### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SBF1) # 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}}" "SBF1" "SET binding factor 1" "22" "q13.33" "unknown" "NG_041810.1" "UD_132464405916" "" "https://www.LOVD.nl/SBF1" "" "1" "10542" "6305" "603560" "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/SBF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-23 13:57:28" "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}}" "00018430" "SBF1" "SET binding factor 1" "001" "NM_002972.2" "" "NP_002963.2" "" "" "" "-195" "7824" "5682" "50913464" "50883429" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03884" "CMT4B3" "Charcot-Marie-Tooth disease, type 4B3 (CMT-4B3)" "AR" "615284" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "06885" "AMD" "dysplasia, acromesomelic" "" "" "" "" "" "00006" "2021-12-16 18:32:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SBF1" "03884" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00050428" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00208793" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00219077" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat87" "00225677" "" "" "" "3" "" "00006" "{PMID:Alazami 2014:24799518}, {PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "24799518-Pat, 25558065-Fam09DG0301" "00225725" "" "" "" "3" "" "00006" "{PMID:Nakhro 2013:23749797}" "3-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "no" "Korea" "" "0" "" "" "" "23749797-FamFC478" "00396709" "" "" "" "1" "" "00006" "{PMID:Díaz-Gonzalez 2021:33106379}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "Pat2" "00446738" "" "" "" "1" "" "01741" "" "" "M" "" "(Neutral Zone (Saudia Arabia/Iraq))" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00050428" "00198" "00219077" "05113" "00225677" "05113" "00225725" "05113" "00396709" "06885" "00446738" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03884, 05113, 06885 ## Count = 7 "{{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}}" "0000037040" "00198" "00050428" "00006" "Isolated (sporadic)" "" "generalized hypotonia, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000157406" "00198" "00208793" "01164" "Unknown" "" "HP:0011805 (Abnormality of muscle morphology); HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000167634" "05113" "00219077" "00006" "Unknown" "" "CMT4B3; no family history" "" "" "" "" "" "" "" "" "CMT-4B3" "Charcot-Marie-Tooth diseae" "" "0000170819" "05113" "00225677" "00006" "Familial, autosomal recessive" "" "see paper; …, Charcot-Marie-Tooth with microcephaly, ophthalmoplegia and syndactyly, severe strabismus" "" "" "" "" "" "" "" "" "CMT-4B3" "Charcot-Marie-Tooth disease" "" "0000170836" "05113" "00225725" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT-4B3" "Charcot-Marie-Tooth disease" "" "0000289870" "06885" "00396709" "00006" "Familial, autosomal recessive" "07y" "see paper; ..., severe short stature; acromesomelia; mild bowed forearm; brachydactyly; hypoplasia hand phalanges; no hyperlordosis; no talipes equinovarus; toes short, broad, sandal gap; no nail aplasia/hypoplasia; triangular face, broad nasal bridge, pointed chin, synophrys, hypertelorism low set ears; hirsutism; radiology normal skull, anterior beaking vertebral bodies of thoracolumbar junction, mild acetabular irregularity, mesomelia, mildly bowed radius and ulna, relatively large epiphyses, metaphyseal irregularity, brachydactyly, advanced bone age, premature fusion epiphyses hands and knees" "" "" "" "" "" "" "" "" "AMD4" "acromesomelic dysplasia" "" "0000335942" "05113" "00446738" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050373" "00050428" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000209842" "00208793" "1" "01164" "01164" "2018-12-17 10:13:33" "" "" "SEQ-NG" "DNA" "" "" "0000220149" "00219077" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000226744" "00225677" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226792" "00225725" "1" "00006" "00006" "2019-02-23 14:05:19" "" "" "SEQ" "DNA" "" "WES" "0000397952" "00396709" "1" "00006" "00006" "2021-12-16 19:13:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448313" "00446738" "1" "01741" "01741" "2024-01-23 09:50:48" "00001" "2024-02-01 19:34:41" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000220149" "SBF1" "0000226744" "SBF1" "0000226792" "SBF1" "0000448313" "AARS" "0000448313" "GARS" "0000448313" "GDAP1" "0000448313" "LMNA" "0000448313" "MFN2" "0000448313" "NEFH" "0000448313" "NEFL" "0000448313" "PMP22" "0000448313" "RAB7A" "0000448313" "SBF1" "0000448313" "TRPV4" ## 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 = 205 "{{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}}" "0000079353" "0" "90" "22" "47182944" "51666786" "del" "0" "00006" "ALG12_000022" "g.47182944_51666786del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.56 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000247707" "0" "10" "22" "50885649" "50885649" "subst" "0.00334014" "02330" "SBF1_000003" "g.50885649A>G" "" "" "" "SBF1(NM_002972.4):c.5604T>C (p.V1868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50447220A>G" "" "benign" "" "0000247708" "0" "10" "22" "50885775" "50885775" "subst" "0.519774" "02330" "SBF1_000007" "g.50885775A>G" "" "" "" "SBF1(NM_002972.4):c.5559T>C (p.T1853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50447346A>G" "" "benign" "" "0000247712" "0" "30" "22" "50901320" "50901320" "subst" "0.00404785" "02330" "SBF1_000038" "g.50901320A>T" "" "" "" "SBF1(NM_002972.4):c.1947T>A (p.P649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50462891A>T" "" "likely benign" "" "0000295258" "0" "10" "22" "50885565" "50885565" "subst" "0" "02330" "SBF1_000001" "g.50885565G>A" "" "" "" "SBF1(NM_002972.4):c.*6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50447136G>A" "" "benign" "" "0000295259" "0" "30" "22" "50904225" "50904225" "subst" "0.00156856" "02330" "SBF1_000044" "g.50904225C>T" "" "" "" "SBF1(NM_002972.4):c.1056G>A (p.P352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50465796C>T" "" "likely benign" "" "0000295260" "0" "10" "22" "50904173" "50904173" "subst" "0.000557018" "02330" "SBF1_000043" "g.50904173G>A" "" "" "" "SBF1(NM_002972.4):c.1089+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50465744G>A" "" "benign" "" "0000295261" "0" "30" "22" "50903683" "50903683" "subst" "9.60631E-5" "02330" "SBF1_000042" "g.50903683G>A" "" "" "" "SBF1(NM_002972.4):c.1164C>T (p.V388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50465254G>A" "" "likely benign" "" "0000295262" "0" "50" "22" "50903280" "50903280" "subst" "0.000138221" "02330" "SBF1_000041" "g.50903280C>T" "" "" "" "SBF1(NM_002972.4):c.1399G>A (p.V467I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50464851C>T" "" "VUS" "" "0000295263" "0" "50" "22" "50902865" "50902865" "subst" "8.14943E-6" "02330" "SBF1_000040" "g.50902865T>C" "" "" "" "SBF1(NM_002972.4):c.1642A>G (p.I548V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50464436T>C" "" "VUS" "" "0000295264" "0" "10" "22" "50902751" "50902751" "subst" "0.13189" "02330" "SBF1_000039" "g.50902751C>T" "" "" "" "SBF1(NM_002972.4):c.1749+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50464322C>T" "" "benign" "" "0000295265" "0" "10" "22" "50901009" "50901009" "subst" "0.122744" "02330" "SBF1_000036" "g.50901009C>T" "" "" "" "SBF1(NM_002972.4):c.2106G>A (p.T702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50462580C>T" "" "benign" "" "0000295266" "0" "10" "22" "50900855" "50900855" "subst" "0.0077452" "02330" "SBF1_000035" "g.50900855G>A" "" "" "" "SBF1(NM_002972.4):c.2175C>T (p.D725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50462426G>A" "" "benign" "" "0000295267" "0" "10" "22" "50900372" "50900372" "subst" "0.000999245" "02330" "SBF1_000033" "g.50900372G>A" "" "" "" "SBF1(NM_002972.4):c.2569+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50461943G>A" "" "benign" "" "0000295268" "0" "30" "22" "50900007" "50900007" "subst" "0.000795648" "02330" "SBF1_000031" "g.50900007G>A" "" "" "" "SBF1(NM_002972.4):c.2784C>T (p.A928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50461578G>A" "" "likely benign" "" "0000295269" "0" "10" "22" "50906108" "50906108" "subst" "0.0184373" "02330" "SBF1_000047" "g.50906108G>A" "" "" "" "SBF1(NM_002972.4):c.291C>T (p.R97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50467679G>A" "" "benign" "" "0000295270" "0" "50" "22" "50898734" "50898734" "subst" "0.000204814" "02330" "SBF1_000029" "g.50898734G>T" "" "" "" "SBF1(NM_002972.3):c.3250C>A (p.P1084T), SBF1(NM_002972.4):c.3250C>A (p.P1084T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50460305G>T" "" "VUS" "" "0000295271" "0" "10" "22" "50898533" "50898533" "subst" "0.00547625" "02330" "SBF1_000028" "g.50898533G>A" "" "" "" "SBF1(NM_002972.4):c.3339C>T (p.S1113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50460104G>A" "" "benign" "" "0000295272" "0" "10" "22" "50898026" "50898026" "subst" "0.146769" "02330" "SBF1_000027" "g.50898026G>A" "" "" "" "SBF1(NM_002972.4):c.3561C>T (p.Y1187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50459597G>A" "" "benign" "" "0000295273" "0" "30" "22" "50897911" "50897911" "subst" "8.34077E-5" "02330" "SBF1_000026" "g.50897911C>T" "" "" "" "SBF1(NM_002972.4):c.3676G>A (p.A1226T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50459482C>T" "" "likely benign" "" "0000295274" "0" "10" "22" "50897745" "50897745" "subst" "0.00139986" "02330" "SBF1_000025" "g.50897745G>A" "" "" "" "SBF1(NM_002972.4):c.3765C>T (p.Y1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50459316G>A" "" "benign" "" "0000295275" "0" "10" "22" "50895458" "50895458" "subst" "0.00221543" "02330" "SBF1_000024" "g.50895458G>C" "" "" "" "SBF1(NM_002972.4):c.3904+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50457029G>C" "" "benign" "" "0000295276" "0" "30" "22" "50895111" "50895111" "subst" "0.000820852" "02330" "SBF1_000023" "g.50895111G>A" "" "" "" "SBF1(NM_002972.4):c.3905-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50456682G>A" "" "likely benign" "" "0000295277" "0" "10" "22" "50895020" "50895020" "subst" "0.284195" "02330" "SBF1_000022" "g.50895020C>T" "" "" "" "SBF1(NM_002972.4):c.3987G>A (p.A1329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50456591C>T" "" "benign" "" "0000295278" "0" "10" "22" "50894987" "50894987" "subst" "0.0490363" "02330" "SBF1_000021" "g.50894987G>A" "" "" "" "SBF1(NM_002972.4):c.4020C>T (p.P1340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50456558G>A" "" "benign" "" "0000295279" "0" "10" "22" "50894629" "50894629" "subst" "0.000108101" "02330" "SBF1_000020" "g.50894629G>A" "" "" "" "SBF1(NM_002972.4):c.4266+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50456200G>A" "" "benign" "" "0000295280" "0" "10" "22" "50894026" "50894026" "subst" "0.00143234" "02330" "SBF1_000019" "g.50894026G>A" "" "" "" "SBF1(NM_002972.4):c.4267-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50455597G>A" "" "benign" "" "0000295281" "0" "10" "22" "50893849" "50893849" "subst" "0.000298622" "02330" "SBF1_000018" "g.50893849C>G" "" "" "" "SBF1(NM_002972.4):c.4369-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50455420C>G" "" "benign" "" "0000295282" "0" "30" "22" "50893668" "50893668" "subst" "0.000213129" "02330" "SBF1_000017" "g.50893668C>G" "" "" "" "SBF1(NM_002972.4):c.4539G>C (p.L1513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50455239C>G" "" "likely benign" "" "0000295283" "0" "10" "22" "50893189" "50893189" "subst" "0.0038397" "02330" "SBF1_000016" "g.50893189G>A" "" "" "" "SBF1(NM_002972.4):c.4813-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50454760G>A" "" "benign" "" "0000295284" "0" "30" "22" "50893057" "50893057" "subst" "0.00201999" "02330" "SBF1_000015" "g.50893057G>T" "" "" "" "SBF1(NM_002972.4):c.4927C>A (p.P1643T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50454628G>T" "" "likely benign" "" "0000295285" "0" "30" "22" "50886041" "50886041" "subst" "0" "02330" "SBF1_000013" "g.50886041G>C" "" "" "" "SBF1(NM_002972.4):c.5364-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50447612G>C" "" "likely benign" "" "0000295286" "0" "30" "22" "50885975" "50885975" "subst" "0.000613716" "02330" "SBF1_000011" "g.50885975G>A" "" "" "" "SBF1(NM_002972.4):c.5427C>T (p.F1809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50447546G>A" "" "likely benign" "" "0000295287" "0" "10" "22" "50885896" "50885897" "del" "0" "02330" "SBF1_000010" "g.50885896_50885897del" "" "" "" "SBF1(NM_002972.4):c.5452-13_5452-12delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50447467_50447468del" "" "benign" "" "0000295288" "0" "50" "22" "50885863" "50885863" "subst" "0.000195017" "02330" "SBF1_000008" "g.50885863C>T" "" "" "" "SBF1(NM_002972.4):c.5471G>A (p.R1824H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50447434C>T" "" "VUS" "" "0000295289" "0" "10" "22" "50913208" "50913208" "subst" "0.0176136" "02330" "SBF1_000050" "g.50913208C>T" "" "" "" "SBF1(NM_002972.4):c.55+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50474779C>T" "" "benign" "" "0000295290" "0" "10" "22" "50913206" "50913206" "subst" "0.0139366" "02330" "SBF1_000049" "g.50913206G>A" "" "" "" "SBF1(NM_002972.4):c.55+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50474777G>A" "" "benign" "" "0000295292" "0" "10" "22" "50885628" "50885628" "subst" "0.00253402" "02330" "SBF1_000002" "g.50885628G>A" "" "" "" "SBF1(NM_002972.4):c.5625C>T (p.D1875=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50447199G>A" "" "benign" "" "0000295293" "0" "30" "22" "50904521" "50904521" "subst" "0.0022979" "02330" "SBF1_000046" "g.50904521C>T" "" "" "" "SBF1(NM_002972.4):c.898-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50466092C>T" "" "likely benign" "" "0000295294" "0" "50" "22" "50904445" "50904445" "subst" "8.94549E-5" "02330" "SBF1_000045" "g.50904445T>C" "" "" "" "SBF1(NM_002972.4):c.956A>G (p.H319R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50466016T>C" "" "VUS" "" "0000307720" "0" "30" "22" "50901081" "50901081" "subst" "0.000622172" "01943" "SBF1_000037" "g.50901081C>T" "" "" "" "SBF1(NM_002972.3):c.2034G>A (p.T678=), SBF1(NM_002972.4):c.2034G>A (p.T678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50462652C>T" "" "likely benign" "" "0000307721" "0" "30" "22" "50900054" "50900054" "subst" "0.000181949" "01943" "SBF1_000032" "g.50900054C>T" "" "" "" "SBF1(NM_002972.3):c.2737G>A (p.A913T), SBF1(NM_002972.4):c.2737G>A (p.A913T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50461625C>T" "" "likely benign" "" "0000307722" "0" "30" "22" "50886032" "50886032" "subst" "0.000222431" "01943" "SBF1_000012" "g.50886032G>A" "" "" "" "SBF1(NM_002972.3):c.5370C>T (p.Y1790=), SBF1(NM_002972.4):c.5370C>T (p.Y1790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50447603G>A" "" "likely benign" "" "0000307723" "0" "30" "22" "50885871" "50885871" "subst" "0.00185751" "01943" "SBF1_000009" "g.50885871G>A" "" "" "" "SBF1(NM_002972.3):c.5463C>T (p.Y1821=), SBF1(NM_002972.4):c.5463C>T (p.Y1821=, p.(Tyr1821=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50447442G>A" "" "likely benign" "" "0000329113" "0" "50" "22" "50885758" "50885758" "subst" "4.06544E-6" "01804" "SBF1_000005" "g.50885758A>G" "" "" "" "SBF1(NM_002972.2):c.5576T>C (p.(Phe1859Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50447329A>G" "" "VUS" "" "0000329114" "0" "50" "22" "50885759" "50885759" "subst" "4.06554E-6" "01804" "SBF1_000006" "g.50885759A>C" "" "" "" "SBF1(NM_002972.2):c.5575T>G (p.(Phe1859Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50447330A>C" "" "VUS" "" "0000329116" "0" "50" "22" "50898793" "50898793" "subst" "0.00013433" "01804" "SBF1_000030" "g.50898793C>T" "" "" "" "SBF1(NM_002972.2):c.3191G>A (p.(Gly1064Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50460364C>T" "" "VUS" "" "0000329117" "0" "50" "22" "50900382" "50900382" "subst" "0" "01804" "SBF1_000034" "g.50900382C>A" "" "" "" "SBF1(NM_002972.2):c.2563G>T (p.(Val855Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50461953C>A" "" "VUS" "" "0000351270" "0" "50" "22" "50900299" "50900299" "subst" "0" "02327" "SBF1_000051" "g.50900299C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50461870C>A" "" "VUS" "" "0000440066" "0" "50" "22" "50905131" "50905131" "subst" "7.09159E-6" "01164" "SBF1_000052" "g.50905131G>C" "" "" "" "" "co-occurrence with SBF1 c.549G>C (no phase information, other exon)" "Germline" "" "" "0" "" "" "g.50466702G>C" "" "VUS" "ACMG" "0000440067" "0" "50" "22" "50905767" "50905767" "subst" "0" "01164" "SBF1_000053" "g.50905767C>G" "" "" "" "" "co-occurrence with SBF1 c.558C>G (no phase information, other exon)" "Germline" "" "" "0" "" "" "g.50467338C>G" "" "VUS" "ACMG" "0000455059" "1" "90" "22" "50897683" "50897683" "subst" "0" "00006" "SBF1_000054" "g.50897683C>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pvs1, pm2" "Germline" "" "" "0" "" "" "g.50459254C>T" "" "likely pathogenic" "ACMG" "0000455060" "2" "90" "22" "50905987" "50905987" "subst" "4.06517E-6" "00006" "SBF1_000055" "g.50905987G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pvs1, pm2" "Germline" "" "" "0" "" "" "g.50467558G>A" "" "likely pathogenic" "ACMG" "0000459795" "3" "90" "22" "50903435" "50903435" "subst" "0" "00006" "SBF1_000056" "g.50903435C>T" "" "{PMID:Alazami 2014:24799518}, {PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50465006C>T" "" "pathogenic (recessive)" "" "0000459822" "21" "90" "22" "50903513" "50903513" "subst" "7.31838E-5" "00006" "SBF1_000057" "g.50903513T>C" "" "{PMID:Nakhro 2013:23749797}" "" "A1249G" "" "Germline" "yes" "" "0" "" "" "g.50465084T>C" "" "pathogenic (recessive)" "" "0000459823" "11" "90" "22" "50893287" "50893287" "subst" "0.000333295" "00006" "SBF1_000058" "g.50893287T>C" "" "{PMID:Nakhro 2013:23749797}" "" "A4768G" "" "Germline" "yes" "" "0" "" "" "g.50454858T>C" "" "pathogenic (recessive)" "" "0000572349" "0" "30" "22" "50876662" "50876662" "subst" "0.0281221" "01804" "PPP6R2_000002" "g.50876662T>G" "" "" "" "PPP6R2(NM_001242898.1):c.1899T>G (p.(Asp633Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50438233T>G" "" "likely benign" "" "0000572351" "0" "10" "22" "50885739" "50885739" "dup" "0" "02330" "PPP6R2_000006" "g.50885739dup" "" "" "" "SBF1(NM_002972.4):c.5583+13dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50447310dup" "" "benign" "" "0000572352" "0" "30" "22" "50885769" "50885769" "subst" "4.06415E-5" "02330" "PPP6R2_000007" "g.50885769G>A" "" "" "" "SBF1(NM_002972.4):c.5565C>T (p.D1855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50447340G>A" "" "likely benign" "" "0000572353" "0" "30" "22" "50886032" "50886032" "subst" "0.000222431" "02330" "SBF1_000012" "g.50886032G>A" "" "" "" "SBF1(NM_002972.3):c.5370C>T (p.Y1790=), SBF1(NM_002972.4):c.5370C>T (p.Y1790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50447603G>A" "" "likely benign" "" "0000572354" "0" "50" "22" "50886717" "50886717" "subst" "5.3082E-5" "02330" "PPP6R2_000008" "g.50886717G>A" "" "" "" "SBF1(NM_002972.4):c.5308C>T (p.R1770C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50448288G>A" "" "VUS" "" "0000572355" "0" "30" "22" "50886736" "50886736" "subst" "0.000264761" "02330" "PPP6R2_000009" "g.50886736G>A" "" "" "" "SBF1(NM_002972.4):c.5289C>T (p.S1763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50448307G>A" "" "likely benign" "" "0000572356" "0" "30" "22" "50887014" "50887014" "subst" "0.00031569" "02330" "PPP6R2_000010" "g.50887014C>T" "" "" "" "SBF1(NM_002972.4):c.5109G>A (p.R1703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50448585C>T" "" "likely benign" "" "0000572357" "0" "50" "22" "50893019" "50893019" "subst" "0.00081759" "02330" "PPP6R2_000011" "g.50893019C>G" "" "" "" "SBF1(NM_002972.4):c.4965G>C (p.Q1655H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50454590C>G" "" "VUS" "" "0000572358" "0" "50" "22" "50893107" "50893107" "subst" "4.69867E-6" "02330" "PPP6R2_000012" "g.50893107A>G" "" "" "" "SBF1(NM_002972.4):c.4877T>C (p.L1626P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50454678A>G" "" "VUS" "" "0000572359" "0" "50" "22" "50893331" "50893331" "subst" "0.000113801" "02330" "PPP6R2_000013" "g.50893331G>A" "" "" "" "SBF1(NM_002972.4):c.4724C>T (p.P1575L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50454902G>A" "" "VUS" "" "0000572360" "0" "10" "22" "50893431" "50893431" "subst" "0.00124909" "02330" "PPP6R2_000014" "g.50893431G>A" "" "" "" "SBF1(NM_002972.4):c.4681+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50455002G>A" "" "benign" "" "0000572361" "0" "50" "22" "50893514" "50893514" "subst" "0.000174834" "02330" "PPP6R2_000015" "g.50893514C>T" "" "" "" "SBF1(NM_002972.4):c.4612G>A (p.G1538S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50455085C>T" "" "VUS" "" "0000572362" "0" "30" "22" "50893746" "50893746" "subst" "1.62878E-5" "01943" "PPP6R2_000016" "g.50893746G>A" "" "" "" "SBF1(NM_002972.3):c.4461C>T (p.G1487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50455317G>A" "" "likely benign" "" "0000572363" "0" "30" "22" "50893900" "50893900" "subst" "2.08665E-5" "02330" "PPP6R2_000017" "g.50893900C>T" "" "" "" "SBF1(NM_002972.4):c.4368+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50455471C>T" "" "likely benign" "" "0000572364" "0" "30" "22" "50895511" "50895511" "subst" "0.00252898" "02330" "PPP6R2_000018" "g.50895511G>A" "" "" "" "SBF1(NM_002972.4):c.3856C>T (p.L1286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50457082G>A" "" "likely benign" "" "0000572365" "0" "10" "22" "50895544" "50895544" "subst" "0.00176543" "02330" "PPP6R2_000019" "g.50895544A>G" "" "" "" "SBF1(NM_002972.4):c.3827-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50457115A>G" "" "benign" "" "0000572366" "0" "50" "22" "50897738" "50897738" "subst" "9.82206E-5" "02330" "PPP6R2_000020" "g.50897738C>T" "" "" "" "SBF1(NM_002972.4):c.3772G>A (p.A1258T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50459309C>T" "" "VUS" "" "0000572367" "0" "10" "22" "50897750" "50897750" "subst" "0.00119977" "02330" "PPP6R2_000021" "g.50897750G>A" "" "" "" "SBF1(NM_002972.4):c.3760C>T (p.R1254C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50459321G>A" "" "benign" "" "0000572368" "0" "30" "22" "50898578" "50898578" "subst" "0.000249906" "02330" "PPP6R2_000022" "g.50898578C>T" "" "" "" "SBF1(NM_002972.4):c.3294G>A (p.E1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50460149C>T" "" "likely benign" "" "0000572369" "0" "30" "22" "50898734" "50898734" "subst" "0.000204814" "01943" "SBF1_000029" "g.50898734G>T" "" "" "" "SBF1(NM_002972.3):c.3250C>A (p.P1084T), SBF1(NM_002972.4):c.3250C>A (p.P1084T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50460305G>T" "" "likely benign" "" "0000572370" "0" "50" "22" "50899065" "50899065" "subst" "0.000223403" "01943" "PPP6R2_000023" "g.50899065C>T" "" "" "" "SBF1(NM_002972.3):c.3044G>A (p.R1015Q), SBF1(NM_002972.4):c.3044G>A (p.R1015Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50460636C>T" "" "VUS" "" "0000572371" "0" "30" "22" "50899579" "50899579" "subst" "3.39685E-5" "02330" "PPP6R2_000024" "g.50899579G>T" "" "" "" "SBF1(NM_002972.4):c.2967+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50461150G>T" "" "likely benign" "" "0000572372" "0" "30" "22" "50899600" "50899600" "subst" "2.47178E-5" "02330" "PPP6R2_000025" "g.50899600G>A" "" "" "" "SBF1(NM_002972.4):c.2955C>T (p.S985=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50461171G>A" "" "likely benign" "" "0000572373" "0" "10" "22" "50900079" "50900079" "subst" "0.00155518" "02330" "PPP6R2_000026" "g.50900079C>G" "" "" "" "SBF1(NM_002972.4):c.2712G>C (p.L904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50461650C>G" "" "benign" "" "0000572374" "0" "50" "22" "50900263" "50900263" "subst" "0.000219841" "02330" "PPP6R2_000027" "g.50900263C>T" "" "" "" "SBF1(NM_002972.4):c.2605G>A (p.V869M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50461834C>T" "" "VUS" "" "0000572375" "0" "50" "22" "50900890" "50900890" "subst" "0" "01943" "PPP6R2_000028" "g.50900890C>A" "" "" "" "SBF1(NM_002972.3):c.2140G>T (p.A714S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50462461C>A" "" "VUS" "" "0000572376" "0" "30" "22" "50900994" "50900994" "subst" "0.000259924" "01943" "PPP6R2_000029" "g.50900994G>C" "" "" "" "SBF1(NM_002972.3):c.2121C>G (p.P707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50462565G>C" "" "likely benign" "" "0000572377" "0" "10" "22" "50901036" "50901036" "subst" "0.00178399" "02330" "PPP6R2_000030" "g.50901036G>A" "" "" "" "SBF1(NM_002972.4):c.2079C>T (p.H693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50462607G>A" "" "benign" "" "0000572378" "0" "30" "22" "50901081" "50901081" "subst" "0.000622172" "02330" "SBF1_000037" "g.50901081C>T" "" "" "" "SBF1(NM_002972.3):c.2034G>A (p.T678=), SBF1(NM_002972.4):c.2034G>A (p.T678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50462652C>T" "" "likely benign" "" "0000572379" "0" "10" "22" "50901135" "50901135" "subst" "0.00156249" "02330" "PPP6R2_000031" "g.50901135C>T" "" "" "" "SBF1(NM_002972.4):c.1980G>A (p.P660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50462706C>T" "" "benign" "" "0000572380" "0" "10" "22" "50901284" "50901284" "subst" "0.00204652" "02330" "PPP6R2_000032" "g.50901284C>T" "" "" "" "SBF1(NM_002972.4):c.1968+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50462855C>T" "" "benign" "" "0000572381" "0" "50" "22" "50902775" "50902775" "subst" "4.06431E-6" "02330" "PPP6R2_000033" "g.50902775T>C" "" "" "" "SBF1(NM_002972.4):c.1732A>G (p.M578V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50464346T>C" "" "VUS" "" "0000572382" "0" "10" "22" "50902839" "50902839" "subst" "0.00283625" "02330" "PPP6R2_000034" "g.50902839A>G" "" "" "" "SBF1(NM_002972.4):c.1668T>C (p.H556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50464410A>G" "" "benign" "" "0000572383" "0" "30" "22" "50903029" "50903029" "subst" "0.00189605" "02330" "PPP6R2_000035" "g.50903029T>A" "" "" "" "SBF1(NM_002972.4):c.1570A>T (p.M524L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50464600T>A" "" "likely benign" "" "0000572384" "0" "30" "22" "50903179" "50903179" "subst" "0.000347222" "02330" "PPP6R2_000036" "g.50903179C>T" "" "" "" "SBF1(NM_002972.4):c.1432-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50464750C>T" "" "likely benign" "" "0000572385" "0" "50" "22" "50903253" "50903253" "subst" "0.000552953" "02330" "PPP6R2_000037" "g.50903253T>C" "" "" "" "SBF1(NM_002972.4):c.1426A>G (p.K476E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50464824T>C" "" "VUS" "" "0000572386" "0" "30" "22" "50904507" "50904507" "subst" "0.000696657" "02330" "PPP6R2_000038" "g.50904507C>T" "" "" "" "SBF1(NM_002972.4):c.898-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50466078C>T" "" "likely benign" "" "0000572387" "0" "50" "22" "50904608" "50904608" "subst" "0.00222738" "02330" "PPP6R2_000039" "g.50904608C>T" "" "" "" "SBF1(NM_002972.4):c.868G>A (p.A290T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50466179C>T" "" "VUS" "" "0000572388" "0" "30" "22" "50904917" "50904917" "subst" "2.04538E-5" "01804" "PPP6R2_000040" "g.50904917G>A" "" "" "" "SBF1(NM_002972.2):c.656-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50466488G>A" "" "likely benign" "" "0000572389" "0" "30" "22" "50905086" "50905086" "subst" "0.00285622" "02330" "PPP6R2_000041" "g.50905086G>A" "" "" "" "SBF1(NM_002972.4):c.603C>T (p.A201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50466657G>A" "" "likely benign" "" "0000572390" "0" "30" "22" "50906795" "50906797" "del" "0" "02330" "PPP6R2_000042" "g.50906795_50906797del" "" "" "" "SBF1(NM_002972.4):c.141+10_141+12delGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50468366_50468368del" "" "likely benign" "" "0000572391" "0" "30" "22" "50906909" "50906909" "subst" "0.00022125" "02330" "PPP6R2_000043" "g.50906909G>A" "" "" "" "SBF1(NM_002972.4):c.56-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50468480G>A" "" "likely benign" "" "0000572392" "0" "50" "22" "50913215" "50913215" "subst" "0.000478517" "02330" "PPP6R2_000044" "g.50913215C>G" "" "" "" "SBF1(NM_002972.4):c.55G>C (p.G19R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50474786C>G" "" "VUS" "" "0000618640" "0" "30" "22" "50892989" "50892989" "subst" "0.000103618" "02330" "PPP6R2_000049" "g.50892989G>A" "" "" "" "SBF1(NM_002972.4):c.4995C>T (p.Y1665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50454560G>A" "" "likely benign" "" "0000618641" "0" "30" "22" "50893514" "50893514" "subst" "0.000174834" "02327" "PPP6R2_000015" "g.50893514C>T" "" "" "" "SBF1(NM_002972.4):c.4612G>A (p.G1538S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50455085C>T" "" "likely benign" "" "0000618642" "0" "30" "22" "50895458" "50895458" "subst" "0.00221543" "02325" "SBF1_000024" "g.50895458G>C" "" "" "" "SBF1(NM_002972.4):c.3904+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50457029G>C" "" "likely benign" "" "0000618643" "0" "50" "22" "50897935" "50897935" "subst" "2.08611E-5" "02330" "PPP6R2_000051" "g.50897935C>T" "" "" "" "SBF1(NM_002972.4):c.3652G>A (p.V1218I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50459506C>T" "" "VUS" "" "0000618644" "0" "50" "22" "50898532" "50898532" "subst" "1.22122E-5" "02330" "PPP6R2_000053" "g.50898532C>T" "" "" "" "SBF1(NM_002972.4):c.3340G>A (p.D1114N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50460103C>T" "" "VUS" "" "0000624324" "0" "10" "22" "50885649" "50885649" "subst" "0.00334014" "02326" "SBF1_000003" "g.50885649A>G" "" "" "" "SBF1(NM_002972.4):c.5604T>C (p.V1868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50447220A>G" "" "benign" "" "0000624325" "0" "30" "22" "50885738" "50885738" "subst" "0" "02330" "PPP6R2_000045" "g.50885738G>C" "" "" "" "SBF1(NM_002972.4):c.5583+13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50447309G>C" "" "likely benign" "" "0000624326" "0" "30" "22" "50885788" "50885788" "subst" "0" "02330" "PPP6R2_000046" "g.50885788C>A" "" "" "" "SBF1(NM_002972.4):c.5546G>T (p.G1849V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50447359C>A" "" "likely benign" "" "0000624327" "0" "50" "22" "50886703" "50886703" "subst" "0" "02330" "PPP6R2_000047" "g.50886703G>T" "" "" "" "SBF1(NM_002972.4):c.5322C>A (p.S1774R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50448274G>T" "" "VUS" "" "0000624328" "0" "50" "22" "50886974" "50886974" "subst" "5.75038E-5" "02330" "PPP6R2_000048" "g.50886974G>A" "" "" "" "SBF1(NM_002972.4):c.5149C>T (p.R1717C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50448545G>A" "" "VUS" "" "0000624329" "0" "30" "22" "50897921" "50897921" "subst" "0.00204173" "02330" "PPP6R2_000050" "g.50897921C>T" "" "" "" "SBF1(NM_002972.4):c.3666G>A (p.K1222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50459492C>T" "" "likely benign" "" "0000624330" "0" "50" "22" "50897995" "50897995" "subst" "5.48514E-5" "02330" "PPP6R2_000052" "g.50897995G>A" "" "" "" "SBF1(NM_002972.4):c.3592C>T (p.R1198C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50459566G>A" "" "VUS" "" "0000624331" "0" "10" "22" "50899103" "50899103" "subst" "0.00445366" "02330" "PPP6R2_000054" "g.50899103G>A" "" "" "" "SBF1(NM_002972.4):c.3006C>T (p.D1002=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50460674G>A" "" "benign" "" "0000624332" "0" "50" "22" "50903091" "50903091" "subst" "5.40765E-5" "02330" "PPP6R2_000055" "g.50903091C>G" "" "" "" "SBF1(NM_002972.4):c.1508G>C (p.R503P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50464662C>G" "" "VUS" "" "0000658981" "0" "50" "22" "50886997" "50886997" "subst" "9.03736E-5" "02330" "PPP6R2_000056" "g.50886997C>T" "" "" "" "SBF1(NM_002972.4):c.5126G>A (p.R1709H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50448568C>T" "" "VUS" "" "0000658982" "0" "30" "22" "50893151" "50893151" "subst" "0.00355698" "02326" "PPP6R2_000057" "g.50893151G>A" "" "" "" "SBF1(NM_002972.4):c.4833C>T (p.N1611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50454722G>A" "" "likely benign" "" "0000681929" "0" "10" "22" "50885871" "50885871" "subst" "0.00185751" "02330" "SBF1_000009" "g.50885871G>A" "" "" "" "SBF1(NM_002972.3):c.5463C>T (p.Y1821=), SBF1(NM_002972.4):c.5463C>T (p.Y1821=, p.(Tyr1821=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681930" "0" "30" "22" "50897745" "50897745" "subst" "0.00139986" "02326" "SBF1_000025" "g.50897745G>A" "" "" "" "SBF1(NM_002972.4):c.3765C>T (p.Y1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681931" "0" "50" "22" "50901031" "50901031" "subst" "4.14666E-5" "02330" "PPP6R2_000058" "g.50901031C>T" "" "" "" "SBF1(NM_002972.4):c.2084G>A (p.R695Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681932" "0" "30" "22" "50902791" "50902791" "subst" "1.62488E-5" "01943" "PPP6R2_000059" "g.50902791G>A" "" "" "" "SBF1(NM_002972.3):c.1716C>T (p.Y572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681933" "0" "50" "22" "50903122" "50903122" "subst" "0.000112428" "02330" "PPP6R2_000060" "g.50903122C>T" "" "" "" "SBF1(NM_002972.4):c.1477G>A (p.G493S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681934" "0" "10" "22" "50906103" "50906103" "subst" "0.00121567" "02330" "PPP6R2_000061" "g.50906103T>G" "" "" "" "SBF1(NM_002972.4):c.296A>C (p.E99A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000693214" "0" "30" "22" "50886032" "50886032" "subst" "0.000222431" "02326" "SBF1_000012" "g.50886032G>A" "" "" "" "SBF1(NM_002972.3):c.5370C>T (p.Y1790=), SBF1(NM_002972.4):c.5370C>T (p.Y1790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693215" "0" "30" "22" "50898008" "50898008" "subst" "0.000214571" "02330" "PPP6R2_000062" "g.50898008G>A" "" "" "" "SBF1(NM_002972.4):c.3579C>T (p.P1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693216" "0" "50" "22" "50898384" "50898384" "subst" "1.62979E-5" "02330" "PPP6R2_000063" "g.50898384C>T" "" "" "" "SBF1(NM_002972.4):c.3488G>A (p.R1163H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693217" "0" "30" "22" "50898578" "50898578" "subst" "0.000249906" "02326" "PPP6R2_000022" "g.50898578C>T" "" "" "" "SBF1(NM_002972.4):c.3294G>A (p.E1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693218" "0" "50" "22" "50899065" "50899065" "subst" "0.000223403" "02330" "PPP6R2_000023" "g.50899065C>T" "" "" "" "SBF1(NM_002972.3):c.3044G>A (p.R1015Q), SBF1(NM_002972.4):c.3044G>A (p.R1015Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693219" "0" "10" "22" "50900919" "50900919" "subst" "0.00105546" "02330" "PPP6R2_000064" "g.50900919C>T" "" "" "" "SBF1(NM_002972.4):c.2128-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000693220" "0" "30" "22" "50903229" "50903229" "subst" "2.44485E-5" "02330" "PPP6R2_000065" "g.50903229C>T" "" "" "" "SBF1(NM_002972.4):c.1431+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693221" "0" "50" "22" "50903559" "50903559" "subst" "0" "01943" "PPP6R2_000066" "g.50903559C>T" "" "" "" "SBF1(NM_002972.3):c.1204-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693222" "0" "30" "22" "50904521" "50904521" "subst" "0.0022979" "02326" "SBF1_000046" "g.50904521C>T" "" "" "" "SBF1(NM_002972.4):c.898-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728219" "0" "30" "22" "50885628" "50885628" "subst" "0.00253402" "02326" "SBF1_000002" "g.50885628G>A" "" "" "" "SBF1(NM_002972.4):c.5625C>T (p.D1875=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728220" "0" "30" "22" "50893641" "50893641" "subst" "7.40125E-5" "02330" "PPP6R2_000067" "g.50893641C>T" "" "" "" "SBF1(NM_002972.4):c.4554+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728221" "0" "50" "22" "50897737" "50897737" "subst" "1.63708E-5" "02330" "PPP6R2_000068" "g.50897737G>A" "" "" "" "SBF1(NM_002972.4):c.3773C>T (p.A1258V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728222" "0" "50" "22" "50898564" "50898564" "subst" "1.63503E-5" "02330" "PPP6R2_000069" "g.50898564G>A" "" "" "" "SBF1(NM_002972.4):c.3308C>T (p.T1103M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728223" "0" "30" "22" "50900482" "50900482" "subst" "2.03074E-5" "02330" "PPP6R2_000070" "g.50900482G>A" "" "" "" "SBF1(NM_002972.4):c.2463C>T (p.D821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728224" "0" "30" "22" "50901036" "50901036" "subst" "0.00178399" "02326" "PPP6R2_000030" "g.50901036G>A" "" "" "" "SBF1(NM_002972.4):c.2079C>T (p.H693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728225" "0" "30" "22" "50901745" "50901745" "subst" "2.04207E-5" "02330" "PPP6R2_000071" "g.50901745G>A" "" "" "" "SBF1(NM_002972.4):c.1866C>T (p.D622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809674" "0" "30" "22" "50861996" "50861996" "subst" "0" "01943" "PPP6R2_000072" "g.50861996A>G" "" "" "" "PPP6R2(NM_001242898.2):c.1078A>G (p.S360G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809675" "0" "30" "22" "50879364" "50879364" "subst" "3.25232E-5" "01943" "PPP6R2_000073" "g.50879364G>A" "" "" "" "PPP6R2(NM_001242898.2):c.2488G>A (p.A830T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809676" "0" "30" "22" "50886853" "50886853" "subst" "0.000334667" "02326" "PPP6R2_000074" "g.50886853A>C" "" "" "" "SBF1(NM_002972.4):c.5172T>G (p.L1724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809677" "0" "50" "22" "50893714" "50893714" "subst" "2.44622E-5" "02330" "PPP6R2_000075" "g.50893714A>G" "" "" "" "SBF1(NM_002972.4):c.4493T>C (p.L1498P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809678" "0" "30" "22" "50900103" "50900103" "subst" "0" "02330" "PPP6R2_000076" "g.50900103C>T" "" "" "" "SBF1(NM_002972.4):c.2688G>A (p.V896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809679" "0" "30" "22" "50901696" "50901696" "subst" "0" "02330" "PPP6R2_000077" "g.50901696G>A" "" "" "" "SBF1(NM_002972.4):c.1899+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809680" "0" "30" "22" "50905757" "50905757" "subst" "0.000589131" "02330" "PPP6R2_000078" "g.50905757C>T" "" "" "" "SBF1(NM_002972.4):c.549+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809681" "0" "30" "22" "50905818" "50905818" "subst" "0.000146606" "02330" "PPP6R2_000079" "g.50905818G>A" "" "" "" "SBF1(NM_002972.4):c.498C>T (p.N166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000830193" "3" "50" "22" "50905771" "50905771" "subst" "4.48522E-5" "00006" "SBF1_000059" "g.50905771G>A" "" "{PMID:Díaz-Gonzalez 2021:33106379}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000856201" "0" "50" "22" "50904250" "50904250" "subst" "0.000135989" "02330" "PPP6R2_000084" "g.50904250T>G" "" "" "" "SBF1(NM_002972.4):c.1031A>C (p.E344A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856202" "0" "30" "22" "50904705" "50904705" "subst" "0.000220855" "02326" "PPP6R2_000085" "g.50904705G>A" "" "" "" "SBF1(NM_002972.4):c.789-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866900" "0" "30" "22" "50832355" "50832355" "subst" "4.06131E-6" "01943" "PPP6R2_000080" "g.50832355C>T" "" "" "" "PPP6R2(NM_001351641.1):c.18C>T (p.D6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866901" "0" "10" "22" "50893151" "50893151" "subst" "0.00355698" "02330" "PPP6R2_000057" "g.50893151G>A" "" "" "" "SBF1(NM_002972.4):c.4833C>T (p.N1611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866902" "0" "50" "22" "50895085" "50895085" "subst" "0.000770957" "02330" "PPP6R2_000081" "g.50895085G>A" "" "" "" "SBF1(NM_002972.4):c.3922C>T (p.R1308W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866903" "0" "70" "22" "50898027" "50898027" "subst" "4.20165E-6" "01804" "PPP6R2_000082" "g.50898027T>C" "" "" "" "SBF1(NM_002972.2):c.3560A>G (p.(Tyr1187Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866904" "0" "50" "22" "50903016" "50903016" "subst" "0" "02330" "PPP6R2_000083" "g.50903016G>T" "" "" "" "SBF1(NM_002972.4):c.1583C>A (p.P528H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895800" "0" "50" "22" "50885581" "50885581" "subst" "5.78364E-5" "02330" "PPP6R2_000086" "g.50885581G>A" "" "" "" "SBF1(NM_002972.4):c.5672C>T (p.S1891L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895801" "0" "30" "22" "50885975" "50885975" "subst" "0.000613716" "02326" "SBF1_000011" "g.50885975G>A" "" "" "" "SBF1(NM_002972.4):c.5427C>T (p.F1809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895802" "0" "30" "22" "50893849" "50893849" "subst" "0.000298622" "02326" "SBF1_000018" "g.50893849C>G" "" "" "" "SBF1(NM_002972.4):c.4369-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895803" "0" "50" "22" "50895022" "50895022" "subst" "9.74342E-5" "02330" "PPP6R2_000087" "g.50895022C>T" "" "" "" "SBF1(NM_002972.4):c.3985G>A (p.A1329T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895804" "0" "50" "22" "50895049" "50895049" "subst" "0" "02330" "PPP6R2_000088" "g.50895049C>T" "" "" "" "SBF1(NM_002972.4):c.3958G>A (p.V1320M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895805" "0" "30" "22" "50895121" "50895121" "subst" "0" "02330" "PPP6R2_000089" "g.50895121G>A" "" "" "" "SBF1(NM_002972.4):c.3905-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895806" "0" "30" "22" "50895457" "50895457" "subst" "0" "02325" "PPP6R2_000090" "g.50895457C>T" "" "" "" "SBF1(NM_002972.4):c.3904+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895807" "0" "30" "22" "50895511" "50895511" "subst" "0.00252898" "02326" "PPP6R2_000018" "g.50895511G>A" "" "" "" "SBF1(NM_002972.4):c.3856C>T (p.L1286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895808" "0" "10" "22" "50897692" "50897692" "subst" "0.00237717" "02330" "PPP6R2_000091" "g.50897692C>T" "" "" "" "SBF1(NM_002972.4):c.3818G>A (p.G1273D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895809" "0" "50" "22" "50898034" "50898034" "subst" "0" "02330" "PPP6R2_000092" "g.50898034G>A" "" "" "" "SBF1(NM_002972.4):c.3553C>T (p.R1185C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895810" "0" "50" "22" "50898763" "50898763" "subst" "0" "02330" "PPP6R2_000093" "g.50898763T>G" "" "" "" "SBF1(NM_002972.4):c.3221A>C (p.N1074T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895811" "0" "50" "22" "50900054" "50900054" "subst" "0.000181949" "02330" "SBF1_000032" "g.50900054C>T" "" "" "" "SBF1(NM_002972.3):c.2737G>A (p.A913T), SBF1(NM_002972.4):c.2737G>A (p.A913T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895812" "0" "30" "22" "50900094" "50900094" "subst" "0.000106277" "02330" "PPP6R2_000094" "g.50900094G>T" "" "" "" "SBF1(NM_002972.4):c.2697C>A (p.G899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895813" "0" "30" "22" "50901284" "50901284" "subst" "0.00204652" "02326" "PPP6R2_000032" "g.50901284C>T" "" "" "" "SBF1(NM_002972.4):c.1968+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895814" "0" "50" "22" "50901301" "50901301" "subst" "1.64047E-5" "02330" "PPP6R2_000095" "g.50901301G>A" "" "" "" "SBF1(NM_002972.4):c.1966C>T (p.R656W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895815" "0" "30" "22" "50903350" "50903350" "dup" "0" "02326" "PPP6R2_000096" "g.50903350dup" "" "" "" "SBF1(NM_002972.4):c.1333-4dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895816" "0" "30" "22" "50904608" "50904608" "subst" "0.00222738" "02326" "PPP6R2_000039" "g.50904608C>T" "" "" "" "SBF1(NM_002972.4):c.868G>A (p.A290T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915563" "0" "30" "22" "50885580" "50885580" "subst" "5.79441E-5" "02326" "PPP6R2_000097" "g.50885580C>T" "" "" "" "SBF1(NM_002972.4):c.5673G>A (p.S1891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915564" "0" "10" "22" "50885795" "50885795" "subst" "0.00269293" "02330" "PPP6R2_000098" "g.50885795T>C" "" "" "" "SBF1(NM_002972.4):c.5539A>G (p.T1847A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915565" "0" "30" "22" "50885795" "50885795" "subst" "0.00269293" "02326" "PPP6R2_000098" "g.50885795T>C" "" "" "" "SBF1(NM_002972.4):c.5539A>G (p.T1847A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915566" "0" "50" "22" "50900017" "50900017" "subst" "0" "02330" "PPP6R2_000099" "g.50900017G>C" "" "" "" "SBF1(NM_002972.4):c.2774C>G (p.A925G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931307" "0" "30" "22" "50885623" "50885623" "subst" "0.000970248" "02330" "PPP6R2_000100" "g.50885623G>A" "" "" "" "SBF1(NM_002972.4):c.5630C>T (p.P1877L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931308" "0" "30" "22" "50885738" "50885738" "subst" "7.64688E-5" "02330" "PPP6R2_000101" "g.50885738G>A" "" "" "" "SBF1(NM_002972.4):c.5583+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931309" "0" "30" "22" "50885871" "50885871" "subst" "0.00185751" "02326" "SBF1_000009" "g.50885871G>A" "" "" "" "SBF1(NM_002972.3):c.5463C>T (p.Y1821=), SBF1(NM_002972.4):c.5463C>T (p.Y1821=, p.(Tyr1821=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931310" "0" "30" "22" "50886736" "50886736" "subst" "0.000264761" "02326" "PPP6R2_000009" "g.50886736G>A" "" "" "" "SBF1(NM_002972.4):c.5289C>T (p.S1763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931311" "0" "30" "22" "50887014" "50887014" "subst" "0.00031569" "02326" "PPP6R2_000010" "g.50887014C>T" "" "" "" "SBF1(NM_002972.4):c.5109G>A (p.R1703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931312" "0" "50" "22" "50893287" "50893287" "subst" "0.000333295" "02330" "SBF1_000058" "g.50893287T>C" "" "" "" "SBF1(NM_002972.2):c.4768A>G (p.(Thr1590Ala)), SBF1(NM_002972.4):c.4768A>G (p.T1590A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931313" "0" "30" "22" "50898845" "50898845" "subst" "0.000340699" "02330" "PPP6R2_000102" "g.50898845C>G" "" "" "" "SBF1(NM_002972.4):c.3147-8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931314" "0" "30" "22" "50900372" "50900372" "subst" "0.000999245" "02326" "SBF1_000033" "g.50900372G>A" "" "" "" "SBF1(NM_002972.4):c.2569+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931315" "0" "30" "22" "50902839" "50902839" "subst" "0.00283625" "02326" "PPP6R2_000034" "g.50902839A>G" "" "" "" "SBF1(NM_002972.4):c.1668T>C (p.H556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931316" "0" "50" "22" "50903022" "50903022" "subst" "0" "02330" "PPP6R2_000103" "g.50903022C>A" "" "" "" "SBF1(NM_002972.4):c.1577G>T (p.G526V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951635" "0" "30" "22" "50886828" "50886828" "subst" "0.000607221" "02330" "PPP6R2_000104" "g.50886828G>A" "" "" "" "SBF1(NM_002972.4):c.5197C>T (p.R1733C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951636" "0" "50" "22" "50893012" "50893012" "subst" "0" "02330" "PPP6R2_000105" "g.50893012G>A" "" "" "" "SBF1(NM_002972.4):c.4972C>T (p.R1658C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951637" "0" "50" "22" "50893257" "50893257" "subst" "2.03346E-5" "02330" "PPP6R2_000106" "g.50893257G>A" "" "" "" "SBF1(NM_002972.4):c.4798C>T (p.P1600S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951638" "0" "30" "22" "50895458" "50895458" "subst" "0.00221543" "02326" "SBF1_000024" "g.50895458G>C" "" "" "" "SBF1(NM_002972.4):c.3904+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000959699" "0" "50" "22" "50899670" "50899670" "subst" "0" "01741" "SBF1_000060" "g.50899670G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50461241G>A" "" "VUS" "ACMG" "0000970537" "0" "50" "22" "50895490" "50895495" "dup" "0" "02330" "PPP6R2_000109" "g.50895490_50895495dup" "" "" "" "SBF1(NM_002972.4):c.3879_3884dupGGCCTC (p.A1294_S1295dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970540" "0" "30" "22" "50901698" "50901698" "subst" "0.000216286" "02330" "PPP6R2_000110" "g.50901698A>G" "" "" "" "SBF1(NM_002972.4):c.1899+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984310" "0" "30" "22" "50885577" "50885577" "subst" "0.00015311" "02326" "PPP6R2_000108" "g.50885577G>A" "" "" "" "SBF1(NM_002972.4):c.5676C>T (p.D1892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984311" "0" "30" "22" "50894993" "50894993" "subst" "0.000849749" "02326" "PPP6R2_000112" "g.50894993G>T" "" "" "" "SBF1(NM_002972.4):c.4014C>A (p.G1338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984312" "0" "30" "22" "50900301" "50900301" "subst" "0.000678575" "02326" "PPP6R2_000113" "g.50900301G>A" "" "" "" "SBF1(NM_002972.4):c.2570-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984313" "0" "30" "22" "50900360" "50900360" "subst" "0.000678536" "02326" "PPP6R2_000114" "g.50900360G>A" "" "" "" "SBF1(NM_002972.4):c.2569+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984314" "0" "30" "22" "50903180" "50903180" "subst" "0.000647834" "02326" "PPP6R2_000115" "g.50903180G>A" "" "" "" "SBF1(NM_002972.4):c.1432-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006248" "0" "50" "22" "50893287" "50893287" "subst" "0.000333295" "01804" "SBF1_000058" "g.50893287T>C" "" "" "" "SBF1(NM_002972.2):c.4768A>G (p.(Thr1590Ala)), SBF1(NM_002972.4):c.4768A>G (p.T1590A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006249" "0" "30" "22" "50899097" "50899097" "subst" "4.87626E-5" "02330" "PPP6R2_000116" "g.50899097G>A" "" "" "" "SBF1(NM_002972.4):c.3012C>T (p.A1004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006250" "0" "30" "22" "50905850" "50905850" "subst" "0.000447799" "02330" "PPP6R2_000117" "g.50905850G>A" "" "" "" "SBF1(NM_002972.4):c.466C>T (p.H156Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043956" "0" "30" "22" "50885871" "50885871" "subst" "0.00185751" "01804" "SBF1_000009" "g.50885871G>A" "" "" "" "SBF1(NM_002972.3):c.5463C>T (p.Y1821=), SBF1(NM_002972.4):c.5463C>T (p.Y1821=, p.(Tyr1821=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043957" "0" "50" "22" "50893110" "50893110" "subst" "7.53203E-5" "01804" "PPP6R2_000118" "g.50893110G>A" "" "" "" "SBF1(NM_002972.4):c.4874C>T (p.(Thr1625Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043958" "0" "30" "22" "50893154" "50893154" "subst" "8.55481E-5" "01804" "PPP6R2_000119" "g.50893154G>A" "" "" "" "SBF1(NM_002972.4):c.4830C>T (p.(Ser1610=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043959" "0" "50" "22" "50894975" "50894975" "subst" "0" "01804" "PPP6R2_000120" "g.50894975G>T" "" "" "" "SBF1(NM_002972.4):c.4032C>A (p.(Phe1344Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043960" "0" "50" "22" "50898570" "50898570" "subst" "0" "01804" "PPP6R2_000121" "g.50898570G>T" "" "" "" "SBF1(NM_002972.4):c.3302C>A (p.(Pro1101His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043961" "0" "50" "22" "50898733" "50898733" "subst" "9.0079E-5" "01804" "PPP6R2_000122" "g.50898733G>A" "" "" "" "SBF1(NM_002972.4):c.3251C>T (p.(Pro1084Leu))" "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 SBF1 ## Count = 205 "{{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}}" "0000079353" "00018430" "90" "-753517" "0" "3708309" "0" "c.-753517_*3702627del" "r.0?" "p.0?" "" "0000247707" "00018430" "10" "5604" "0" "5604" "0" "c.5604T>C" "r.(?)" "p.(Val1868=)" "" "0000247708" "00018430" "10" "5559" "0" "5559" "0" "c.5559T>C" "r.(?)" "p.(Thr1853=)" "" "0000247712" "00018430" "30" "1947" "0" "1947" "0" "c.1947T>A" "r.(?)" "p.(Pro649=)" "" "0000295258" "00018430" "10" "5688" "0" "5688" "0" "c.*6C>T" "r.(=)" "p.(=)" "" "0000295259" "00018430" "30" "1056" "0" "1056" "0" "c.1056G>A" "r.(?)" "p.(Pro352=)" "" "0000295260" "00018430" "10" "1089" "19" "1089" "19" "c.1089+19C>T" "r.(=)" "p.(=)" "" "0000295261" "00018430" "30" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(Val388=)" "" "0000295262" "00018430" "50" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Val467Ile)" "" "0000295263" "00018430" "50" "1642" "0" "1642" "0" "c.1642A>G" "r.(?)" "p.(Ile548Val)" "" "0000295264" "00018430" "10" "1749" "7" "1749" "7" "c.1749+7G>A" "r.(=)" "p.(=)" "" "0000295265" "00018430" "10" "2106" "0" "2106" "0" "c.2106G>A" "r.(?)" "p.(Thr702=)" "" "0000295266" "00018430" "10" "2175" "0" "2175" "0" "c.2175C>T" "r.(?)" "p.(Asp725=)" "" "0000295267" "00018430" "10" "2569" "4" "2569" "4" "c.2569+4C>T" "r.spl?" "p.?" "" "0000295268" "00018430" "30" "2784" "0" "2784" "0" "c.2784C>T" "r.(?)" "p.(Ala928=)" "" "0000295269" "00018430" "10" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Arg97=)" "" "0000295270" "00018430" "50" "3250" "0" "3250" "0" "c.3250C>A" "r.(?)" "p.(Pro1084Thr)" "" "0000295271" "00018430" "10" "3339" "0" "3339" "0" "c.3339C>T" "r.(?)" "p.(Ser1113=)" "" "0000295272" "00018430" "10" "3561" "0" "3561" "0" "c.3561C>T" "r.(?)" "p.(Tyr1187=)" "" "0000295273" "00018430" "30" "3676" "0" "3676" "0" "c.3676G>A" "r.(?)" "p.(Ala1226Thr)" "" "0000295274" "00018430" "10" "3765" "0" "3765" "0" "c.3765C>T" "r.(?)" "p.(Tyr1255=)" "" "0000295275" "00018430" "10" "3904" "5" "3904" "5" "c.3904+5C>G" "r.spl?" "p.?" "" "0000295276" "00018430" "30" "3905" "-9" "3905" "-9" "c.3905-9C>T" "r.(=)" "p.(=)" "" "0000295277" "00018430" "10" "3987" "0" "3987" "0" "c.3987G>A" "r.(?)" "p.(Ala1329=)" "" "0000295278" "00018430" "10" "4020" "0" "4020" "0" "c.4020C>T" "r.(?)" "p.(Pro1340=)" "" "0000295279" "00018430" "10" "4266" "16" "4266" "16" "c.4266+16C>T" "r.(=)" "p.(=)" "" "0000295280" "00018430" "10" "4267" "-15" "4267" "-15" "c.4267-15C>T" "r.(=)" "p.(=)" "" "0000295281" "00018430" "10" "4369" "-11" "4369" "-11" "c.4369-11G>C" "r.(=)" "p.(=)" "" "0000295282" "00018430" "30" "4539" "0" "4539" "0" "c.4539G>C" "r.(?)" "p.(Leu1513=)" "" "0000295283" "00018430" "10" "4813" "-18" "4813" "-18" "c.4813-18C>T" "r.(=)" "p.(=)" "" "0000295284" "00018430" "30" "4927" "0" "4927" "0" "c.4927C>A" "r.(?)" "p.(Pro1643Thr)" "" "0000295285" "00018430" "30" "5364" "-3" "5364" "-3" "c.5364-3C>G" "r.spl?" "p.?" "" "0000295286" "00018430" "30" "5427" "0" "5427" "0" "c.5427C>T" "r.(?)" "p.(Phe1809=)" "" "0000295287" "00018430" "10" "5452" "-13" "5452" "-12" "c.5452-13_5452-12del" "r.(=)" "p.(=)" "" "0000295288" "00018430" "50" "5471" "0" "5471" "0" "c.5471G>A" "r.(?)" "p.(Arg1824His)" "" "0000295289" "00018430" "10" "55" "7" "55" "7" "c.55+7G>A" "r.(=)" "p.(=)" "" "0000295290" "00018430" "10" "55" "9" "55" "9" "c.55+9C>T" "r.(=)" "p.(=)" "" "0000295292" "00018430" "10" "5625" "0" "5625" "0" "c.5625C>T" "r.(?)" "p.(Asp1875=)" "" "0000295293" "00018430" "30" "898" "-18" "898" "-18" "c.898-18G>A" "r.(=)" "p.(=)" "" "0000295294" "00018430" "50" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(His319Arg)" "" "0000307720" "00018430" "30" "2034" "0" "2034" "0" "c.2034G>A" "r.(?)" "p.(Thr678=)" "" "0000307721" "00018430" "30" "2737" "0" "2737" "0" "c.2737G>A" "r.(?)" "p.(Ala913Thr)" "" "0000307722" "00018430" "30" "5370" "0" "5370" "0" "c.5370C>T" "r.(?)" "p.(Tyr1790=)" "" "0000307723" "00018430" "30" "5463" "0" "5463" "0" "c.5463C>T" "r.(?)" "p.(Tyr1821=)" "" "0000329113" "00018430" "50" "5576" "0" "5576" "0" "c.5576T>C" "r.(?)" "p.(Phe1859Ser)" "" "0000329114" "00018430" "50" "5575" "0" "5575" "0" "c.5575T>G" "r.(?)" "p.(Phe1859Val)" "" "0000329116" "00018430" "50" "3191" "0" "3191" "0" "c.3191G>A" "r.(?)" "p.(Gly1064Glu)" "" "0000329117" "00018430" "50" "2563" "0" "2563" "0" "c.2563G>T" "r.(?)" "p.(Val855Leu)" "" "0000351270" "00018430" "50" "2570" "-1" "2570" "-1" "c.2570-1G>T" "r.spl?" "p.?" "" "0000440066" "00018430" "50" "558" "0" "558" "0" "c.558C>G" "r.(?)" "p.Ile186Met" "" "0000440067" "00018430" "50" "549" "0" "549" "0" "c.549G>C" "r.(?)" "p.Gln183His" "" "0000455059" "00018430" "90" "3826" "1" "3826" "1" "c.3826+1G>A" "r.spl" "p.?" "" "0000455060" "00018430" "90" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138*)" "" "0000459795" "00018430" "90" "1327" "0" "1327" "0" "c.1327G>A" "r.(?)" "p.(Asp443Asn)" "" "0000459822" "00018430" "90" "1249" "0" "1249" "0" "c.1249A>G" "r.(?)" "p.(Met417Val)" "" "0000459823" "00018430" "90" "4768" "0" "4768" "0" "c.4768A>G" "r.(?)" "p.(Thr1590Ala)" "" "0000572349" "00018430" "30" "14591" "0" "14591" "0" "c.*8909A>C" "r.(=)" "p.(=)" "" "0000572351" "00018430" "10" "5583" "13" "5583" "13" "c.5583+13dup" "r.(=)" "p.(=)" "" "0000572352" "00018430" "30" "5565" "0" "5565" "0" "c.5565C>T" "r.(?)" "p.(Asp1855=)" "" "0000572353" "00018430" "30" "5370" "0" "5370" "0" "c.5370C>T" "r.(?)" "p.(Tyr1790=)" "" "0000572354" "00018430" "50" "5308" "0" "5308" "0" "c.5308C>T" "r.(?)" "p.(Arg1770Cys)" "" "0000572355" "00018430" "30" "5289" "0" "5289" "0" "c.5289C>T" "r.(?)" "p.(Ser1763=)" "" "0000572356" "00018430" "30" "5109" "0" "5109" "0" "c.5109G>A" "r.(?)" "p.(Arg1703=)" "" "0000572357" "00018430" "50" "4965" "0" "4965" "0" "c.4965G>C" "r.(?)" "p.(Gln1655His)" "" "0000572358" "00018430" "50" "4877" "0" "4877" "0" "c.4877T>C" "r.(?)" "p.(Leu1626Pro)" "" "0000572359" "00018430" "50" "4724" "0" "4724" "0" "c.4724C>T" "r.(?)" "p.(Pro1575Leu)" "" "0000572360" "00018430" "10" "4681" "14" "4681" "14" "c.4681+14C>T" "r.(=)" "p.(=)" "" "0000572361" "00018430" "50" "4612" "0" "4612" "0" "c.4612G>A" "r.(?)" "p.(Gly1538Ser)" "" "0000572362" "00018430" "30" "4461" "0" "4461" "0" "c.4461C>T" "r.(?)" "p.(Gly1487=)" "" "0000572363" "00018430" "30" "4368" "10" "4368" "10" "c.4368+10G>A" "r.(=)" "p.(=)" "" "0000572364" "00018430" "30" "3856" "0" "3856" "0" "c.3856C>T" "r.(?)" "p.(Leu1286=)" "" "0000572365" "00018430" "10" "3827" "-4" "3827" "-4" "c.3827-4T>C" "r.spl?" "p.?" "" "0000572366" "00018430" "50" "3772" "0" "3772" "0" "c.3772G>A" "r.(?)" "p.(Ala1258Thr)" "" "0000572367" "00018430" "10" "3760" "0" "3760" "0" "c.3760C>T" "r.(?)" "p.(Arg1254Cys)" "" "0000572368" "00018430" "30" "3294" "0" "3294" "0" "c.3294G>A" "r.(?)" "p.(Glu1098=)" "" "0000572369" "00018430" "30" "3250" "0" "3250" "0" "c.3250C>A" "r.(?)" "p.(Pro1084Thr)" "" "0000572370" "00018430" "50" "3044" "0" "3044" "0" "c.3044G>A" "r.(?)" "p.(Arg1015Gln)" "" "0000572371" "00018430" "30" "2967" "9" "2967" "9" "c.2967+9C>A" "r.(=)" "p.(=)" "" "0000572372" "00018430" "30" "2955" "0" "2955" "0" "c.2955C>T" "r.(?)" "p.(Ser985=)" "" "0000572373" "00018430" "10" "2712" "0" "2712" "0" "c.2712G>C" "r.(?)" "p.(Leu904=)" "" "0000572374" "00018430" "50" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Val869Met)" "" "0000572375" "00018430" "50" "2140" "0" "2140" "0" "c.2140G>T" "r.(?)" "p.(Ala714Ser)" "" "0000572376" "00018430" "30" "2121" "0" "2121" "0" "c.2121C>G" "r.(?)" "p.(Pro707=)" "" "0000572377" "00018430" "10" "2079" "0" "2079" "0" "c.2079C>T" "r.(?)" "p.(His693=)" "" "0000572378" "00018430" "30" "2034" "0" "2034" "0" "c.2034G>A" "r.(?)" "p.(Thr678=)" "" "0000572379" "00018430" "10" "1980" "0" "1980" "0" "c.1980G>A" "r.(?)" "p.(Pro660=)" "" "0000572380" "00018430" "10" "1968" "15" "1968" "15" "c.1968+15G>A" "r.(=)" "p.(=)" "" "0000572381" "00018430" "50" "1732" "0" "1732" "0" "c.1732A>G" "r.(?)" "p.(Met578Val)" "" "0000572382" "00018430" "10" "1668" "0" "1668" "0" "c.1668T>C" "r.(?)" "p.(His556=)" "" "0000572383" "00018430" "30" "1570" "0" "1570" "0" "c.1570A>T" "r.(?)" "p.(Met524Leu)" "" "0000572384" "00018430" "30" "1432" "-12" "1432" "-12" "c.1432-12G>A" "r.(=)" "p.(=)" "" "0000572385" "00018430" "50" "1426" "0" "1426" "0" "c.1426A>G" "r.(?)" "p.(Lys476Glu)" "" "0000572386" "00018430" "30" "898" "-4" "898" "-4" "c.898-4G>A" "r.spl?" "p.?" "" "0000572387" "00018430" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Ala290Thr)" "" "0000572388" "00018430" "30" "656" "-6" "656" "-6" "c.656-6C>T" "r.(=)" "p.(=)" "" "0000572389" "00018430" "30" "603" "0" "603" "0" "c.603C>T" "r.(?)" "p.(Ala201=)" "" "0000572390" "00018430" "30" "141" "10" "141" "12" "c.141+10_141+12del" "r.(=)" "p.(=)" "" "0000572391" "00018430" "30" "56" "-19" "56" "-19" "c.56-19C>T" "r.(=)" "p.(=)" "" "0000572392" "00018430" "50" "55" "0" "55" "0" "c.55G>C" "r.(?)" "p.(Gly19Arg)" "" "0000618640" "00018430" "30" "4995" "0" "4995" "0" "c.4995C>T" "r.(?)" "p.(Tyr1665=)" "" "0000618641" "00018430" "30" "4612" "0" "4612" "0" "c.4612G>A" "r.(?)" "p.(Gly1538Ser)" "" "0000618642" "00018430" "30" "3904" "5" "3904" "5" "c.3904+5C>G" "r.spl?" "p.?" "" "0000618643" "00018430" "50" "3652" "0" "3652" "0" "c.3652G>A" "r.(?)" "p.(Val1218Ile)" "" "0000618644" "00018430" "50" "3340" "0" "3340" "0" "c.3340G>A" "r.(?)" "p.(Asp1114Asn)" "" "0000624324" "00018430" "10" "5604" "0" "5604" "0" "c.5604T>C" "r.(?)" "p.(Val1868=)" "" "0000624325" "00018430" "30" "5583" "13" "5583" "13" "c.5583+13C>G" "r.(=)" "p.(=)" "" "0000624326" "00018430" "30" "5546" "0" "5546" "0" "c.5546G>T" "r.(?)" "p.(Gly1849Val)" "" "0000624327" "00018430" "50" "5322" "0" "5322" "0" "c.5322C>A" "r.(?)" "p.(Ser1774Arg)" "" "0000624328" "00018430" "50" "5149" "0" "5149" "0" "c.5149C>T" "r.(?)" "p.(Arg1717Cys)" "" "0000624329" "00018430" "30" "3666" "0" "3666" "0" "c.3666G>A" "r.(?)" "p.(Lys1222=)" "" "0000624330" "00018430" "50" "3592" "0" "3592" "0" "c.3592C>T" "r.(?)" "p.(Arg1198Cys)" "" "0000624331" "00018430" "10" "3006" "0" "3006" "0" "c.3006C>T" "r.(?)" "p.(Asp1002=)" "" "0000624332" "00018430" "50" "1508" "0" "1508" "0" "c.1508G>C" "r.(?)" "p.(Arg503Pro)" "" "0000658981" "00018430" "50" "5126" "0" "5126" "0" "c.5126G>A" "r.(?)" "p.(Arg1709His)" "" "0000658982" "00018430" "30" "4833" "0" "4833" "0" "c.4833C>T" "r.(?)" "p.(Asn1611=)" "" "0000681929" "00018430" "10" "5463" "0" "5463" "0" "c.5463C>T" "r.(?)" "p.(Tyr1821=)" "" "0000681930" "00018430" "30" "3765" "0" "3765" "0" "c.3765C>T" "r.(?)" "p.(Tyr1255=)" "" "0000681931" "00018430" "50" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Arg695Gln)" "" "0000681932" "00018430" "30" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(Tyr572=)" "" "0000681933" "00018430" "50" "1477" "0" "1477" "0" "c.1477G>A" "r.(?)" "p.(Gly493Ser)" "" "0000681934" "00018430" "10" "296" "0" "296" "0" "c.296A>C" "r.(?)" "p.(Glu99Ala)" "" "0000693214" "00018430" "30" "5370" "0" "5370" "0" "c.5370C>T" "r.(?)" "p.(Tyr1790=)" "" "0000693215" "00018430" "30" "3579" "0" "3579" "0" "c.3579C>T" "r.(?)" "p.(Pro1193=)" "" "0000693216" "00018430" "50" "3488" "0" "3488" "0" "c.3488G>A" "r.(?)" "p.(Arg1163His)" "" "0000693217" "00018430" "30" "3294" "0" "3294" "0" "c.3294G>A" "r.(?)" "p.(Glu1098=)" "" "0000693218" "00018430" "50" "3044" "0" "3044" "0" "c.3044G>A" "r.(?)" "p.(Arg1015Gln)" "" "0000693219" "00018430" "10" "2128" "-17" "2128" "-17" "c.2128-17G>A" "r.(=)" "p.(=)" "" "0000693220" "00018430" "30" "1431" "19" "1431" "19" "c.1431+19G>A" "r.(=)" "p.(=)" "" "0000693221" "00018430" "50" "1204" "-1" "1204" "-1" "c.1204-1G>A" "r.spl?" "p.?" "" "0000693222" "00018430" "30" "898" "-18" "898" "-18" "c.898-18G>A" "r.(=)" "p.(=)" "" "0000728219" "00018430" "30" "5625" "0" "5625" "0" "c.5625C>T" "r.(?)" "p.(Asp1875=)" "" "0000728220" "00018430" "30" "4554" "12" "4554" "12" "c.4554+12G>A" "r.(=)" "p.(=)" "" "0000728221" "00018430" "50" "3773" "0" "3773" "0" "c.3773C>T" "r.(?)" "p.(Ala1258Val)" "" "0000728222" "00018430" "50" "3308" "0" "3308" "0" "c.3308C>T" "r.(?)" "p.(Thr1103Met)" "" "0000728223" "00018430" "30" "2463" "0" "2463" "0" "c.2463C>T" "r.(?)" "p.(Asp821=)" "" "0000728224" "00018430" "30" "2079" "0" "2079" "0" "c.2079C>T" "r.(?)" "p.(His693=)" "" "0000728225" "00018430" "30" "1866" "0" "1866" "0" "c.1866C>T" "r.(?)" "p.(Asp622=)" "" "0000809674" "00018430" "30" "29257" "0" "29257" "0" "c.*23575T>C" "r.(=)" "p.(=)" "" "0000809675" "00018430" "30" "11889" "0" "11889" "0" "c.*6207C>T" "r.(=)" "p.(=)" "" "0000809676" "00018430" "30" "5172" "0" "5172" "0" "c.5172T>G" "r.(?)" "p.(Leu1724=)" "" "0000809677" "00018430" "50" "4493" "0" "4493" "0" "c.4493T>C" "r.(?)" "p.(Leu1498Pro)" "" "0000809678" "00018430" "30" "2688" "0" "2688" "0" "c.2688G>A" "r.(?)" "p.(Val896=)" "" "0000809679" "00018430" "30" "1899" "16" "1899" "16" "c.1899+16C>T" "r.(=)" "p.(=)" "" "0000809680" "00018430" "30" "549" "10" "549" "10" "c.549+10G>A" "r.(=)" "p.(=)" "" "0000809681" "00018430" "30" "498" "0" "498" "0" "c.498C>T" "r.(?)" "p.(Asn166=)" "" "0000830193" "00018430" "90" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Ser182Leu)" "" "0000856201" "00018430" "50" "1031" "0" "1031" "0" "c.1031A>C" "r.(?)" "p.(Glu344Ala)" "" "0000856202" "00018430" "30" "789" "-18" "789" "-18" "c.789-18C>T" "r.(=)" "p.(=)" "" "0000866900" "00018430" "30" "58898" "0" "58898" "0" "c.*53216G>A" "r.(=)" "p.(=)" "" "0000866901" "00018430" "10" "4833" "0" "4833" "0" "c.4833C>T" "r.(?)" "p.(Asn1611=)" "" "0000866902" "00018430" "50" "3922" "0" "3922" "0" "c.3922C>T" "r.(?)" "p.(Arg1308Trp)" "" "0000866903" "00018430" "70" "3560" "0" "3560" "0" "c.3560A>G" "r.(?)" "p.(Tyr1187Cys)" "" "0000866904" "00018430" "50" "1583" "0" "1583" "0" "c.1583C>A" "r.(?)" "p.(Pro528His)" "" "0000895800" "00018430" "50" "5672" "0" "5672" "0" "c.5672C>T" "r.(?)" "p.(Ser1891Leu)" "" "0000895801" "00018430" "30" "5427" "0" "5427" "0" "c.5427C>T" "r.(?)" "p.(Phe1809=)" "" "0000895802" "00018430" "30" "4369" "-11" "4369" "-11" "c.4369-11G>C" "r.(=)" "p.(=)" "" "0000895803" "00018430" "50" "3985" "0" "3985" "0" "c.3985G>A" "r.(?)" "p.(Ala1329Thr)" "" "0000895804" "00018430" "50" "3958" "0" "3958" "0" "c.3958G>A" "r.(?)" "p.(Val1320Met)" "" "0000895805" "00018430" "30" "3905" "-19" "3905" "-19" "c.3905-19C>T" "r.(=)" "p.(=)" "" "0000895806" "00018430" "30" "3904" "6" "3904" "6" "c.3904+6G>A" "r.(=)" "p.(=)" "" "0000895807" "00018430" "30" "3856" "0" "3856" "0" "c.3856C>T" "r.(?)" "p.(Leu1286=)" "" "0000895808" "00018430" "10" "3818" "0" "3818" "0" "c.3818G>A" "r.(?)" "p.(Gly1273Asp)" "" "0000895809" "00018430" "50" "3553" "0" "3553" "0" "c.3553C>T" "r.(?)" "p.(Arg1185Cys)" "" "0000895810" "00018430" "50" "3221" "0" "3221" "0" "c.3221A>C" "r.(?)" "p.(Asn1074Thr)" "" "0000895811" "00018430" "50" "2737" "0" "2737" "0" "c.2737G>A" "r.(?)" "p.(Ala913Thr)" "" "0000895812" "00018430" "30" "2697" "0" "2697" "0" "c.2697C>A" "r.(?)" "p.(Gly899=)" "" "0000895813" "00018430" "30" "1968" "15" "1968" "15" "c.1968+15G>A" "r.(=)" "p.(=)" "" "0000895814" "00018430" "50" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Trp)" "" "0000895815" "00018430" "30" "1333" "-4" "1333" "-4" "c.1333-4dup" "r.spl?" "p.?" "" "0000895816" "00018430" "30" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Ala290Thr)" "" "0000915563" "00018430" "30" "5673" "0" "5673" "0" "c.5673G>A" "r.(?)" "p.(Ser1891=)" "" "0000915564" "00018430" "10" "5539" "0" "5539" "0" "c.5539A>G" "r.(?)" "p.(Thr1847Ala)" "" "0000915565" "00018430" "30" "5539" "0" "5539" "0" "c.5539A>G" "r.(?)" "p.(Thr1847Ala)" "" "0000915566" "00018430" "50" "2774" "0" "2774" "0" "c.2774C>G" "r.(?)" "p.(Ala925Gly)" "" "0000931307" "00018430" "30" "5630" "0" "5630" "0" "c.5630C>T" "r.(?)" "p.(Pro1877Leu)" "" "0000931308" "00018430" "30" "5583" "13" "5583" "13" "c.5583+13C>T" "r.(=)" "p.(=)" "" "0000931309" "00018430" "30" "5463" "0" "5463" "0" "c.5463C>T" "r.(?)" "p.(Tyr1821=)" "" "0000931310" "00018430" "30" "5289" "0" "5289" "0" "c.5289C>T" "r.(?)" "p.(Ser1763=)" "" "0000931311" "00018430" "30" "5109" "0" "5109" "0" "c.5109G>A" "r.(?)" "p.(Arg1703=)" "" "0000931312" "00018430" "50" "4768" "0" "4768" "0" "c.4768A>G" "r.(?)" "p.(Thr1590Ala)" "" "0000931313" "00018430" "30" "3147" "-8" "3147" "-8" "c.3147-8G>C" "r.(=)" "p.(=)" "" "0000931314" "00018430" "30" "2569" "4" "2569" "4" "c.2569+4C>T" "r.spl?" "p.?" "" "0000931315" "00018430" "30" "1668" "0" "1668" "0" "c.1668T>C" "r.(?)" "p.(His556=)" "" "0000931316" "00018430" "50" "1577" "0" "1577" "0" "c.1577G>T" "r.(?)" "p.(Gly526Val)" "" "0000951635" "00018430" "30" "5197" "0" "5197" "0" "c.5197C>T" "r.(?)" "p.(Arg1733Cys)" "" "0000951636" "00018430" "50" "4972" "0" "4972" "0" "c.4972C>T" "r.(?)" "p.(Arg1658Cys)" "" "0000951637" "00018430" "50" "4798" "0" "4798" "0" "c.4798C>T" "r.(?)" "p.(Pro1600Ser)" "" "0000951638" "00018430" "30" "3904" "5" "3904" "5" "c.3904+5C>G" "r.spl?" "p.?" "" "0000959699" "00018430" "50" "2885" "0" "2885" "0" "c.2885C>T" "r.(?)" "p.(Thr962Ile)" "23" "0000970537" "00018430" "50" "3879" "0" "3884" "0" "c.3879_3884dup" "r.(?)" "p.(Ala1294_Ser1295dup)" "" "0000970540" "00018430" "30" "1899" "14" "1899" "14" "c.1899+14T>C" "r.(=)" "p.(=)" "" "0000984310" "00018430" "30" "5676" "0" "5676" "0" "c.5676C>T" "r.(?)" "p.(=)" "" "0000984311" "00018430" "30" "4014" "0" "4014" "0" "c.4014C>A" "r.(?)" "p.(=)" "" "0000984312" "00018430" "30" "2570" "-3" "2570" "-3" "c.2570-3C>T" "r.spl?" "p.?" "" "0000984313" "00018430" "30" "2569" "16" "2569" "16" "c.2569+16C>T" "r.(=)" "p.(=)" "" "0000984314" "00018430" "30" "1432" "-13" "1432" "-13" "c.1432-13C>T" "r.(=)" "p.(=)" "" "0001006248" "00018430" "50" "4768" "0" "4768" "0" "c.4768A>G" "r.(?)" "p.(Thr1590Ala)" "" "0001006249" "00018430" "30" "3012" "0" "3012" "0" "c.3012C>T" "r.(?)" "p.(=)" "" "0001006250" "00018430" "30" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(His156Tyr)" "" "0001043956" "00018430" "30" "5463" "0" "5463" "0" "c.5463C>T" "r.(?)" "p.(Tyr1821=)" "" "0001043957" "00018430" "50" "4874" "0" "4874" "0" "c.4874C>T" "r.(?)" "p.(Thr1625Met)" "" "0001043958" "00018430" "30" "4830" "0" "4830" "0" "c.4830C>T" "r.(?)" "p.(=)" "" "0001043959" "00018430" "50" "4032" "0" "4032" "0" "c.4032C>A" "r.(?)" "p.(Phe1344Leu)" "" "0001043960" "00018430" "50" "3302" "0" "3302" "0" "c.3302C>A" "r.(?)" "p.(Pro1101His)" "" "0001043961" "00018430" "50" "3251" "0" "3251" "0" "c.3251C>T" "r.(?)" "p.(Pro1084Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000050373" "0000079353" "0000209842" "0000440066" "0000209842" "0000440067" "0000220149" "0000455059" "0000220149" "0000455060" "0000226744" "0000459795" "0000226792" "0000459822" "0000226792" "0000459823" "0000397952" "0000830193" "0000448313" "0000959699"