### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STAT5B) # 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}}" "STAT5B" "signal transducer and activator of transcription 5B" "17" "q11.2" "unknown" "NG_007271.1" "UD_132118748865" "" "https://www.LOVD.nl/STAT5B" "STAT5Bbase " "1" "11367" "6777" "604260" "1" "1" "1" "1" "We gratefully acknowledge the efforts of Gerard Schaafsma, curating this database until 2021.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden (Nederland) with the help of the Growth Genetics Consortium." "" "g" "http://databases.lovd.nl/shared/refseq/STAT5B_codingDNA.html" "1" "" "A Growth Genetics Consortium gene variant database.\r\n
\r\n
\r\n" "-1" "" "-1" "00001" "2008-06-13 00:00:00" "00006" "2022-06-27 16:06:01" "00000" "2025-07-08 13:22:38" ## 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}}" "00020441" "STAT5B" "signal transducer and activator of transcription 5B" "001" "NM_012448.3" "" "NP_036580.2" "" "" "" "-169" "4925" "2364" "40428424" "40351195" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "01890" "-" "growth hormone insensitivity with immunodeficiency" "" "245590" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "04679" "PML" "leukemia, acute promyelocytic, somatic (PML)" "" "102578" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2016-10-22 17:54:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "STAT5B" "01890" "STAT5B" "04679" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00079753" "" "" "" "1" "" "00006" "{PMID:Kofoed 2003:13679528}" "2-generation family ({FILE13679528fam.jpg:pedigree})" "F" "yes" "Argentina" "" "0" "" "" "" "" "00079754" "" "" "" "1" "" "00006" "{PMID:Hwa 2005:15827093}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00079755" "" "" "" "1" "" "00006" "{PMID:Bernasconi 2006:17030597}" "" "F" "no" "Argentina" "" "0" "" "" "" "" "00079756" "" "" "" "1" "" "00006" "{PMID:Vidarsdottir 2006:16787985}" "" "M" "?" "Netherlands Antilles" "" "0" "" "" "" "" "00079757" "" "" "00079758" "1" "" "00006" "{PMID:Hwa 2007:17389811}" "sibling of STAT5B_000006" "F" "yes" "Kuwait" "" "0" "" "" "" "" "00079758" "" "" "" "2" "" "00006" "{PMID:Hwa 2007:17389811}" "2-generation family, 2 affected, sister of STAT5B_000005" "F" "yes" "Kuwait" "" "0" "" "" "" "" "00081802" "" "" "" "1" "" "00006" "{PMID:Scaglia 2012:22419735}" "adopted" "F" "" "Argentina" "" "0" "" "" "" "" "00081803" "" "" "" "1" "" "00006" "{PMID:Rajala 2013:23596048}" "" "" "" "" "" "0" "" "" "" "" "00081804" "" "" "" "1" "" "00006" "{PMID:Rajala 2013:23596048}" "" "" "" "" "" "0" "" "" "" "" "00269862" "" "" "" "2" "" "00006" "{PMID:Pugliese-Pires 2010:20538865}" "2-generation family, 2 affected brothers unaffected heterozygous carrier parents" "M" "" "Brazil" "" "0" "" "" "" "Fam" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00079753" "01890" "00079754" "01890" "00079755" "01890" "00079756" "01890" "00079757" "01890" "00079758" "01890" "00081802" "01890" "00081803" "00198" "00081804" "00198" "00269862" "01890" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01890, 04679 ## Count = 10 "{{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}}" "0000059464" "01890" "00079753" "00006" "Familial, autosomal recessive" "" "severe postnatal growth failure; developmental delay; severe pulmonary infections, incl. lymphoid interstitial pneumonia (LIP) at 7y and 10y; lymphopenia; growth hormone insensitivity with immunodeficiency; chronic Infection" "" "" "" "" "" "" "" "" "" "" "" "0000059465" "01890" "00079754" "00006" "Familial, autosomal recessive" "16y05m" "growth hormone insensitivity with immunodeficiency, severe growth failure, history of pruritic skin lesions,recurrent pulmonary infections" "" "" "" "" "" "" "" "" "" "" "" "0000059466" "01890" "00079755" "00006" "Familial, autosomal recessive" "15y04m" "growth hormone insensitivity with immunodeficiency, generalized excema, recurrent severe infections of the skin and respiratory tract that required episodes of hospitalization, recurrent episodes of pneumonia, chronic\r\ndiarrhea, prolonged varicella complicated with bacterial infection, recurrent herpes zoster keratitis and uveitis of the left eye with progressive loss of visual activity, chronic lung disease with signs of chronic hypoxemia, congenital GH deficiency; persistently low growth rate and\r\nsevere growth failure, prominent forehead, saddle nose, and high-pitched voice" "" "" "" "" "" "" "" "" "" "" "" "0000059467" "01890" "00079756" "00006" "Familial, autosomal recessive" "31y" "growth hormone insensitivity with immunodeficiency, short stature, congenital ichthyosis, hemorrhagic chickenpox; no signs of immunodeficiency" "" "" "" "" "" "" "" "" "" "" "" "0000059468" "01890" "00079757" "00006" "Familial, autosomal recessive" "" "growth hormone insensitivity, immunodeficiency?" "" "" "" "" "" "" "" "" "" "" "" "0000059469" "01890" "00079758" "00006" "Familial, autosomal recessive" "" "growth hormone insensitivity with immunodeficiency, JIA" "" "" "" "" "" "" "" "" "" "" "" "0000088127" "00198" "00081804" "00006" "Unknown" "" "large granular lymphocytic leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000088128" "01890" "00081802" "00006" "Familial, autosomal recessive" "14y10m" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000088129" "00198" "00081803" "00006" "Unknown" "" "large granular lymphocytic leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000207656" "01890" "00269862" "00006" "Familial, autosomal recessive" "" "see paper; ..., growth hormone insensitivity, hyperprolactinemia, immune dysfunction" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000079827" "00079753" "1" "00006" "00006" "2008-11-08 00:04:20" "00002" "2009-08-14 18:10:26" "SEQ" "DNA" "" "" "0000079828" "00079754" "1" "00006" "00006" "2008-11-08 01:03:42" "00006" "2008-11-08 02:17:27" "SEQ" "DNA" "" "" "0000079829" "00079755" "1" "00006" "00006" "2008-11-08 02:53:56" "" "" "SEQ" "DNA" "" "" "0000079830" "00079756" "1" "00006" "00006" "2008-11-08 03:23:00" "" "" "SEQ" "DNA" "" "" "0000079831" "00079757" "1" "00006" "00006" "2008-11-08 04:02:59" "" "" "SEQ" "DNA" "" "" "0000079832" "00079758" "1" "00006" "00006" "2008-11-08 04:12:41" "" "" "SEQ" "DNA" "" "" "0000081932" "00081802" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081933" "00081803" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081934" "00081804" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000271015" "00269862" "1" "00006" "00006" "2019-12-08 11:36:45" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000079827" "STAT5B" "0000079828" "STAT5B" "0000079829" "STAT5B" "0000079830" "STAT5B" "0000079831" "STAT5B" "0000079832" "STAT5B" "0000081932" "STAT5B" "0000081933" "STAT3" "0000081934" "STAT5B" "0000271015" "STAT5B" ## 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 = 121 "{{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}}" "0000128610" "3" "90" "17" "40362207" "40362207" "subst" "0" "00006" "STAT5B_000001" "g.40362207C>G" "" "{PMID:Kofoed 2003:13679528}" "" "A630P" "poorly expressed in primary dermal fibroblasts, lack biological function; in primary T-lymphocytes dysregulation of Treg activity" "Germline" "" "" "0" "" "" "g.42210189C>G" "" "pathogenic (recessive)" "" "0000128611" "3" "90" "17" "40369461" "40369461" "dup" "0" "00006" "STAT5B_000002" "g.40369461dup" "" "{PMID:Hwa 2005:15827093}" "" "1191insG" "" "Germline" "" "" "0" "" "" "g.42217443dup" "" "pathogenic (recessive)" "" "0000128612" "3" "90" "17" "40375496" "40375496" "subst" "0" "00006" "STAT5B_000003" "g.40375496G>A" "" "{PMID:Bernasconi 2006:17030597}" "" "R152X" "" "Germline" "" "" "0" "" "" "g.42223478G>A" "" "pathogenic (recessive)" "" "0000128614" "3" "90" "17" "40364003" "40364003" "del" "0" "00006" "STAT5B_000005" "g.40364003del" "" "{PMID:Hwa 2007:17389811}" "" "1680delG" "" "Germline" "" "" "0" "" "" "g.42211985del" "" "pathogenic (recessive)" "" "0000128615" "3" "90" "17" "40364003" "40364003" "del" "0" "00006" "STAT5B_000005" "g.40364003del" "" "{PMID:Hwa 2007:17389811}" "" "1680delG" "" "Germline" "" "" "0" "" "" "g.42211985del" "" "pathogenic (recessive)" "" "0000128763" "3" "90" "17" "40370243" "40370243" "dup" "0" "00006" "STAT5B_000004" "g.40370243dup" "" "{PMID:Vidarsdottir 2006:16787985}" "" "1102_3insC" "" "Germline" "" "" "0" "" "" "g.42218225dup" "" "pathogenic (recessive)" "" "0000132635" "3" "70" "17" "40359716" "40359716" "subst" "0" "00006" "STAT5B_000007" "g.40359716A>G" "" "{PMID:Scaglia 2012:22419735}" "" "" "" "Germline" "" "" "0" "" "" "g.42207698A>G" "" "likely pathogenic (recessive)" "" "0000132636" "0" "50" "17" "40359659" "40359659" "subst" "0" "00006" "STAT5B_000006" "g.40359659T>A" "" "{PMID:Rajala 2013:23596048}" "" "" "" "Germline" "" "" "0" "" "" "g.42207641T>A" "" "VUS" "" "0000132637" "0" "50" "17" "40359729" "40359729" "subst" "4.06072E-6" "00006" "STAT5B_000008" "g.40359729T>G" "" "{PMID:Rajala 2013:23596048}" "" "" "" "Germline" "" "" "0" "" "" "g.42207711T>G" "" "VUS" "" "0000254316" "0" "30" "17" "40354392" "40354392" "subst" "0" "01943" "STAT5B_000012" "g.40354392A>G" "" "" "" "STAT5B(NM_012448.3):c.2203T>C (p.C735R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42202374A>G" "" "likely benign" "" "0000314174" "0" "30" "17" "40353768" "40353768" "subst" "6.90462E-5" "02326" "STAT5B_000011" "g.40353768G>A" "" "" "" "STAT5B(NM_012448.3):c.2352C>T (p.H784=, p.(His784=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42201750G>A" "" "likely benign" "" "0000314175" "0" "10" "17" "40375589" "40375589" "subst" "0.00132843" "02326" "STAT5B_000018" "g.40375589G>C" "" "" "" "STAT5B(NM_012448.3):c.376-15C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42223571G>C" "" "benign" "" "0000315793" "0" "50" "17" "40370239" "40370239" "subst" "4.06081E-6" "01943" "STAT5B_000016" "g.40370239G>T" "" "" "" "STAT5B(NM_012448.3):c.1099C>A (p.P367T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42218221G>T" "" "VUS" "" "0000315794" "0" "50" "17" "40364190" "40364190" "subst" "4.06065E-6" "01943" "STAT5B_000015" "g.40364190C>T" "" "" "" "STAT5B(NM_012448.3):c.1492G>A (p.V498M, p.(Val498Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42212172C>T" "" "VUS" "" "0000315795" "0" "90" "17" "40362515" "40362515" "subst" "0" "01943" "STAT5B_000014" "g.40362515C>A" "" "" "" "STAT5B(NM_012448.3):c.1681G>T (p.E561*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42210497C>A" "" "pathogenic" "" "0000315796" "0" "10" "17" "40370786" "40370786" "subst" "0.00229739" "01943" "STAT5B_000017" "g.40370786T>G" "" "" "" "STAT5B(NM_012448.3):c.944A>C (p.E315A, p.(Glu315Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42218768T>G" "" "benign" "" "0000561457" "0" "30" "17" "40353768" "40353768" "subst" "6.90462E-5" "01943" "STAT5B_000011" "g.40353768G>A" "" "" "" "STAT5B(NM_012448.3):c.2352C>T (p.H784=, p.(His784=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42201750G>A" "" "likely benign" "" "0000561458" "0" "10" "17" "40354343" "40354343" "subst" "0.00306836" "01804" "STAT5B_000019" "g.40354343A>G" "" "" "" "STAT5B(NM_012448.3):c.2237+15T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42202325A>G" "" "benign" "" "0000561459" "0" "30" "17" "40354423" "40354423" "subst" "0" "01943" "STAT5B_000020" "g.40354423C>G" "" "" "" "STAT5B(NM_012448.3):c.2172G>C (p.T724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42202405C>G" "" "likely benign" "" "0000561460" "0" "30" "17" "40354786" "40354786" "subst" "4.06058E-6" "01804" "STAT5B_000021" "g.40354786T>C" "" "" "" "STAT5B(NM_012448.3):c.2118A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42202768T>C" "" "likely benign" "" "0000561461" "0" "30" "17" "40370237" "40370237" "subst" "0.0255611" "01804" "STAT5B_000022" "g.40370237G>T" "" "" "" "STAT5B(NM_012448.3):c.1101C>A (p.(Pro367=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42218219G>T" "" "likely benign" "" "0000561462" "0" "90" "17" "40370243" "40370243" "dup" "0" "01804" "STAT5B_000004" "g.40370243dup" "" "" "" "STAT5B(NM_012448.3):c.1102dup (p.(Gln368Profs*9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42218225dup" "" "pathogenic" "" "0000561463" "0" "10" "17" "40370345" "40370345" "subst" "0.00357508" "01804" "STAT5B_000023" "g.40370345C>T" "" "" "" "STAT5B(NM_012448.3):c.993G>A (p.(Thr331=), p.T331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42218327C>T" "" "benign" "" "0000561465" "0" "50" "17" "40370894" "40370894" "subst" "0" "01804" "STAT5B_000025" "g.40370894C>T" "" "" "" "STAT5B(NM_012448.3):c.836G>A (p.(Cys279Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42218876C>T" "" "VUS" "" "0000561466" "0" "30" "17" "40371314" "40371314" "subst" "1.54963E-5" "02326" "STAT5B_000026" "g.40371314C>T" "" "" "" "STAT5B(NM_012448.3):c.833+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42219296C>T" "" "likely benign" "" "0000561467" "0" "30" "17" "40371374" "40371374" "subst" "0.000615006" "01804" "STAT5B_000027" "g.40371374C>T" "" "" "" "STAT5B(NM_012448.3):c.789G>A (p.(Gly263=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42219356C>T" "" "likely benign" "" "0000561468" "0" "10" "17" "40371473" "40371473" "subst" "0.000803917" "01804" "STAT5B_000028" "g.40371473G>A" "" "" "" "STAT5B(NM_012448.3):c.690C>T (p.(Ala230=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42219455G>A" "" "benign" "" "0000561469" "0" "50" "17" "40371822" "40371822" "subst" "4.06805E-6" "01804" "STAT5B_000029" "g.40371822G>A" "" "" "" "STAT5B(NM_012448.3):c.589C>T (p.(Arg197Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42219804G>A" "" "VUS" "" "0000561470" "0" "30" "17" "40371865" "40371865" "subst" "0.00163405" "01943" "STAT5B_000030" "g.40371865A>G" "" "" "" "STAT5B(NM_012448.3):c.551-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42219847A>G" "" "likely benign" "" "0000561471" "0" "30" "17" "40371865" "40371865" "subst" "0.00163405" "01804" "STAT5B_000030" "g.40371865A>G" "" "" "" "STAT5B(NM_012448.3):c.551-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42219847A>G" "" "likely benign" "" "0000561472" "0" "30" "17" "40375589" "40375589" "subst" "0.00132843" "01804" "STAT5B_000018" "g.40375589G>C" "" "" "" "STAT5B(NM_012448.3):c.376-15C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42223571G>C" "" "likely benign" "" "0000561473" "0" "30" "17" "40376780" "40376780" "subst" "0.00209307" "01804" "STAT5B_000031" "g.40376780C>T" "" "" "" "STAT5B(NM_012448.3):c.375+17G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42224762C>T" "" "likely benign" "" "0000561474" "0" "50" "17" "40376874" "40376874" "subst" "6.90681E-5" "01943" "STAT5B_000032" "g.40376874G>A" "" "" "" "STAT5B(NM_012448.3):c.298C>T (p.R100C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42224856G>A" "" "VUS" "" "0000561475" "0" "30" "17" "40379535" "40379535" "subst" "0.00066347" "01804" "STAT5B_000033" "g.40379535G>A" "" "" "" "STAT5B(NM_012448.3):c.285+12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42227517G>A" "" "likely benign" "" "0000561476" "0" "30" "17" "40379585" "40379585" "subst" "0.00496153" "01804" "STAT5B_000034" "g.40379585G>A" "" "" "" "STAT5B(NM_012448.3):c.247C>T (p.(Leu83=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42227567G>A" "" "likely benign" "" "0000616546" "0" "30" "17" "40384074" "40384074" "subst" "4.06058E-6" "01943" "STAT5B_000036" "g.40384074C>T" "" "" "" "STAT5B(NM_012448.3):c.72G>A (p.Q24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42232056C>T" "" "likely benign" "" "0000624853" "3" "90" "17" "40375524" "40375527" "del" "0" "00006" "STAT5B_000035" "g.40375524_40375527del" "" "{PMID:Pugliese-Pires 2010:20538865}" "" "424_427delCTCC" "" "Germline" "yes" "" "0" "" "" "g.42223506_42223509del" "" "pathogenic (recessive)" "" "0000658112" "0" "70" "17" "40359730" "40359730" "subst" "0" "01804" "STAT5B_000037" "g.40359730C>G" "" "" "" "STAT5B(NM_012448.3):c.1923G>C (p.(Trp641Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42207712C>G" "" "likely pathogenic" "" "0000658113" "0" "30" "17" "40369376" "40369376" "subst" "0" "02326" "STAT5B_000038" "g.40369376C>T" "" "" "" "STAT5B(NM_012448.3):c.1257+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42217358C>T" "" "likely benign" "" "0000658114" "0" "50" "17" "40370280" "40370280" "subst" "0.00018679" "01943" "STAT5B_000039" "g.40370280C>T" "" "" "" "STAT5B(NM_012448.3):c.1058G>A (p.R353H, p.(Arg353His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42218262C>T" "" "VUS" "" "0000692337" "0" "30" "17" "40369223" "40369223" "subst" "0.00052818" "02326" "STAT5B_000040" "g.40369223T>C" "" "" "" "STAT5B(NM_012448.3):c.1335A>G (p.(Glu445=), p.E445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692338" "0" "50" "17" "40370182" "40370182" "subst" "0" "02327" "STAT5B_000041" "g.40370182C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726349" "0" "50" "17" "40359681" "40359681" "subst" "8.1213E-6" "01804" "STAT5B_000042" "g.40359681C>T" "" "" "" "STAT5B(NM_012448.3):c.1972G>A (p.(Asp658Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726350" "0" "50" "17" "40359729" "40359729" "subst" "4.06072E-6" "01943" "STAT5B_000008" "g.40359729T>G" "" "" "" "STAT5B(NM_012448.3):c.1924A>C (p.N642H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726351" "0" "30" "17" "40362418" "40362418" "subst" "4.06065E-6" "01804" "STAT5B_000043" "g.40362418C>T" "" "" "" "STAT5B(NM_012448.3):c.1775+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726352" "0" "30" "17" "40375392" "40375392" "subst" "4.87385E-5" "01943" "STAT5B_000044" "g.40375392C>T" "" "" "" "STAT5B(NM_012448.3):c.550+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807958" "0" "50" "17" "40354783" "40354783" "subst" "1.21818E-5" "01804" "STAT5B_000045" "g.40354783C>T" "" "" "" "STAT5B(NM_012448.3):c.2121G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854881" "0" "50" "17" "40369257" "40369257" "subst" "0" "01943" "STAT5B_000060" "g.40369257G>A" "" "" "" "STAT5B(NM_012448.3):c.1301C>T (p.S434L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854882" "0" "30" "17" "40371344" "40371344" "subst" "0" "01943" "STAT5B_000063" "g.40371344G>A" "" "" "" "STAT5B(NM_012448.3):c.819C>T (p.D273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854883" "0" "30" "17" "40376780" "40376780" "subst" "0.00209307" "02326" "STAT5B_000031" "g.40376780C>T" "" "" "" "STAT5B(NM_012448.3):c.375+17G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854884" "0" "30" "17" "40379604" "40379604" "subst" "8.13101E-6" "02326" "STAT5B_000069" "g.40379604C>G" "" "" "" "STAT5B(NM_012448.3):c.228G>C (p.V76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865214" "0" "30" "17" "40353762" "40353762" "subst" "2.43675E-5" "01804" "STAT5B_000046" "g.40353762T>C" "" "" "" "STAT5B(NM_012448.3):c.2358A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865215" "0" "30" "17" "40353828" "40353828" "subst" "0.000101698" "01804" "STAT5B_000047" "g.40353828G>A" "" "" "" "STAT5B(NM_012448.3):c.2292C>T (p.(Asp764=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865216" "0" "50" "17" "40354377" "40354377" "subst" "0" "01804" "STAT5B_000048" "g.40354377A>G" "" "" "" "STAT5B(NM_012448.3):c.2218T>C (p.(Tyr740His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865217" "0" "50" "17" "40354409" "40354409" "subst" "0" "01804" "STAT5B_000049" "g.40354409G>T" "" "" "" "STAT5B(NM_012448.3):c.2186C>A (p.(Ala729Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865218" "0" "30" "17" "40354835" "40354835" "subst" "0.000243633" "01804" "STAT5B_000050" "g.40354835G>A" "" "" "" "STAT5B(NM_012448.3):c.2078-9C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865219" "0" "30" "17" "40359564" "40359564" "subst" "0.000897703" "01804" "STAT5B_000051" "g.40359564G>A" "" "" "" "STAT5B(NM_012448.3):c.2077+12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865220" "0" "30" "17" "40359649" "40359649" "subst" "9.7454E-5" "01943" "STAT5B_000052" "g.40359649G>A" "" "" "" "STAT5B(NM_012448.3):c.2004C>T (p.Y668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865221" "0" "30" "17" "40359682" "40359682" "subst" "0.000125881" "01804" "STAT5B_000053" "g.40359682G>A" "" "" "" "STAT5B(NM_012448.3):c.1971C>T (p.(Ala657=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865222" "0" "70" "17" "40362188" "40362188" "subst" "0" "01804" "STAT5B_000054" "g.40362188C>T" "" "" "" "STAT5B(NM_012448.3):c.1906+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865223" "0" "50" "17" "40362208" "40362208" "subst" "4.06055E-6" "01804" "STAT5B_000055" "g.40362208A>G" "" "" "" "STAT5B(NM_012448.3):c.1887T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865224" "0" "10" "17" "40362471" "40362471" "subst" "0.000609152" "01804" "STAT5B_000056" "g.40362471G>A" "" "" "" "STAT5B(NM_012448.3):c.1725C>T (p.(Asp575=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865225" "0" "30" "17" "40364038" "40364038" "subst" "3.66922E-5" "01804" "STAT5B_000057" "g.40364038G>A" "" "" "" "STAT5B(NM_012448.3):c.1644C>T (p.(Tyr548=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865226" "0" "30" "17" "40364191" "40364191" "subst" "1.21819E-5" "01804" "STAT5B_000058" "g.40364191G>A" "" "" "" "STAT5B(NM_012448.3):c.1491C>T (p.(Ala497=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865227" "0" "70" "17" "40369177" "40369177" "subst" "0" "01804" "STAT5B_000059" "g.40369177C>A" "" "" "" "STAT5B(NM_012448.3):c.1380+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865228" "0" "30" "17" "40370786" "40370786" "subst" "0.00229739" "01804" "STAT5B_000017" "g.40370786T>G" "" "" "" "STAT5B(NM_012448.3):c.944A>C (p.E315A, p.(Glu315Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865229" "0" "30" "17" "40370791" "40370791" "subst" "0" "01804" "STAT5B_000061" "g.40370791C>T" "" "" "" "STAT5B(NM_012448.3):c.939G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865230" "0" "30" "17" "40370887" "40370887" "subst" "0" "01804" "STAT5B_000062" "g.40370887C>T" "" "" "" "STAT5B(NM_012448.3):c.843G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865231" "0" "30" "17" "40371368" "40371368" "subst" "0.000218004" "01804" "STAT5B_000064" "g.40371368G>A" "" "" "" "STAT5B(NM_012448.3):c.795C>T (p.(Gly265=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865232" "0" "30" "17" "40371391" "40371391" "subst" "3.84152E-5" "01804" "STAT5B_000065" "g.40371391G>A" "" "" "" "STAT5B(NM_012448.3):c.772C>T (p.(Arg258Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865233" "0" "50" "17" "40371401" "40371412" "del" "0" "01804" "STAT5B_000066" "g.40371401_40371412del" "" "" "" "STAT5B(NM_012448.3):c.751_762del (p.(Glu251_Gln254del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865234" "0" "30" "17" "40379552" "40379552" "subst" "0.000313212" "01804" "STAT5B_000067" "g.40379552G>A" "" "" "" "STAT5B(NM_012448.3):c.280C>T (p.(Leu94Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865235" "0" "50" "17" "40379585" "40379585" "subst" "0" "01804" "STAT5B_000068" "g.40379585G>C" "" "" "" "STAT5B(NM_012448.3):c.247C>G (p.(Leu83Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865236" "0" "30" "17" "40379661" "40379661" "subst" "0.00021529" "01804" "STAT5B_000070" "g.40379661G>A" "" "" "" "STAT5B(NM_012448.3):c.171C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865237" "0" "50" "17" "40379689" "40379689" "subst" "0" "01804" "STAT5B_000071" "g.40379689A>T" "" "" "" "STAT5B(NM_012448.3):c.143T>A (p.(Leu48His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865238" "0" "50" "17" "40384084" "40384084" "subst" "0" "01804" "STAT5B_000072" "g.40384084A>G" "" "" "" "STAT5B(NM_012448.3):c.62T>C (p.(Leu21Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893551" "0" "30" "17" "40359718" "40359718" "subst" "0" "01804" "STAT5B_000073" "g.40359718A>G" "" "" "" "STAT5B(NM_012448.3):c.1935T>C (p.(Pro645=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893552" "0" "50" "17" "40362451" "40362451" "subst" "0" "01804" "STAT5B_000074" "g.40362451T>C" "" "" "" "STAT5B(NM_012448.3):c.1745A>G (p.(Lys582Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893553" "0" "70" "17" "40364190" "40364190" "subst" "4.06065E-6" "01804" "STAT5B_000015" "g.40364190C>T" "" "" "" "STAT5B(NM_012448.3):c.1492G>A (p.V498M, p.(Val498Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000893554" "0" "50" "17" "40370307" "40370307" "subst" "0" "02327" "STAT5B_000075" "g.40370307G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893555" "0" "30" "17" "40370786" "40370786" "subst" "0.00229739" "02326" "STAT5B_000017" "g.40370786T>G" "" "" "" "STAT5B(NM_012448.3):c.944A>C (p.E315A, p.(Glu315Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893556" "0" "50" "17" "40371424" "40371424" "subst" "0" "02329" "STAT5B_000076" "g.40371424T>C" "" "" "" "STAT5B(NM_012448.4):c.739A>G (p.I247V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893557" "0" "30" "17" "40371448" "40371448" "subst" "0" "01804" "STAT5B_000077" "g.40371448G>C" "" "" "" "STAT5B(NM_012448.3):c.715C>G (p.(Leu239Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893558" "0" "30" "17" "40376815" "40376815" "subst" "4.06098E-6" "01804" "STAT5B_000078" "g.40376815C>G" "" "" "" "STAT5B(NM_012448.3):c.357G>C (p.(Leu119Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914808" "0" "30" "17" "40364016" "40364016" "subst" "8.22707E-6" "01804" "STAT5B_000079" "g.40364016A>T" "" "" "" "STAT5B(NM_012448.3):c.1666T>A (p.(Ser556Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914809" "0" "30" "17" "40370282" "40370282" "subst" "8.12123E-6" "01804" "STAT5B_000080" "g.40370282C>T" "" "" "" "STAT5B(NM_012448.3):c.1056G>A (p.(Val352=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914810" "0" "30" "17" "40370285" "40370285" "subst" "8.1213E-6" "01804" "STAT5B_000081" "g.40370285A>G" "" "" "" "STAT5B(NM_012448.3):c.1053T>C (p.(Thr351=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926471" "0" "30" "17" "40354410" "40354410" "subst" "0.000349372" "01804" "STAT5B_000082" "g.40354410C>A" "" "" "" "STAT5B(NM_012448.3):c.2185G>T (p.(Ala729Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926472" "0" "30" "17" "40369223" "40369223" "subst" "0.00052818" "01804" "STAT5B_000040" "g.40369223T>C" "" "" "" "STAT5B(NM_012448.3):c.1335A>G (p.(Glu445=), p.E445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926473" "0" "30" "17" "40370345" "40370345" "subst" "0.00357508" "02326" "STAT5B_000023" "g.40370345C>T" "" "" "" "STAT5B(NM_012448.3):c.993G>A (p.(Thr331=), p.T331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930756" "0" "50" "17" "40353796" "40353796" "subst" "4.46944E-5" "01804" "STAT5B_000083" "g.40353796C>T" "" "" "" "STAT5B(NM_012448.3):c.2324G>A (p.(Arg775Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930757" "0" "30" "17" "40354844" "40354844" "subst" "4.06058E-6" "01804" "STAT5B_000084" "g.40354844T>C" "" "" "" "STAT5B(NM_012448.3):c.2078-18A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930758" "0" "30" "17" "40369384" "40369384" "subst" "0.000243633" "01804" "STAT5B_000085" "g.40369384T>G" "" "" "" "STAT5B(NM_012448.3):c.1257+11A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950868" "0" "30" "17" "40371315" "40371315" "subst" "0" "01804" "STAT5B_000086" "g.40371315G>A" "" "" "" "STAT5B(NM_012448.3):c.833+15C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950869" "0" "50" "17" "40371401" "40371412" "del" "0" "02327" "STAT5B_000066" "g.40371401_40371412del" "" "" "" "STAT5B(NM_012448.3):c.751_762del (p.(Glu251_Gln254del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950870" "0" "30" "17" "40375392" "40375392" "subst" "4.87385E-5" "01804" "STAT5B_000044" "g.40375392C>T" "" "" "" "STAT5B(NM_012448.3):c.550+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950871" "0" "30" "17" "40379717" "40379717" "dup" "0" "01804" "STAT5B_000087" "g.40379717dup" "" "" "" "STAT5B(NM_012448.3):c.129-8dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968872" "0" "30" "17" "40354429" "40354429" "subst" "1.21868E-5" "01804" "STAT5B_000088" "g.40354429G>A" "" "" "" "STAT5B(NM_012448.3):c.2166C>T (p.(Ser722=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968873" "0" "50" "17" "40370280" "40370280" "subst" "0.00018679" "01804" "STAT5B_000039" "g.40370280C>T" "" "" "" "STAT5B(NM_012448.3):c.1058G>A (p.R353H, p.(Arg353His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968874" "0" "30" "17" "40371774" "40371774" "subst" "7.54192E-5" "01804" "STAT5B_000089" "g.40371774C>A" "" "" "" "STAT5B(NM_012448.3):c.637G>T (p.(Ala213Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968875" "0" "50" "17" "40375534" "40375534" "subst" "0" "01804" "STAT5B_000090" "g.40375534T>G" "" "" "" "STAT5B(NM_012448.3):c.416A>C (p.(Gln139Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982482" "0" "30" "17" "40354473" "40354473" "subst" "2.03812E-5" "01804" "STAT5B_000091" "g.40354473A>T" "" "" "" "STAT5B(NM_012448.3):c.2130-8T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982483" "0" "30" "17" "40362441" "40362441" "subst" "7.30905E-5" "01804" "STAT5B_000092" "g.40362441G>A" "" "" "" "STAT5B(NM_012448.3):c.1755C>T (p.(Leu585=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982484" "0" "30" "17" "40364131" "40364131" "subst" "1.62429E-5" "01804" "STAT5B_000093" "g.40364131G>A" "" "" "" "STAT5B(NM_012448.3):c.1551C>T (p.(Ala517=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982485" "0" "30" "17" "40369161" "40369161" "subst" "2.14681E-5" "01804" "STAT5B_000094" "g.40369161C>G" "" "" "" "STAT5B(NM_012448.3):c.1380+17G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982486" "0" "30" "17" "40370174" "40370174" "subst" "4.06788E-5" "01804" "STAT5B_000095" "g.40370174G>A" "" "" "" "STAT5B(NM_012448.3):c.1164C>T (p.(Thr388=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003219" "0" "30" "17" "40353768" "40353768" "subst" "6.90462E-5" "01804" "STAT5B_000011" "g.40353768G>A" "" "" "" "STAT5B(NM_012448.3):c.2352C>T (p.H784=, p.(His784=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003220" "0" "30" "17" "40354434" "40354434" "subst" "6.50089E-5" "01804" "STAT5B_000096" "g.40354434C>T" "" "" "" "STAT5B(NM_012448.3):c.2161G>A (p.(Gly721Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003221" "0" "30" "17" "40384053" "40384053" "subst" "0" "01804" "STAT5B_000097" "g.40384053C>A" "" "" "" "STAT5B(NM_012448.3):c.93G>T (p.(Arg31=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026887" "0" "30" "17" "40353786" "40353786" "subst" "2.4371E-5" "01804" "STAT5B_000098" "g.40353786G>A" "" "" "" "STAT5B(NM_012448.3):c.2334C>T (p.(Asp778=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026888" "0" "50" "17" "40370281" "40370281" "subst" "4.87274E-5" "02325" "STAT5B_000099" "g.40370281G>A" "" "" "" "STAT5B(NM_012448.4):c.1057C>T (p.R353C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026889" "0" "30" "17" "40370788" "40370788" "subst" "0" "01804" "STAT5B_000100" "g.40370788G>A" "" "" "" "STAT5B(NM_012448.3):c.942C>T (p.(Ala314=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026890" "0" "50" "17" "40376852" "40376852" "subst" "0" "01804" "STAT5B_000101" "g.40376852C>T" "" "" "" "STAT5B(NM_012448.3):c.320G>A (p.(Arg107His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026891" "0" "30" "17" "40384047" "40384047" "subst" "5.68477E-5" "01804" "STAT5B_000102" "g.40384047A>G" "" "" "" "STAT5B(NM_012448.3):c.99T>C (p.(Tyr33=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041835" "0" "30" "17" "40364212" "40364212" "subst" "4.06105E-6" "01804" "STAT5B_000103" "g.40364212A>G" "" "" "" "STAT5B(NM_012448.4):c.1474-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041836" "0" "50" "17" "40370821" "40370821" "subst" "4.09692E-6" "01804" "STAT5B_000104" "g.40370821C>A" "" "" "" "STAT5B(NM_012448.3):c.909G>T (p.(Leu303=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041837" "0" "50" "17" "40371364" "40371364" "subst" "0" "01804" "STAT5B_000105" "g.40371364G>T" "" "" "" "STAT5B(NM_012448.3):c.799C>A (p.(Pro267Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046624" "0" "30" "17" "40354438" "40354438" "subst" "0" "01804" "STAT5B_000106" "g.40354438C>T" "" "" "" "STAT5B(NM_012448.3):c.2157G>A (p.(Gly719=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046625" "0" "30" "17" "40375476" "40375476" "subst" "2.43651E-5" "01804" "STAT5B_000107" "g.40375476T>C" "" "" "" "STAT5B(NM_012448.3):c.474A>G (p.(Thr158=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046626" "0" "30" "17" "40375521" "40375521" "subst" "0.000219275" "01804" "STAT5B_000108" "g.40375521C>G" "" "" "" "STAT5B(NM_012448.3):c.429G>C (p.(Gln143His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046627" "0" "50" "17" "40384084" "40384084" "subst" "0" "02327" "STAT5B_000072" "g.40384084A>G" "" "" "" "STAT5B(NM_012448.3):c.62T>C (p.(Leu21Ser))" "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 STAT5B ## Count = 121 "{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "{{VariantOnTranscript/VariO/DNA}}" "{{VariantOnTranscript/VariO/Protein}}" "{{VariantOnTranscript/VariO/RNA}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "{{VariantOnTranscript/mRNA_level}}" "{{VariantOnTranscript/Protein_level}}" "0000128610" "00020441" "90" "1888" "0" "1888" "0" "c.1888G>C" "r.1888g>c" "p.Ala630Pro" "15" "" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "0000128611" "00020441" "90" "1191" "0" "1191" "0" "c.1191dup" "r.1191dup" "p.Asn398Glufs*16" "10" "" "DNA insertion (VariO:0142)" "amphigoric amino acid indel (VariO:0023)" "out-of-frame insertion (VariO:0327)" "" "" "" "0000128612" "00020441" "90" "454" "0" "454" "0" "c.454C>T" "r.454c>u" "p.Arg152*" "5" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310)" "" "" "" "0000128614" "00020441" "90" "1680" "1" "1680" "1" "c.1680+1del" "r.spl?" "p.(Glu561Argfs*17)" "13" "" "" "" "" "" "" "" "0000128615" "00020441" "90" "1680" "1" "1680" "1" "c.1680+1del" "r.spl?" "p.(Glu561Argfs*17)" "13" "" "" "" "" "" "" "" "0000128763" "00020441" "90" "1102" "0" "1102" "0" "c.1102dup" "r.1102dup" "p.Gln368Profs*9" "9" "" "DNA insertion (VariO:0142)" "amphigoric amino acid indel (VariO:0023)" "out-of-frame insertion (VariO:0327)" "" "" "" "0000132635" "00020441" "70" "1937" "0" "1937" "0" "c.1937T>C" "r.(?)" "p.(Phe646Ser)" "" "" "" "" "" "" "" "" "0000132636" "00020441" "50" "1994" "0" "1994" "0" "c.1994A>T" "r.(?)" "p.(Tyr665Phe)" "" "" "" "" "" "" "" "" "0000132637" "00020441" "50" "1924" "0" "1924" "0" "c.1924A>C" "r.(?)" "p.(Asn642His)" "" "" "" "" "" "" "" "" "0000254316" "00020441" "30" "2203" "0" "2203" "0" "c.2203T>C" "r.(?)" "p.(Cys735Arg)" "" "" "" "" "" "" "" "" "0000314174" "00020441" "30" "2352" "0" "2352" "0" "c.2352C>T" "r.(?)" "p.(His784=)" "" "" "" "" "" "" "" "" "0000314175" "00020441" "10" "376" "-15" "376" "-15" "c.376-15C>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000315793" "00020441" "50" "1099" "0" "1099" "0" "c.1099C>A" "r.(?)" "p.(Pro367Thr)" "" "" "" "" "" "" "" "" "0000315794" "00020441" "50" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Val498Met)" "" "" "" "" "" "" "" "" "0000315795" "00020441" "90" "1681" "0" "1681" "0" "c.1681G>T" "r.(?)" "p.(Glu561Ter)" "" "" "" "" "" "" "" "" "0000315796" "00020441" "10" "944" "0" "944" "0" "c.944A>C" "r.(?)" "p.(Glu315Ala)" "" "" "" "" "" "" "" "" "0000561457" "00020441" "30" "2352" "0" "2352" "0" "c.2352C>T" "r.(?)" "p.(His784=)" "" "" "" "" "" "" "" "" "0000561458" "00020441" "10" "2237" "15" "2237" "15" "c.2237+15T>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000561459" "00020441" "30" "2172" "0" "2172" "0" "c.2172G>C" "r.(?)" "p.(Thr724=)" "" "" "" "" "" "" "" "" "0000561460" "00020441" "30" "2118" "0" "2118" "0" "c.2118A>G" "r.(?)" "p.(Gln706=)" "" "" "" "" "" "" "" "" "0000561461" "00020441" "30" "1101" "0" "1101" "0" "c.1101C>A" "r.(?)" "p.(Pro367=)" "" "" "" "" "" "" "" "" "0000561462" "00020441" "90" "1102" "0" "1102" "0" "c.1102dup" "r.(?)" "p.(Gln368ProfsTer9)" "" "" "" "" "" "" "" "" "0000561463" "00020441" "10" "993" "0" "993" "0" "c.993G>A" "r.(?)" "p.(Thr331=)" "" "" "" "" "" "" "" "" "0000561465" "00020441" "50" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Cys279Tyr)" "" "" "" "" "" "" "" "" "0000561466" "00020441" "30" "833" "16" "833" "16" "c.833+16G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000561467" "00020441" "30" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Gly263=)" "" "" "" "" "" "" "" "" "0000561468" "00020441" "10" "690" "0" "690" "0" "c.690C>T" "r.(?)" "p.(Ala230=)" "" "" "" "" "" "" "" "" "0000561469" "00020441" "50" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Arg197Cys)" "" "" "" "" "" "" "" "" "0000561470" "00020441" "30" "551" "-5" "551" "-5" "c.551-5T>C" "r.spl?" "p.?" "" "" "" "" "" "" "" "" "0000561471" "00020441" "30" "551" "-5" "551" "-5" "c.551-5T>C" "r.spl?" "p.?" "" "" "" "" "" "" "" "" "0000561472" "00020441" "30" "376" "-15" "376" "-15" "c.376-15C>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000561473" "00020441" "30" "375" "17" "375" "17" "c.375+17G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000561474" "00020441" "50" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Arg100Cys)" "" "" "" "" "" "" "" "" "0000561475" "00020441" "30" "285" "12" "285" "12" "c.285+12C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000561476" "00020441" "30" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Leu83=)" "" "" "" "" "" "" "" "" "0000616546" "00020441" "30" "72" "0" "72" "0" "c.72G>A" "r.(?)" "p.(Gln24=)" "" "" "" "" "" "" "" "" "0000624853" "00020441" "90" "424" "0" "427" "0" "c.424_427del" "r.(?)" "p.(Leu142Argfs*20)" "" "" "" "" "" "" "" "" "0000658112" "00020441" "70" "1923" "0" "1923" "0" "c.1923G>C" "r.(?)" "p.(Trp641Cys)" "" "" "" "" "" "" "" "" "0000658113" "00020441" "30" "1257" "19" "1257" "19" "c.1257+19G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000658114" "00020441" "50" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353His)" "" "" "" "" "" "" "" "" "0000692337" "00020441" "30" "1335" "0" "1335" "0" "c.1335A>G" "r.(?)" "p.(Glu445=)" "" "" "" "" "" "" "" "" "0000692338" "00020441" "50" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Glu386Lys)" "" "" "" "" "" "" "" "" "0000726349" "00020441" "50" "1972" "0" "1972" "0" "c.1972G>A" "r.(?)" "p.(Asp658Asn)" "" "" "" "" "" "" "" "" "0000726350" "00020441" "50" "1924" "0" "1924" "0" "c.1924A>C" "r.(?)" "p.(Asn642His)" "" "" "" "" "" "" "" "" "0000726351" "00020441" "30" "1775" "3" "1775" "3" "c.1775+3G>A" "r.spl?" "p.?" "" "" "" "" "" "" "" "" "0000726352" "00020441" "30" "550" "8" "550" "8" "c.550+8G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000807958" "00020441" "50" "2121" "0" "2121" "0" "c.2121G>A" "r.(?)" "p.(Val707=)" "" "" "" "" "" "" "" "" "0000854881" "00020441" "50" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Ser434Leu)" "" "" "" "" "" "" "" "" "0000854882" "00020441" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Asp273=)" "" "" "" "" "" "" "" "" "0000854883" "00020441" "30" "375" "17" "375" "17" "c.375+17G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000854884" "00020441" "30" "228" "0" "228" "0" "c.228G>C" "r.(?)" "p.(Val76=)" "" "" "" "" "" "" "" "" "0000865214" "00020441" "30" "2358" "0" "2358" "0" "c.2358A>G" "r.(?)" "p.(Gln786=)" "" "" "" "" "" "" "" "" "0000865215" "00020441" "30" "2292" "0" "2292" "0" "c.2292C>T" "r.(?)" "p.(Asp764=)" "" "" "" "" "" "" "" "" "0000865216" "00020441" "50" "2218" "0" "2218" "0" "c.2218T>C" "r.(?)" "p.(Tyr740His)" "" "" "" "" "" "" "" "" "0000865217" "00020441" "50" "2186" "0" "2186" "0" "c.2186C>A" "r.(?)" "p.(Ala729Asp)" "" "" "" "" "" "" "" "" "0000865218" "00020441" "30" "2078" "-9" "2078" "-9" "c.2078-9C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000865219" "00020441" "30" "2077" "12" "2077" "12" "c.2077+12C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000865220" "00020441" "30" "2004" "0" "2004" "0" "c.2004C>T" "r.(?)" "p.(Tyr668=)" "" "" "" "" "" "" "" "" "0000865221" "00020441" "30" "1971" "0" "1971" "0" "c.1971C>T" "r.(?)" "p.(Ala657=)" "" "" "" "" "" "" "" "" "0000865222" "00020441" "70" "1906" "1" "1906" "1" "c.1906+1G>A" "r.spl?" "p.?" "" "" "" "" "" "" "" "" "0000865223" "00020441" "50" "1887" "0" "1887" "0" "c.1887T>C" "r.(?)" "p.(Ile629=)" "" "" "" "" "" "" "" "" "0000865224" "00020441" "10" "1725" "0" "1725" "0" "c.1725C>T" "r.(?)" "p.(Asp575=)" "" "" "" "" "" "" "" "" "0000865225" "00020441" "30" "1644" "0" "1644" "0" "c.1644C>T" "r.(?)" "p.(Tyr548=)" "" "" "" "" "" "" "" "" "0000865226" "00020441" "30" "1491" "0" "1491" "0" "c.1491C>T" "r.(?)" "p.(Ala497=)" "" "" "" "" "" "" "" "" "0000865227" "00020441" "70" "1380" "1" "1380" "1" "c.1380+1G>T" "r.spl?" "p.?" "" "" "" "" "" "" "" "" "0000865228" "00020441" "30" "944" "0" "944" "0" "c.944A>C" "r.(?)" "p.(Glu315Ala)" "" "" "" "" "" "" "" "" "0000865229" "00020441" "30" "939" "0" "939" "0" "c.939G>A" "r.(?)" "p.(Leu313=)" "" "" "" "" "" "" "" "" "0000865230" "00020441" "30" "843" "0" "843" "0" "c.843G>A" "r.(?)" "p.(Lys281=)" "" "" "" "" "" "" "" "" "0000865231" "00020441" "30" "795" "0" "795" "0" "c.795C>T" "r.(?)" "p.(Gly265=)" "" "" "" "" "" "" "" "" "0000865232" "00020441" "30" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" "" "" "" "" "" "" "" "" "0000865233" "00020441" "50" "751" "0" "762" "0" "c.751_762del" "r.(?)" "p.(Glu251_Gln254del)" "" "" "" "" "" "" "" "" "0000865234" "00020441" "30" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Leu94Phe)" "" "" "" "" "" "" "" "" "0000865235" "00020441" "50" "247" "0" "247" "0" "c.247C>G" "r.(?)" "p.(Leu83Val)" "" "" "" "" "" "" "" "" "0000865236" "00020441" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Ala57=)" "" "" "" "" "" "" "" "" "0000865237" "00020441" "50" "143" "0" "143" "0" "c.143T>A" "r.(?)" "p.(Leu48His)" "" "" "" "" "" "" "" "" "0000865238" "00020441" "50" "62" "0" "62" "0" "c.62T>C" "r.(?)" "p.(Leu21Ser)" "" "" "" "" "" "" "" "" "0000893551" "00020441" "30" "1935" "0" "1935" "0" "c.1935T>C" "r.(?)" "p.(Pro645=)" "" "" "" "" "" "" "" "" "0000893552" "00020441" "50" "1745" "0" "1745" "0" "c.1745A>G" "r.(?)" "p.(Lys582Arg)" "" "" "" "" "" "" "" "" "0000893553" "00020441" "70" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Val498Met)" "" "" "" "" "" "" "" "" "0000893554" "00020441" "50" "1031" "0" "1031" "0" "c.1031C>G" "r.(?)" "p.(Thr344Ser)" "" "" "" "" "" "" "" "" "0000893555" "00020441" "30" "944" "0" "944" "0" "c.944A>C" "r.(?)" "p.(Glu315Ala)" "" "" "" "" "" "" "" "" "0000893556" "00020441" "50" "739" "0" "739" "0" "c.739A>G" "r.(?)" "p.(Ile247Val)" "" "" "" "" "" "" "" "" "0000893557" "00020441" "30" "715" "0" "715" "0" "c.715C>G" "r.(?)" "p.(Leu239Val)" "" "" "" "" "" "" "" "" "0000893558" "00020441" "30" "357" "0" "357" "0" "c.357G>C" "r.(?)" "p.(Leu119Phe)" "" "" "" "" "" "" "" "" "0000914808" "00020441" "30" "1666" "0" "1666" "0" "c.1666T>A" "r.(?)" "p.(Ser556Thr)" "" "" "" "" "" "" "" "" "0000914809" "00020441" "30" "1056" "0" "1056" "0" "c.1056G>A" "r.(?)" "p.(Val352=)" "" "" "" "" "" "" "" "" "0000914810" "00020441" "30" "1053" "0" "1053" "0" "c.1053T>C" "r.(?)" "p.(Thr351=)" "" "" "" "" "" "" "" "" "0000926471" "00020441" "30" "2185" "0" "2185" "0" "c.2185G>T" "r.(?)" "p.(Ala729Ser)" "" "" "" "" "" "" "" "" "0000926472" "00020441" "30" "1335" "0" "1335" "0" "c.1335A>G" "r.(?)" "p.(Glu445=)" "" "" "" "" "" "" "" "" "0000926473" "00020441" "30" "993" "0" "993" "0" "c.993G>A" "r.(?)" "p.(Thr331=)" "" "" "" "" "" "" "" "" "0000930756" "00020441" "50" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775Gln)" "" "" "" "" "" "" "" "" "0000930757" "00020441" "30" "2078" "-18" "2078" "-18" "c.2078-18A>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000930758" "00020441" "30" "1257" "11" "1257" "11" "c.1257+11A>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000950868" "00020441" "30" "833" "15" "833" "15" "c.833+15C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000950869" "00020441" "50" "751" "0" "762" "0" "c.751_762del" "r.(?)" "p.(Glu251_Gln254del)" "" "" "" "" "" "" "" "" "0000950870" "00020441" "30" "550" "8" "550" "8" "c.550+8G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000950871" "00020441" "30" "129" "-8" "129" "-8" "c.129-8dup" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000968872" "00020441" "30" "2166" "0" "2166" "0" "c.2166C>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "0000968873" "00020441" "50" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353His)" "" "" "" "" "" "" "" "" "0000968874" "00020441" "30" "637" "0" "637" "0" "c.637G>T" "r.(?)" "p.(Ala213Ser)" "" "" "" "" "" "" "" "" "0000968875" "00020441" "50" "416" "0" "416" "0" "c.416A>C" "r.(?)" "p.(Gln139Pro)" "" "" "" "" "" "" "" "" "0000982482" "00020441" "30" "2130" "-8" "2130" "-8" "c.2130-8T>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000982483" "00020441" "30" "1755" "0" "1755" "0" "c.1755C>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "0000982484" "00020441" "30" "1551" "0" "1551" "0" "c.1551C>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "0000982485" "00020441" "30" "1380" "17" "1380" "17" "c.1380+17G>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "0000982486" "00020441" "30" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "0001003219" "00020441" "30" "2352" "0" "2352" "0" "c.2352C>T" "r.(?)" "p.(His784=)" "" "" "" "" "" "" "" "" "0001003220" "00020441" "30" "2161" "0" "2161" "0" "c.2161G>A" "r.(?)" "p.(Gly721Ser)" "" "" "" "" "" "" "" "" "0001003221" "00020441" "30" "93" "0" "93" "0" "c.93G>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "0001026887" "00020441" "30" "2334" "0" "2334" "0" "c.2334C>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "0001026888" "00020441" "50" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353Cys)" "" "" "" "" "" "" "" "" "0001026889" "00020441" "30" "942" "0" "942" "0" "c.942C>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "0001026890" "00020441" "50" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107His)" "" "" "" "" "" "" "" "" "0001026891" "00020441" "30" "99" "0" "99" "0" "c.99T>C" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "0001041835" "00020441" "30" "1474" "-4" "1474" "-4" "c.1474-4T>C" "r.spl?" "p.?" "" "" "" "" "" "" "" "" "0001041836" "00020441" "50" "909" "0" "909" "0" "c.909G>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "0001041837" "00020441" "50" "799" "0" "799" "0" "c.799C>A" "r.(?)" "p.(Pro267Thr)" "" "" "" "" "" "" "" "" "0001046624" "00020441" "30" "2157" "0" "2157" "0" "c.2157G>A" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "0001046625" "00020441" "30" "474" "0" "474" "0" "c.474A>G" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "0001046626" "00020441" "30" "429" "0" "429" "0" "c.429G>C" "r.(?)" "p.(Gln143His)" "" "" "" "" "" "" "" "" "0001046627" "00020441" "50" "62" "0" "62" "0" "c.62T>C" "r.(?)" "p.(Leu21Ser)" "" "" "" "" "" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000079827" "0000128610" "0000079828" "0000128611" "0000079829" "0000128612" "0000079830" "0000128763" "0000079831" "0000128614" "0000079832" "0000128615" "0000081932" "0000132635" "0000081933" "0000132636" "0000081934" "0000132637" "0000271015" "0000624853"