000377.2):c.391G>A (p.E131K), WAS(NM_000377.3):c.391G>A (p.E131K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48685764G>A" "" "VUS" "" "0000319775" "0" "30" "X" "48544158" "48544158" "subst" "0" "01943" "WAS_000018" "g.48544158C>T" "" "" "" "WAS(NM_000377.2):c.396C>T (p.D132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48685769C>T" "" "likely benign" "" "0000319776" "0" "30" "X" "48542247" "48542247" "subst" "0" "01943" "WAS_000006" "g.48542247G>C" "" "" "" "WAS(NM_000377.2):c.5G>C (p.S2T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48683858G>C" "" "likely benign" "" "0000319777" "0" "30" "X" "48546761" "48546761" "subst" "0" "01943" "WAS_000025" "g.48546761G>A" "" "" "" "WAS(NM_000377.2):c.850G>A (p.A284T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48688372G>A" "" "likely benign" "" "0000319778" "0" "10" "X" "48546836" "48546836" "subst" "0" "01943" "WAS_000026" "g.48546836C>T" "" "" "" "WAS(NM_000377.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48688447C>T" "" "benign" "" "0000333996" "0" "50" "X" "48544502" "48544502" "subst" "0.000974239" "01804" "WAS_000020" "g.48544502C>A" "" "" "" "WAS(NM_000377.2):c.538C>A (p.H180N, p.(His180Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48686113C>A" "" "VUS" "" "0000333998" "0" "50" "X" "48547112" "48547112" "subst" "0.0048007" "01804" "WAS_000027" "g.48547112T>C" "" "" "" "WAS(NM_000377.2):c.995T>C (p.(Val332Ala), p.V332A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48688723T>C" "" "VUS" "" "0000349533" "0" "90" "X" "48542681" "48542681" "subst" "0" "02327" "WAS_000039" "g.48542681A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48684292A>G" "" "pathogenic" "" "0000350653" "0" "90" "X" "48542762" "48542762" "subst" "5.62876E-6" "02327" "WAS_000040" "g.48542762G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48684373G>A" "" "pathogenic" "" "0000576236" "0" "30" "X" "48542689" "48542689" "subst" "5.613E-6" "02326" "WAS_000043" "g.48542689T>A" "" "" "" "WAS(NM_000377.2):c.150T>A (p.V50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48684300T>A" "" "likely benign" "" "0000576237" "0" "30" "X" "48542803" "48542803" "subst" "0.000111915" "01943" "WAS_000011" "g.48542803C>T" "" "" "" "WAS(NM_000377.2):c.264C>T (p.Y88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48684414C>T" "" "likely benign" "" "0000576238" "0" "30" "X" "48542822" "48542823" "dup" "0" "01943" "WAS_000044" "g.48542822_48542823dup" "" "" "" "WAS(NM_000377.2):c.273+10_273+11dupCC, WAS(NM_000377.2):c.273+10_273+11dupCC (p.?), WAS(NM_000377.2):c.273+9_273+10dupCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48684433_48684434dup" "" "likely benign" "" "0000576240" "0" "30" "X" "48544175" "48544175" "subst" "0.000460483" "01943" "WAS_000045" "g.48544175G>A" "" "" "" "WAS(NM_000377.2):c.413G>A (p.R138Q), WAS(NM_000377.3):c.413G>A (p.R138Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48685786G>A" "" "likely benign" "" "0000576242" "0" "30" "X" "48544502" "48544502" "subst" "0.000974239" "01943" "WAS_000020" "g.48544502C>A" "" "" "" "WAS(NM_000377.2):c.538C>A (p.H180N, p.(His180Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48686113C>A" "" "likely benign" "" "0000576245" "0" "10" "X" "48547748" "48547748" "subst" "0.00338628" "01943" "WAS_000048" "g.48547748C>T" "" "" "" "WAS(NM_000377.2):c.1378C>T (p.P460S, p.(Pro460Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48689359C>T" "" "benign" "" "0000576246" "0" "30" "X" "48547748" "48547748" "subst" "0.00338628" "02326" "WAS_000048" "g.48547748C>T" "" "" "" "WAS(NM_000377.2):c.1378C>T (p.P460S, p.(Pro460Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48689359C>T" "" "likely benign" "" "0000576247" "0" "30" "X" "48549499" "48549499" "subst" "6.72691E-5" "01943" "WAS_000049" "g.48549499C>T" "" "" "" "WAS(NM_000377.2):c.1455C>T (p.D485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48691108C>T" "" "likely benign" "" "0000576248" "0" "50" "X" "48549510" "48549510" "subst" "5.60111E-6" "01804" "WAS_000035" "g.48549510A>G" "" "" "" "WAS(NM_000377.2):c.1466A>G (p.D489G, p.(Asp489Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48691119A>G" "" "VUS" "" "0000619624" "0" "50" "X" "48544512" "48544512" "subst" "0" "01943" "WAS_000052" "g.48544512G>A" "" "" "" "WAS(NM_000377.2):c.548G>A (p.G183E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48686123G>A" "" "VUS" "" "0000624636" "0" "30" "X" "48542332" "48542332" "subst" "0.000727444" "02326" "WAS_000050" "g.48542332C>T" "" "" "" "WAS(NM_000377.2):c.90C>T (p.H30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48683943C>T" "" "likely benign" "" "0000624637" "0" "30" "X" "48544182" "48544182" "subst" "3.77706E-5" "01943" "WAS_000051" "g.48544182C>T" "" "" "" "WAS(NM_000377.2):c.420C>T (p.L140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48685793C>T" "" "likely benign" "" "0000659338" "0" "30" "X" "48547336" "48547336" "subst" "3.84006E-5" "01943" "WAS_000053" "g.48547336G>A" "" "" "" "WAS(NM_000377.2):c.1219G>A (p.G407R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48688947G>A" "" "likely benign" "" "0000668142" "21" "70" "X" "48545316" "48545316" "subst" "1.75712E-5" "00006" "WAS_000054" "g.48545316G>A" "" "{PMID:Gernez 2019:31271789}" "" "" "" "Germline" "" "" "0" "" "" "g.48686927G>A" "" "likely pathogenic (recessive)" "" "0000682472" "0" "30" "X" "48542755" "48542755" "subst" "0" "01943" "WAS_000055" "g.48542755G>A" "" "" "" "WAS(NM_000377.2):c.216G>A (p.V72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693620" "0" "30" "X" "48544502" "48544502" "subst" "0.000974239" "02326" "WAS_000020" "g.48544502C>A" "" "" "" "WAS(NM_000377.2):c.538C>A (p.H180N, p.(His180Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693621" "0" "30" "X" "48547748" "48547748" "subst" "0.00338628" "01804" "WAS_000048" "g.48547748C>T" "" "" "" "WAS(NM_000377.2):c.1378C>T (p.P460S, p.(Pro460Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708483" "0" "70" "X" "48542313" "48542313" "subst" "0" "03779" "WAS_000056" "g.48542313C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000728966" "0" "50" "X" "48542249" "48542249" "subst" "0" "02327" "WAS_000057" "g.48542249G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728967" "0" "30" "X" "48547166" "48547166" "subst" "0" "01943" "WAS_000058" "g.48547166C>T" "" "" "" "WAS(NM_000377.2):c.1049C>T (p.A350V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810448" "0" "90" "X" "48544159" "48544159" "subst" "0" "02327" "WAS_000059" "g.48544159G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810449" "0" "30" "X" "48544484" "48544484" "subst" "0" "01943" "WAS_000060" "g.48544484C>T" "" "" "" "WAS(NM_000377.2):c.520C>T (p.L174F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810450" "0" "50" "X" "48547322" "48547322" "subst" "1.0313E-5" "01943" "WAS_000061" "g.48547322C>T" "" "" "" "WAS(NM_000377.2):c.1205C>T (p.P402L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856647" "0" "30" "X" "48546823" "48546823" "subst" "3.39069E-5" "01943" "WAS_000063" "g.48546823G>A" "" "" "" "WAS(NM_000377.2):c.912G>A (p.R304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856648" "0" "50" "X" "48547298" "48547298" "subst" "7.90303E-5" "01943" "WAS_000064" "g.48547298C>T" "" "" "" "WAS(NM_000377.2):c.1181C>T (p.P394L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867407" "0" "10" "X" "48542823" "48542823" "dup" "0" "01804" "WAS_000014" "g.48542823dup" "" "" "" "WAS(NM_000377.2):c.273+11dup (p.(=)), WAS(NM_000377.2):c.273+11dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000867408" "0" "30" "X" "48544153" "48544153" "subst" "0.00260066" "02325" "WAS_000017" "g.48544153G>A" "" "" "" "WAS(NM_000377.2):c.391G>A (p.E131K), WAS(NM_000377.3):c.391G>A (p.E131K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867409" "0" "50" "X" "48545185" "48545185" "subst" "2.80114E-5" "02327" "WAS_000062" "g.48545185C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869874" "21" "70" "X" "48547747" "48547748" "dup" "0" "04330" "WAS_000065" "g.48547747_48547748dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48689358_48689359dup" "" "likely pathogenic" "ACMG" "0000896259" "0" "30" "X" "48547112" "48547112" "subst" "0.0048007" "02326" "WAS_000027" "g.48547112T>C" "" "" "" "WAS(NM_000377.2):c.995T>C (p.(Val332Ala), p.V332A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896260" "0" "30" "X" "48547416" "48547416" "subst" "0.00311092" "02326" "WAS_000032" "g.48547416G>A" "" "" "" "WAS(NM_000377.2):c.1299G>A (p.A433=), WAS(NM_000377.3):c.1299G>A (p.(Ala433=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915728" "0" "50" "X" "48545233" "48545233" "subst" "0" "02325" "WAS_000066" "g.48545233C>T" "" "" "" "WAS(NM_000377.3):c.623C>T (p.T208M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915729" "0" "30" "X" "48549486" "48549486" "subst" "0" "02326" "WAS_000067" "g.48549486C>A" "" "" "" "WAS(NM_000377.2):c.1454-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920252" "0" "70" "X" "48542747" "48542747" "subst" "0" "00006" "WAS_000068" "g.48542747G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.48684358G>A" "" "likely pathogenic" "ACMG" "0000920283" "21" "50" "X" "48547298" "48547298" "subst" "7.90303E-5" "00006" "WAS_000064" "g.48547298C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.48688909C>T" "" "VUS" "ACMG" "0000927383" "0" "30" "X" "48542822" "48542823" "dup" "0" "02326" "WAS_000044" "g.48542822_48542823dup" "" "" "" "WAS(NM_000377.2):c.273+10_273+11dupCC, WAS(NM_000377.2):c.273+10_273+11dupCC (p.?), WAS(NM_000377.2):c.273+9_273+10dupCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931424" "0" "50" "X" "48546705" "48546705" "subst" "0" "02325" "WAS_000069" "g.48546705C>G" "" "" "" "WAS(NM_000377.3):c.794C>G (p.P265R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951765" "0" "30" "X" "48544175" "48544175" "subst" "0.000460483" "02325" "WAS_000045" "g.48544175G>A" "" "" "" "WAS(NM_000377.2):c.413G>A (p.R138Q), WAS(NM_000377.3):c.413G>A (p.R138Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984714" "0" "10" "X" "48547416" "48547416" "subst" "0.00311092" "01804" "WAS_000032" "g.48547416G>A" "" "" "" "WAS(NM_000377.2):c.1299G>A (p.A433=), WAS(NM_000377.3):c.1299G>A (p.(Ala433=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006782" "0" "30" "X" "48542822" "48542823" "dup" "0" "01804" "WAS_000044" "g.48542822_48542823dup" "" "" "" "WAS(NM_000377.2):c.273+10_273+11dupCC, WAS(NM_000377.2):c.273+10_273+11dupCC (p.?), WAS(NM_000377.2):c.273+9_273+10dupCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006783" "0" "30" "X" "48544526" "48544526" "subst" "0.000106532" "01804" "WAS_000070" "g.48544526G>A" "" "" "" "WAS(NM_000377.2):c.559+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006784" "0" "90" "X" "48545323" "48545323" "subst" "0" "02325" "WAS_000071" "g.48545323T>C" "" "" "" "WAS(NM_000377.3):c.713T>C (p.I238T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001016037" "0" "50" "X" "48542805" "48542805" "subst" "4.75975E-5" "02325" "WAS_000072" "g.48542805G>A" "" "" "" "WAS(NM_000377.3):c.266G>A (p.G89D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016038" "0" "30" "X" "48547112" "48547112" "subst" "0.0048007" "02327" "WAS_000027" "g.48547112T>C" "" "" "" "WAS(NM_000377.2):c.995T>C (p.(Val332Ala), p.V332A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027505" "0" "30" "X" "48542674" "48542674" "subst" "1.12442E-5" "02325" "WAS_000073" "g.48542674G>T" "" "" "" "WAS(NM_000377.3):c.135G>T (p.T45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027506" "0" "30" "X" "48547748" "48547748" "subst" "0.00338628" "02327" "WAS_000048" "g.48547748C>T" "" "" "" "WAS(NM_000377.2):c.1378C>T (p.P460S, p.(Pro460Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030016" "0" "70" "X" "48542787" "48542789" "del" "0" "03544" "WAS_000074" "g.48542787_48542789del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.48684398_48684400del" "" "likely pathogenic" "ACMG" "0001044360" "0" "50" "X" "48542280" "48542280" "subst" "1.11949E-5" "01804" "WAS_000075" "g.48542280G>A" "" "" "" "WAS(NM_000377.3):c.38G>A (p.(Arg13Gln))" "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 WAS ## Count = 81 "{{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}}" "0000006818" "00000669" "50" "559" "127" "559" "127" "c.559+127A>G" "r.(=)" "p.(=)" "" "0000006819" "00000669" "50" "1453" "268" "1453" "268" "c.1453+268C>T" "r.(=)" "p.(=)" "" "0000008895" "00000669" "50" "559" "127" "559" "127" "c.559+127A>G" "r.(=)" "p.(=)" "" "0000014787" "00000669" "50" "1453" "268" "1453" "268" "c.1453+268C>T" "r.(=)" "p.(=)" "" "0000234559" "00000669" "50" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Ala274Thr)" "9" "0000249760" "00000669" "50" "197" "0" "197" "0" "c.197A>G" "r.(?)" "p.(Lys66Arg)" "" "0000252636" "00000669" "90" "778" "-2" "778" "-2" "c.778-2A>G" "r.spl?" "p.?" "" "0000252690" "00000669" "50" "712" "0" "712" "0" "c.712A>G" "r.(?)" "p.(Ile238Val)" "" "0000252822" "00000669" "50" "273" "12" "273" "12" "c.273+12A>C" "r.(=)" "p.(=)" "" "0000255790" "00000669" "50" "1466" "0" "1466" "0" "c.1466A>G" "r.(?)" "p.(Asp489Gly)" "" "0000255888" "00000669" "50" "1490" "0" "1490" "0" "c.1490A>G" "r.(?)" "p.(Asp497Gly)" "" "0000315367" "00000669" "90" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34Ter)" "" "0000315368" "00000669" "50" "1200" "0" "1200" "0" "c.1200G>A" "r.(?)" "p.(Pro400=)" "" "0000315369" "00000669" "50" "1338" "1" "1338" "1" "c.1338+1G>A" "r.spl?" "p.?" "" "0000315370" "00000669" "50" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Arg86His)" "" "0000315371" "00000669" "30" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Tyr88=)" "" "0000315373" "00000669" "30" "273" "11" "273" "11" "c.273+11dup" "r.(=)" "p.(=)" "" "0000315374" "00000669" "30" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Glu131Lys)" "" "0000315375" "00000669" "50" "559" "5" "559" "5" "c.559+5G>A" "r.spl?" "p.?" "" "0000319768" "00000669" "90" "104" "0" "104" "0" "c.104T>A" "r.(?)" "p.(Leu35His)" "" "0000319769" "00000669" "90" "1058" "0" "1058" "0" "c.1058del" "r.(?)" "p.(Pro353HisfsTer92)" "" "0000319770" "00000669" "30" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Pro427Leu)" "" "0000319771" "00000669" "10" "1299" "0" "1299" "0" "c.1299G>A" "r.(?)" "p.(Ala433=)" "" "0000319772" "00000669" "30" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Ter503=)" "" "0000319774" "00000669" "50" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Glu131Lys)" "" "0000319775" "00000669" "30" "396" "0" "396" "0" "c.396C>T" "r.(?)" "p.(Asp132=)" "" "0000319776" "00000669" "30" "5" "0" "5" "0" "c.5G>C" "r.(?)" "p.(Ser2Thr)" "" "0000319777" "00000669" "30" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Ala284Thr)" "" "0000319778" "00000669" "10" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "0000333996" "00000669" "50" "538" "0" "538" "0" "c.538C>A" "r.(?)" "p.(His180Asn)" "" "0000333998" "00000669" "50" "995" "0" "995" "0" "c.995T>C" "r.(?)" "p.(Val332Ala)" "" "0000349533" "00000669" "90" "142" "0" "142" "0" "c.142A>G" "r.(?)" "p.(Thr48Ala)" "" "0000350653" "00000669" "90" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Val75Met)" "" "0000576236" "00000669" "30" "150" "0" "150" "0" "c.150T>A" "r.(?)" "p.(Val50=)" "" "0000576237" "00000669" "30" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Tyr88=)" "" "0000576238" "00000669" "30" "273" "10" "273" "11" "c.273+10_273+11dup" "r.(=)" "p.(=)" "" "0000576240" "00000669" "30" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "" "0000576242" "00000669" "30" "538" "0" "538" "0" "c.538C>A" "r.(?)" "p.(His180Asn)" "" "0000576245" "00000669" "10" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Pro460Ser)" "" "0000576246" "00000669" "30" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Pro460Ser)" "" "0000576247" "00000669" "30" "1455" "0" "1455" "0" "c.1455C>T" "r.(?)" "p.(Asp485=)" "" "0000576248" "00000669" "50" "1466" "0" "1466" "0" "c.1466A>G" "r.(?)" "p.(Asp489Gly)" "" "0000619624" "00000669" "50" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Gly183Glu)" "" "0000624636" "00000669" "30" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(His30=)" "" "0000624637" "00000669" "30" "420" "0" "420" "0" "c.420C>T" "r.(?)" "p.(Leu140=)" "" "0000659338" "00000669" "30" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Gly407Arg)" "" "0000668142" "00000669" "70" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Ala236Thr)" "" "0000682472" "00000669" "30" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Val72=)" "" "0000693620" "00000669" "30" "538" "0" "538" "0" "c.538C>A" "r.(?)" "p.(His180Asn)" "" "0000693621" "00000669" "30" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Pro460Ser)" "" "0000708483" "00000669" "70" "71" "0" "71" "0" "c.71C>A" "r.(?)" "p.(Ser24Tyr)" "" "0000728966" "00000669" "50" "7" "0" "7" "0" "c.7G>A" "r.(?)" "p.(Gly3Arg)" "" "0000728967" "00000669" "30" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Ala350Val)" "" "0000810448" "00000669" "90" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Glu133Lys)" "" "0000810449" "00000669" "30" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Leu174Phe)" "" "0000810450" "00000669" "50" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Pro402Leu)" "" "0000856647" "00000669" "30" "912" "0" "912" "0" "c.912G>A" "r.(?)" "p.(Arg304=)" "" "0000856648" "00000669" "50" "1181" "0" "1181" "0" "c.1181C>T" "r.(?)" "p.(Pro394Leu)" "" "0000867407" "00000669" "10" "273" "11" "273" "11" "c.273+11dup" "r.(=)" "p.(=)" "" "0000867408" "00000669" "30" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Glu131Lys)" "" "0000867409" "00000669" "50" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Pro192Leu)" "" "0000869874" "00000669" "70" "1377" "0" "1378" "0" "c.1377_1378dup" "r.(?)" "p.(Pro460Hisfs*12)" "11" "0000896259" "00000669" "30" "995" "0" "995" "0" "c.995T>C" "r.(?)" "p.(Val332Ala)" "" "0000896260" "00000669" "30" "1299" "0" "1299" "0" "c.1299G>A" "r.(?)" "p.(Ala433=)" "" "0000915728" "00000669" "50" "623" "0" "623" "0" "c.623C>T" "r.(?)" "p.(Thr208Met)" "" "0000915729" "00000669" "30" "1454" "-12" "1454" "-12" "c.1454-12C>A" "r.(=)" "p.(=)" "" "0000920252" "00000669" "70" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Gly70Arg)" "2" "0000920283" "00000669" "50" "1181" "0" "1181" "0" "c.1181C>T" "r.(?)" "p.(Pro394Leu)" "10" "0000927383" "00000669" "30" "273" "10" "273" "11" "c.273+10_273+11dup" "r.(=)" "p.(=)" "" "0000931424" "00000669" "50" "794" "0" "794" "0" "c.794C>G" "r.(?)" "p.(Pro265Arg)" "" "0000951765" "00000669" "30" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "" "0000984714" "00000669" "10" "1299" "0" "1299" "0" "c.1299G>A" "r.(?)" "p.(Ala433=)" "" "0001006782" "00000669" "30" "273" "10" "273" "11" "c.273+10_273+11dup" "r.(=)" "p.(=)" "" "0001006783" "00000669" "30" "559" "3" "559" "3" "c.559+3G>A" "r.spl?" "p.?" "" "0001006784" "00000669" "90" "713" "0" "713" "0" "c.713T>C" "r.(?)" "p.(Ile238Thr)" "" "0001016037" "00000669" "50" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Gly89Asp)" "" "0001016038" "00000669" "30" "995" "0" "995" "0" "c.995T>C" "r.(?)" "p.(Val332Ala)" "" "0001027505" "00000669" "30" "135" "0" "135" "0" "c.135G>T" "r.(?)" "p.(=)" "" "0001027506" "00000669" "30" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Pro460Ser)" "" "0001030016" "00000669" "70" "248" "0" "250" "0" "c.248_250del" "r.(?)" "p.(Tyr83del)" "" "0001044360" "00000669" "50" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006818" "0000000209" "0000006819" "0000000210" "0000008895" "0000000210" "0000014787" "0000144119" "0000234559" "0000304649" "0000668142" "0000412527" "0000869874" "0000434495" "0000920252" "0000434529" "0000920283" "0000466162" "0001030016"