### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPTB) # 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}}" "SPTB" "spectrin, beta, erythrocytic" "14" "q24.1-q24.2" "unknown" "LRG_1130" "UD_132118733265" "" "https://www.LOVD.nl/SPTB" "" "1" "11274" "6710" "182870" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SPTB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-15 10:12:02" "00000" "2025-02-07 18:57:27" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020252" "SPTB" "transcript variant 2" "002" "NM_000347.5" "" "NP_000338.3" "" "" "" "-54" "6672" "6414" "65289866" "65233117" "" "0000-00-00 00:00:00" "" "" "00025546" "SPTB" "transcript variant 1" "003" "NM_001024858.2" "" "NP_001020029.1" "" "" "" "-54" "10010" "6987" "65289866" "65213001" "00006" "2020-08-27 15:20:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00308" "HAG" "anemia, hemolytic, due to G6PD deficiency (HAG, incl favism)" "XLD" "300908" "" "" "X-linked dominant" "00006" "2014-01-24 11:32:05" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05832" "SPH2" "spherocytosis, type 2 (SPH2)" "AD" "616649" "" "" "" "00006" "2020-09-15 10:10:43" "" "" "05833" "SPH" "spherocytosis (SPH)" "" "" "" "" "" "00006" "2020-09-15 10:11:26" "" "" "05834" "EL3" "elliptocytosis, type 3 (EL3, anemia, neonatal hemolytic, fatal or near-fatal)" "" "617948" "" "" "" "00006" "2020-09-15 10:18:09" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SPTB" "05832" "SPTB" "05833" "SPTB" "05834" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00291086" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291087" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291088" "" "" "" "170" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291089" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291090" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291091" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291092" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303369" "" "" "" "1" "" "03694" "" "child of heterozygous mother with a history of neonatal hemolytic anemia" "M" "" "United States" "00y03m" "0" "no" "phototherapy" "Mexico;Ecuador" "" "00304439" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308744" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00310615" "" "" "" "22" "" "03784" "{PMID:Nieminen 2021:33943044}" "5-generation family, 22 affected (8F, 14M)" "F;M" "?" "United States" "" "0" "Yes" "" "" "family" "00386827" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI629_001292" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00291086" "00198" "00291087" "00198" "00291088" "00198" "00291089" "00198" "00291090" "00198" "00291091" "00198" "00291092" "00198" "00303369" "00308" "00304439" "00198" "00308744" "00000" "00310615" "05833" "00386827" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00308, 04214, 05832, 05833, 05834 ## Count = 3 "{{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}}" "0000230445" "00308" "00303369" "03694" "Familial, X-linked recessive" "00y00m03d" "Decreased glucose-6-phosphate dehydrogenase level in red blood cells; Neonatal hemolytic anemia; Hb10.5g/dL; HCT 29.7%; RET 2.54% (89.9x10^3/uL); G6PD activity 2.9U/gHb (ref 9.9-16.6 U/gHb)" "00y00m03d" "00y00m05d" "00y00m01d" "" "" "" "" "" "anemia, hemolytic due to G6PD deficiency" "anemia, hemolytic" "" "0000236329" "05833" "00310615" "03784" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "SPH2" "spherocytosis" "" "0000280627" "04214" "00386827" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292254" "00291086" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292255" "00291087" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292256" "00291088" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292257" "00291089" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292258" "00291090" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292259" "00291091" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292260" "00291092" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304495" "00303369" "1" "03694" "03694" "2020-06-10 20:32:37" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "gene panel (SPTA1, SPTB, ANK1, SLC4A1, EPB41, PIEZO1, CYB5R3, G6PD, GPI, GSR, HK1, NT5C3, PGK1, PKLR, PKM, TPI1, GSS, ADA, AK1, PFKM, PFKL, UGT1A1, UGT1A6, UGT1A7, SLCO1B1, SLCO1B3, GCLC, ALDOA)" "0000305568" "00304439" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309889" "00308744" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000311767" "00310615" "1" "03784" "03784" "2020-09-12 10:35:51" "" "" "arraySNP;PCRq;RT-PCR;RT-PCRq;SEQ-NG" "DNA" "Blood" "" "0000388055" "00386827" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000304495" "G6PD" "0000304495" "PIEZO1" "0000304495" "SPTB" "0000309889" "SPTB" "0000311767" "SPTB" "0000388055" "TRPM1" ## 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 = 192 "{{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}}" "0000251035" "0" "10" "14" "65241228" "65241228" "subst" "0.322249" "02326" "SPTB_000035" "g.65241228A>G" "" "" "" "SPTB(NM_001024858.3):c.4860T>C (p.I1620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64774510A>G" "" "benign" "" "0000251036" "0" "10" "14" "65245962" "65245962" "subst" "0.265754" "02326" "SPTB_000043" "g.65245962A>G" "" "" "" "SPTB(NM_001024858.3):c.4476T>C (p.L1492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64779244A>G" "" "benign" "" "0000251037" "0" "10" "14" "65268100" "65268100" "subst" "0.018397" "02326" "SPTB_000086" "g.65268100A>G" "" "" "" "SPTB(NM_001024858.3):c.666T>C (p.F222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64801382A>G" "" "benign" "" "0000251038" "0" "10" "14" "65270454" "65270454" "subst" "0.00152179" "02326" "SPTB_000100" "g.65270454A>G" "" "" "" "SPTB(NM_001024858.3):c.345T>C (p.N115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64803736A>G" "" "benign" "" "0000251552" "0" "10" "14" "65230322" "65230322" "subst" "0" "02326" "SPTB_000013" "g.65230322A>G" "" "" "" "SPTB(NM_001024858.3):c.6345+3122T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64763604A>G" "" "benign" "" "0000251553" "0" "10" "14" "65230748" "65230748" "subst" "0" "02326" "SPTB_000118" "g.65230748A>G" "" "" "" "SPTB(NM_001024858.3):c.6345+2696T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64764030A>G" "" "benign" "" "0000251554" "0" "10" "14" "65233976" "65233976" "subst" "0.0141949" "02326" "SPTB_000016" "g.65233976A>G" "" "" "" "SPTB(NM_001024858.3):c.6269+45T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64767258A>G" "" "benign" "" "0000251555" "0" "10" "14" "65236278" "65236278" "subst" "0.14837" "02326" "SPTB_000112" "g.65236278A>G" "" "" "" "SPTB(NM_001024858.3):c.5937+30T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64769560A>G" "" "benign" "" "0000251556" "0" "10" "14" "65246011" "65246011" "subst" "0.0620055" "02326" "SPTB_000113" "g.65246011A>G" "" "" "" "SPTB(NM_001024858.3):c.4474-47T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64779293A>G" "" "benign" "" "0000251557" "0" "10" "14" "65246350" "65246350" "subst" "0" "02326" "SPTB_000114" "g.65246350A>G" "" "" "" "SPTB(NM_001024858.3):c.4473+93T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64779632A>G" "" "benign" "" "0000251558" "0" "10" "14" "65248816" "65248816" "subst" "0" "02326" "SPTB_000047" "g.65248816A>G" "" "" "" "SPTB(NM_001024858.3):c.4266+192T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64782098A>G" "" "benign" "" "0000251559" "0" "10" "14" "65249283" "65249283" "subst" "0.0637272" "02326" "SPTB_000115" "g.65249283A>G" "" "" "" "SPTB(NM_001024858.3):c.4003-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64782565A>G" "" "benign" "" "0000251560" "0" "10" "14" "65250939" "65250939" "subst" "0.482655" "02326" "SPTB_000051" "g.65250939A>G" "" "" "" "SPTB(NM_001024858.3):c.4002+26T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64784221A>G" "" "benign" "" "0000251561" "0" "10" "14" "65252081" "65252081" "del" "0" "02326" "SPTB_000053" "g.65252081del" "" "" "" "SPTB(NM_001024858.3):c.3855+185delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64785363del" "" "benign" "" "0000251563" "0" "10" "14" "65254017" "65254017" "del" "0" "02326" "SPTB_000067" "g.65254017del" "" "" "" "SPTB(NM_001024858.3):c.2805-129delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64787299del" "" "benign" "" "0000251564" "0" "10" "14" "65268324" "65268324" "subst" "0" "02326" "SPTB_000089" "g.65268324A>T" "" "" "" "SPTB(NM_001024858.3):c.647+148T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64801606A>T" "" "benign" "" "0000251565" "0" "10" "14" "65268605" "65268605" "subst" "0" "02326" "SPTB_000093" "g.65268605A>G" "" "" "" "SPTB(NM_001024858.3):c.567-53T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64801887A>G" "" "benign" "" "0000251566" "0" "10" "14" "65268718" "65268718" "subst" "0" "02326" "SPTB_000094" "g.65268718A>G" "" "" "" "SPTB(NM_001024858.3):c.567-166T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64802000A>G" "" "benign" "" "0000251567" "0" "10" "14" "65270222" "65270222" "subst" "0" "02326" "SPTB_000097" "g.65270222A>G" "" "" "" "SPTB(NM_001024858.3):c.474+103T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64803504A>G" "" "benign" "" "0000251568" "0" "10" "14" "65270527" "65270527" "subst" "1.04855E-5" "02326" "SPTB_000102" "g.65270527A>G" "" "" "" "SPTB(NM_001024858.3):c.301-29T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64803809A>G" "" "benign" "" "0000251569" "0" "10" "14" "65271480" "65271480" "subst" "0" "02326" "SPTB_000103" "g.65271480A>G" "" "" "" "SPTB(NM_001024858.3):c.300+177T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64804762A>G" "" "benign" "" "0000251570" "0" "10" "14" "65271650" "65271650" "subst" "0.359038" "02326" "SPTB_000107" "g.65271650A>G" "" "" "" "SPTB(NM_001024858.3):c.300+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64804932A>G" "" "benign" "" "0000251571" "0" "10" "14" "65289535" "65289535" "subst" "0" "02326" "SPTB_000110" "g.65289535A>G" "" "" "" "SPTB(NM_001024858.3):c.148+130T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64822817A>G" "" "benign" "" "0000252587" "0" "90" "14" "65268966" "65268966" "subst" "0" "02326" "SPTB_000095" "g.65268966A>C" "" "" "" "SPTB(NM_001024858.3):c.544T>G (p.W182G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64802248A>C" "" "pathogenic" "" "0000311553" "0" "10" "14" "65242125" "65242125" "subst" "0.0598392" "02325" "SPTB_000041" "g.65242125C>T" "" "" "" "SPTB(NM_001024858.3):c.4564-4G>A, SPTB(NM_001024858.4):c.4564-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64775407C>T" "" "benign" "" "0000314024" "0" "10" "14" "65264222" "65264222" "subst" "0" "02326" "SPTB_000082" "g.65264222G>A" "" "" "" "SPTB(NM_001024858.3):c.1182+225C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64797504G>A" "" "benign" "" "0000314026" "0" "10" "14" "65263347" "65263347" "subst" "0.259171" "02326" "SPTB_000080" "g.65263347C>T" "" "" "" "SPTB(NM_001024858.3):c.1269G>A (p.L423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64796629C>T" "" "benign" "" "0000314027" "0" "10" "14" "65263300" "65263300" "subst" "0.36904" "02326" "SPTB_000079" "g.65263300C>T" "" "" "" "SPTB(NM_001024858.3):c.1316G>A (p.S439N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64796582C>T" "" "benign" "" "0000314028" "0" "10" "14" "65263174" "65263174" "subst" "0" "02326" "SPTB_000078" "g.65263174G>A" "" "" "" "SPTB(NM_001024858.3):c.1341+101C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64796456G>A" "" "benign" "" "0000314029" "0" "10" "14" "65262425" "65262425" "subst" "0" "02326" "SPTB_000077" "g.65262425C>A" "" "" "" "SPTB(NM_001024858.3):c.1342-68G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64795707C>A" "" "benign" "" "0000314030" "0" "10" "14" "65289534" "65289534" "subst" "0" "02326" "SPTB_000109" "g.65289534G>A" "" "" "" "SPTB(NM_001024858.3):c.148+131C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64822816G>A" "" "benign" "" "0000314031" "0" "30" "14" "65289609" "65289609" "subst" "0" "02326" "SPTB_000111" "g.65289609C>T" "" "" "" "SPTB(NM_001024858.3):c.148+56G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64822891C>T" "" "likely benign" "" "0000314032" "0" "10" "14" "65261403" "65261403" "subst" "0" "02326" "SPTB_000076" "g.65261403C>A" "" "" "" "SPTB(NM_001024858.3):c.1645-68G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64794685C>A" "" "benign" "" "0000314033" "0" "90" "14" "65261260" "65261269" "del" "0" "02326" "SPTB_000075" "g.65261260_65261269del" "" "" "" "SPTB(NM_001024858.3):c.1714_1723delTTGATGGAAG (p.M573Tfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64794542_64794551del" "" "pathogenic" "" "0000314034" "0" "10" "14" "65271780" "65271780" "subst" "0.0523608" "02326" "SPTB_000108" "g.65271780G>A" "" "" "" "SPTB(NM_001024858.3):c.177C>T (p.T59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64805062G>A" "" "benign" "" "0000314035" "0" "10" "14" "65260543" "65260543" "subst" "0.00275113" "02326" "SPTB_000073" "g.65260543C>A" "" "" "" "SPTB(NM_001024858.3):c.1838G>T (p.S613I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64793825C>A" "" "benign" "" "0000314036" "0" "90" "14" "65260244" "65260244" "subst" "0" "02326" "SPTB_000072" "g.65260244G>A" "" "" "" "SPTB(NM_001024858.3):c.2137C>T (p.Q713*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64793526G>A" "" "pathogenic" "" "0000314037" "0" "10" "14" "65260227" "65260227" "subst" "0.378986" "02326" "SPTB_000071" "g.65260227T>G" "" "" "" "SPTB(NM_001024858.3):c.2154A>C (p.I718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64793509T>G" "" "benign" "" "0000314038" "0" "10" "14" "65259819" "65259819" "subst" "0.00281849" "02326" "SPTB_000070" "g.65259819G>A" "" "" "" "SPTB(NM_001024858.3):c.2562C>T (p.F854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64793101G>A" "" "benign" "" "0000314039" "0" "10" "14" "65259621" "65259621" "subst" "0" "02326" "SPTB_000069" "g.65259621C>A" "" "" "" "SPTB(NM_001024858.3):c.2666+94G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64792903C>A" "" "benign" "" "0000314040" "0" "10" "14" "65258644" "65258644" "subst" "0" "02326" "SPTB_000068" "g.65258644C>G" "" "" "" "SPTB(NM_001024858.3):c.2667-70G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64791926C>G" "" "benign" "" "0000314041" "0" "30" "14" "65253900" "65253900" "subst" "0" "02326" "SPTB_000066" "g.65253900C>T" "" "" "" "SPTB(NM_001024858.3):c.2805-22G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64787182C>T" "" "likely benign" "" "0000314042" "0" "10" "14" "65253749" "65253749" "subst" "0.0127311" "02326" "SPTB_000065" "g.65253749C>T" "" "" "" "SPTB(NM_001024858.3):c.2934G>A (p.E978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64787031C>T" "" "benign" "" "0000314043" "0" "10" "14" "65271517" "65271517" "subst" "0" "02326" "SPTB_000104" "g.65271517C>T" "" "" "" "SPTB(NM_001024858.3):c.300+140G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64804799C>T" "" "benign" "" "0000314044" "0" "10" "14" "65271634" "65271634" "subst" "0.240598" "02326" "SPTB_000106" "g.65271634G>A" "" "" "" "SPTB(NM_001024858.3):c.300+23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64804916G>A" "" "benign" "" "0000314045" "0" "10" "14" "65271600" "65271600" "subst" "0" "02326" "SPTB_000105" "g.65271600C>A" "" "" "" "SPTB(NM_001024858.3):c.300+57G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64804882C>A" "" "benign" "" "0000314046" "0" "10" "14" "65270516" "65270516" "subst" "0.000874819" "02326" "SPTB_000101" "g.65270516C>T" "" "" "" "SPTB(NM_001024858.3):c.301-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64803798C>T" "" "benign" "" "0000314047" "0" "90" "14" "65253234" "65253234" "subst" "0" "02326" "SPTB_000064" "g.65253234C>T" "" "" "" "SPTB(NM_001024858.3):c.3449G>A (p.W1150*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64786516C>T" "" "pathogenic" "" "0000314048" "0" "10" "14" "65253232" "65253232" "subst" "0.321765" "02326" "SPTB_000063" "g.65253232T>C" "" "" "" "SPTB(NM_001024858.3):c.3451A>G (p.N1151D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64786514T>C" "" "benign" "" "0000314049" "0" "10" "14" "65252848" "65252848" "subst" "0" "02326" "SPTB_000062" "g.65252848C>T" "" "" "" "SPTB(NM_001024858.3):c.3562-179G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64786130C>T" "" "benign" "" "0000314050" "0" "10" "14" "65252732" "65252732" "subst" "0" "02326" "SPTB_000060" "g.65252732C>A" "" "" "" "SPTB(NM_001024858.3):c.3562-63G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64786014C>A" "" "benign" "" "0000314051" "0" "30" "14" "65252733" "65252733" "subst" "0" "02326" "SPTB_000061" "g.65252733C>A" "" "" "" "SPTB(NM_001024858.3):c.3562-64G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64786015C>A" "" "likely benign" "" "0000314052" "0" "10" "14" "65252443" "65252443" "subst" "0.00918072" "02326" "SPTB_000059" "g.65252443C>T" "" "" "" "SPTB(NM_001024858.3):c.3764+24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64785725C>T" "" "benign" "" "0000314053" "0" "10" "14" "65252115" "65252115" "subst" "0" "02326" "SPTB_000057" "g.65252115T>C" "" "" "" "SPTB(NM_001024858.3):c.3855+140A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64785397T>C" "" "benign" "" "0000314054" "0" "10" "14" "65252095" "65252095" "subst" "0" "02326" "SPTB_000056" "g.65252095G>T" "" "" "" "SPTB(NM_001024858.3):c.3855+160C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64785377G>T" "" "benign" "" "0000314055" "0" "10" "14" "65252080" "65252081" "del" "0" "02326" "SPTB_000054" "g.65252080_65252081del" "" "" "" "SPTB(NM_001024858.3):c.3855+184_3855+185delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64785362_64785363del" "" "benign" "" "0000314057" "0" "10" "14" "65252188" "65252188" "subst" "0" "02326" "SPTB_000058" "g.65252188C>T" "" "" "" "SPTB(NM_001024858.3):c.3855+67G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64785470C>T" "" "benign" "" "0000314058" "0" "10" "14" "65251233" "65251234" "del" "0" "02326" "SPTB_000052" "g.65251233_65251234del" "" "" "" "SPTB(NM_001024858.3):c.3856-120_3856-119delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64784515_64784516del" "" "benign" "" "0000314059" "0" "10" "14" "65250828" "65250828" "subst" "0" "02326" "SPTB_000050" "g.65250828C>T" "" "" "" "SPTB(NM_001024858.3):c.4002+137G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64784110C>T" "" "benign" "" "0000314060" "0" "10" "14" "65270391" "65270391" "subst" "0.0612698" "02326" "SPTB_000099" "g.65270391G>A" "" "" "" "SPTB(NM_001024858.3):c.408C>T (p.H136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64803673G>A" "" "benign" "" "0000314061" "0" "10" "14" "65249153" "65249153" "subst" "0.0330097" "02326" "SPTB_000049" "g.65249153T>C" "" "" "" "SPTB(NM_001024858.3):c.4121A>G (p.H1374R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64782435T>C" "" "benign" "" "0000314062" "0" "10" "14" "65249066" "65249066" "subst" "0.0642282" "02326" "SPTB_000048" "g.65249066C>T" "" "" "" "SPTB(NM_001024858.3):c.4208G>A (p.R1403Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64782348C>T" "" "benign" "" "0000314063" "0" "10" "14" "65246623" "65246623" "subst" "0.335614" "02326" "SPTB_000046" "g.65246623T>C" "" "" "" "SPTB(NM_001024858.3):c.4293A>G (p.R1431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64779905T>C" "" "benign" "" "0000314064" "0" "10" "14" "65246006" "65246006" "subst" "0.256305" "02326" "SPTB_000044" "g.65246006G>A" "" "" "" "SPTB(NM_001024858.3):c.4474-42C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64779288G>A" "" "benign" "" "0000314065" "0" "10" "14" "65246040" "65246040" "subst" "0" "02326" "SPTB_000045" "g.65246040G>A" "" "" "" "SPTB(NM_001024858.3):c.4474-76C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64779322G>A" "" "benign" "" "0000314066" "0" "10" "14" "65245863" "65245863" "subst" "0.26622" "02326" "SPTB_000042" "g.65245863C>G" "" "" "" "SPTB(NM_001024858.3):c.4563+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64779145C>G" "" "benign" "" "0000314067" "0" "10" "14" "65242125" "65242125" "subst" "0.0598392" "02326" "SPTB_000041" "g.65242125C>T" "" "" "" "SPTB(NM_001024858.3):c.4564-4G>A, SPTB(NM_001024858.4):c.4564-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64775407C>T" "" "benign" "" "0000314068" "0" "10" "14" "65242067" "65242067" "subst" "0.0030868" "02326" "SPTB_000040" "g.65242067T>G" "" "" "" "SPTB(NM_001024858.3):c.4618A>C (p.R1540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64775349T>G" "" "benign" "" "0000314069" "0" "10" "14" "65242044" "65242044" "subst" "0.255893" "02326" "SPTB_000039" "g.65242044C>T" "" "" "" "SPTB(NM_001024858.3):c.4641G>A (p.A1547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64775326C>T" "" "benign" "" "0000314070" "0" "10" "14" "65270216" "65270216" "del" "0" "02326" "SPTB_000096" "g.65270216del" "" "" "" "SPTB(NM_001024858.3):c.474+110delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64803498del" "" "benign" "" "0000314071" "0" "10" "14" "65270272" "65270272" "subst" "0" "02326" "SPTB_000098" "g.65270272C>A" "" "" "" "SPTB(NM_001024858.3):c.474+53G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64803554C>A" "" "benign" "" "0000314072" "0" "10" "14" "65241933" "65241933" "subst" "0.0605292" "02326" "SPTB_000038" "g.65241933G>A" "" "" "" "SPTB(NM_001024858.3):c.4752C>T (p.N1584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64775215G>A" "" "benign" "" "0000314073" "0" "10" "14" "65241906" "65241906" "subst" "0.0606807" "02326" "SPTB_000037" "g.65241906T>C" "" "" "" "SPTB(NM_001024858.3):c.4779A>G (p.A1593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64775188T>C" "" "benign" "" "0000314074" "0" "10" "14" "65241867" "65241867" "subst" "0.0608915" "02326" "SPTB_000036" "g.65241867G>A" "" "" "" "SPTB(NM_001024858.3):c.4818C>T (p.Y1606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64775149G>A" "" "benign" "" "0000314075" "0" "10" "14" "65240949" "65240949" "subst" "0" "02326" "SPTB_000034" "g.65240949C>T" "" "" "" "SPTB(NM_001024858.3):c.4973+166G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64774231C>T" "" "benign" "" "0000314076" "0" "10" "14" "65240934" "65240934" "subst" "0" "02326" "SPTB_000033" "g.65240934C>T" "" "" "" "SPTB(NM_001024858.3):c.4973+181G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64774216C>T" "" "benign" "" "0000314077" "0" "10" "14" "65240260" "65240260" "subst" "0" "02326" "SPTB_000032" "g.65240260G>A" "" "" "" "SPTB(NM_001024858.3):c.4974-118C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64773542G>A" "" "benign" "" "0000314078" "0" "10" "14" "65239894" "65239894" "subst" "0.0849769" "02326" "SPTB_000031" "g.65239894C>T" "" "" "" "SPTB(NM_001024858.3):c.5178+44G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64773176C>T" "" "benign" "" "0000314079" "0" "10" "14" "65239877" "65239877" "subst" "0" "02326" "SPTB_000030" "g.65239877C>T" "" "" "" "SPTB(NM_001024858.3):c.5178+61G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64773159C>T" "" "benign" "" "0000314080" "0" "10" "14" "65239772" "65239772" "subst" "0" "02326" "SPTB_000029" "g.65239772G>A" "" "" "" "SPTB(NM_001024858.3):c.5179-100C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64773054G>A" "" "benign" "" "0000314081" "0" "10" "14" "65239316" "65239316" "subst" "0.0597107" "02326" "SPTB_000028" "g.65239316G>A" "" "" "" "SPTB(NM_001024858.3):c.5535C>T (p.L1845=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64772598G>A" "" "benign" "" "0000314082" "0" "10" "14" "65237549" "65237549" "subst" "0" "02326" "SPTB_000027" "g.65237549G>A" "" "" "" "SPTB(NM_001024858.3):c.5798+54C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64770831G>A" "" "benign" "" "0000314083" "0" "10" "14" "65236547" "65236547" "subst" "0" "02326" "SPTB_000026" "g.65236547G>C" "" "" "" "SPTB(NM_001024858.3):c.5799-101C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64769829G>C" "" "benign" "" "0000314084" "0" "10" "14" "65236453" "65236453" "subst" "0.0987525" "02326" "SPTB_000024" "g.65236453G>A" "" "" "" "SPTB(NM_001024858.3):c.5799-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64769735G>A" "" "benign" "" "0000314085" "0" "10" "14" "65236536" "65236536" "subst" "0" "02326" "SPTB_000025" "g.65236536C>A" "" "" "" "SPTB(NM_001024858.3):c.5799-90G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64769818C>A" "" "benign" "" "0000314086" "0" "10" "14" "65235709" "65235709" "subst" "0.00397035" "02326" "SPTB_000023" "g.65235709G>A" "" "" "" "SPTB(NM_001024858.3):c.6022+43C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64768991G>A" "" "benign" "" "0000314087" "0" "10" "14" "65234585" "65234585" "subst" "0.104543" "02326" "SPTB_000022" "g.65234585G>A" "" "" "" "SPTB(NM_001024858.3):c.6023-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64767867G>A" "" "benign" "" "0000314088" "0" "10" "14" "65268510" "65268510" "subst" "0.0108173" "02326" "SPTB_000092" "g.65268510C>T" "" "" "" "SPTB(NM_001024858.3):c.609G>A (p.K203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64801792C>T" "" "benign" "" "0000314089" "0" "10" "14" "65234086" "65234086" "subst" "0.00389894" "02326" "SPTB_000018" "g.65234086G>T" "" "" "" "SPTB(NM_001024858.3):c.6220-16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64767368G>T" "" "benign" "" "0000314090" "0" "10" "14" "65234100" "65234100" "subst" "0.0837959" "02326" "SPTB_000019" "g.65234100G>A" "" "" "" "SPTB(NM_001024858.3):c.6220-30C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64767382G>A" "" "benign" "" "0000314091" "0" "10" "14" "65234148" "65234148" "subst" "0" "02326" "SPTB_000020" "g.65234148G>A" "" "" "" "SPTB(NM_001024858.3):c.6220-78C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64767430G>A" "" "benign" "" "0000314092" "0" "10" "14" "65234169" "65234169" "subst" "0" "02326" "SPTB_000021" "g.65234169C>T" "" "" "" "SPTB(NM_001024858.3):c.6220-99G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64767451C>T" "" "benign" "" "0000314093" "0" "10" "14" "65233900" "65233900" "subst" "0" "02326" "SPTB_000015" "g.65233900G>A" "" "" "" "SPTB(NM_001024858.3):c.6269+121C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64767182G>A" "" "benign" "" "0000314094" "0" "10" "14" "65234008" "65234008" "subst" "0.103454" "02326" "SPTB_000017" "g.65234008G>A" "" "" "" "SPTB(NM_001024858.3):c.6269+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64767290G>A" "" "benign" "" "0000314095" "0" "10" "14" "65230358" "65230358" "subst" "0" "02326" "SPTB_000014" "g.65230358C>T" "" "" "" "SPTB(NM_001024858.3):c.6345+3086G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64763640C>T" "" "benign" "" "0000314096" "0" "10" "14" "65230317" "65230317" "subst" "0" "02326" "SPTB_000012" "g.65230317C>T" "" "" "" "SPTB(NM_001024858.3):c.6345+3127G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64763599C>T" "" "benign" "" "0000314097" "0" "10" "14" "65268451" "65268451" "subst" "0.0127667" "02326" "SPTB_000091" "g.65268451C>T" "" "" "" "SPTB(NM_001024858.3):c.647+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64801733C>T" "" "benign" "" "0000314098" "0" "10" "14" "65268404" "65268404" "subst" "0" "02326" "SPTB_000090" "g.65268404G>T" "" "" "" "SPTB(NM_001024858.3):c.647+68C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64801686G>T" "" "benign" "" "0000314099" "0" "10" "14" "65268231" "65268231" "subst" "0" "02326" "SPTB_000088" "g.65268231G>A" "" "" "" "SPTB(NM_001024858.3):c.648-113C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64801513G>A" "" "benign" "" "0000314100" "0" "10" "14" "65268167" "65268167" "subst" "0.314727" "02326" "SPTB_000087" "g.65268167C>T" "" "" "" "SPTB(NM_001024858.3):c.648-49G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64801449C>T" "" "benign" "" "0000314101" "0" "10" "14" "65219101" "65219104" "del" "0" "02326" "SPTB_000116" "g.65219101_65219104del" "" "" "" "SPTB(NM_001024858.3):c.6602+1156_6602+1159delCTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64752383_64752386del" "" "benign" "" "0000314102" "0" "10" "14" "65220117" "65220117" "subst" "0" "02326" "SPTB_000117" "g.65220117G>A" "" "" "" "SPTB(NM_001024858.3):c.6602+138C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64753399G>A" "" "benign" "" "0000314103" "0" "10" "14" "65216961" "65216961" "subst" "0" "02326" "PLEKHG3_000003" "g.65216961C>A" "" "" "" "SPTB(NM_001024858.3):c.6603-89G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64750243C>A" "" "benign" "" "0000314104" "0" "10" "14" "65216120" "65216120" "subst" "0.0667666" "02326" "PLEKHG3_000002" "g.65216120C>T" "" "" "" "SPTB(NM_001024858.3):c.6891G>A (p.A2297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64749402C>T" "" "benign" "" "0000314105" "0" "10" "14" "65267610" "65267610" "dup" "0" "02326" "SPTB_000085" "g.65267610dup" "" "" "" "SPTB(NM_001024858.3):c.764-25_764-24insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64800892dup" "" "benign" "" "0000314106" "0" "10" "14" "65267469" "65267469" "subst" "0.316631" "02326" "SPTB_000084" "g.65267469T>C" "" "" "" "SPTB(NM_001024858.3):c.876+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64800751T>C" "" "benign" "" "0000314107" "0" "10" "14" "65266533" "65266533" "subst" "0.0069938" "02326" "SPTB_000083" "g.65266533G>A" "" "" "" "SPTB(NM_001024858.3):c.996C>T (p.N332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64799815G>A" "" "benign" "" "0000315652" "0" "30" "14" "65261194" "65261194" "subst" "1.2185E-5" "01943" "SPTB_000074" "g.65261194C>T" "" "" "" "SPTB(NM_001024858.3):c.1786G>A (p.E596K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64794476C>T" "" "likely benign" "" "0000315653" "0" "30" "14" "65242067" "65242067" "subst" "0.0030868" "01943" "SPTB_000040" "g.65242067T>G" "" "" "" "SPTB(NM_001024858.3):c.4618A>C (p.R1540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64775349T>G" "" "likely benign" "" "0000552830" "0" "30" "14" "65233527" "65233529" "dup" "0" "01943" "SPTB_000119" "g.65233527_65233529dup" "" "" "" "SPTB(NM_001024858.3):c.6270-8_6270-6dupTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64766809_64766811dup" "" "likely benign" "" "0000552831" "0" "50" "14" "65236390" "65236390" "subst" "0.000580781" "01943" "SPTB_000120" "g.65236390A>G" "" "" "" "SPTB(NM_001024858.3):c.5855T>C (p.I1952T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64769672A>G" "" "VUS" "" "0000552832" "0" "30" "14" "65237750" "65237750" "subst" "0.00146655" "02326" "SPTB_000121" "g.65237750G>A" "" "" "" "SPTB(NM_001024858.3):c.5651C>T (p.A1884V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64771032G>A" "" "likely benign" "" "0000552833" "0" "50" "14" "65239384" "65239384" "subst" "0.000162876" "01943" "SPTB_000122" "g.65239384C>T" "" "" "" "SPTB(NM_001024858.3):c.5467G>A (p.D1823N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64772666C>T" "" "VUS" "" "0000552834" "0" "90" "14" "65240002" "65240002" "subst" "0" "02326" "SPTB_000123" "g.65240002C>T" "" "" "" "SPTB(NM_001024858.3):c.5114G>A (p.W1705*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64773284C>T" "" "pathogenic" "" "0000552835" "0" "10" "14" "65245956" "65245956" "subst" "0.266282" "02326" "SPTB_000124" "g.65245956C>T" "" "" "" "SPTB(NM_001024858.3):c.4482G>A (p.V1494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64779238C>T" "" "benign" "" "0000552836" "0" "10" "14" "65246227" "65246227" "subst" "0" "02326" "SPTB_000125" "g.65246227C>A" "" "" "" "SPTB(NM_001024858.3):c.4473+216G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64779509C>A" "" "benign" "" "0000552837" "0" "10" "14" "65249052" "65249052" "subst" "0.0648872" "02326" "SPTB_000126" "g.65249052C>G" "" "" "" "SPTB(NM_001024858.3):c.4222G>C (p.G1408R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64782334C>G" "" "benign" "" "0000552838" "0" "10" "14" "65259581" "65259581" "subst" "0" "02326" "SPTB_000127" "g.65259581G>T" "" "" "" "SPTB(NM_001024858.3):c.2666+134C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64792863G>T" "" "benign" "" "0000552839" "0" "50" "14" "65259901" "65259901" "subst" "0.000545825" "02326" "SPTB_000128" "g.65259901C>T" "" "" "" "SPTB(NM_001024858.3):c.2480G>A (p.R827Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64793183C>T" "" "VUS" "" "0000552840" "0" "10" "14" "65261215" "65261215" "subst" "0.00170557" "02326" "SPTB_000129" "g.65261215C>T" "" "" "" "SPTB(NM_001024858.3):c.1765G>A (p.A589T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64794497C>T" "" "benign" "" "0000552841" "0" "10" "14" "65263593" "65263593" "dup" "0" "02326" "SPTB_000130" "g.65263593dup" "" "" "" "SPTB(NM_001024858.3):c.1183-158dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64796875dup" "" "benign" "" "0000552842" "0" "10" "14" "65271633" "65271633" "subst" "0.00401112" "02326" "SPTB_000131" "g.65271633C>T" "" "" "" "SPTB(NM_001024858.3):c.300+24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64804915C>T" "" "benign" "" "0000615045" "0" "30" "14" "65260245" "65260245" "subst" "0.000411278" "01943" "SPTB_000132" "g.65260245C>T" "" "" "" "SPTB(NM_001024858.3):c.2136G>A (p.P712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64793527C>T" "" "likely benign" "" "0000648943" "1" "90" "14" "65234443" "65234443" "subst" "8.1213E-6" "03575" "SPTB_000133" "g.65234443C>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121918645}" "Germline" "" "rs121918645" "0" "" "" "g.64767725C>G" "" "pathogenic" "" "0000648944" "1" "50" "14" "65236390" "65236390" "subst" "0.000580781" "03575" "SPTB_000120" "g.65236390A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs138039383}" "Germline" "" "rs138039383" "0" "" "" "g.64769672A>G" "" "VUS" "" "0000648945" "1" "30" "14" "65241867" "65241867" "subst" "0.0608915" "03575" "SPTB_000036" "g.65241867G>A" "170/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "170 heterozygous; {DB:CLININrs4899145}" "Germline" "" "rs4899145" "0" "" "" "g.64775149G>A" "" "likely benign" "" "0000648946" "1" "50" "14" "65249199" "65249199" "subst" "0.000959435" "03575" "SPTB_000134" "g.65249199G>A" "18/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs189656371}" "Germline" "" "rs189656371" "0" "" "" "g.64782481G>A" "" "VUS" "" "0000648947" "1" "30" "14" "65253749" "65253749" "subst" "0.0127311" "03575" "SPTB_000065" "g.65253749C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs72724498}" "Germline" "" "rs72724498" "0" "" "" "g.64787031C>T" "" "likely benign" "" "0000648948" "1" "30" "14" "65260321" "65260321" "subst" "0.00251989" "03575" "SPTB_000135" "g.65260321C>T" "18/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs3742602}" "Germline" "" "rs3742602" "0" "" "" "g.64793603C>T" "" "likely benign" "" "0000648949" "1" "30" "14" "65260543" "65260543" "subst" "0.00275113" "03575" "SPTB_000073" "g.65260543C>A" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs3742601}" "Germline" "" "rs3742601" "0" "" "" "g.64793825C>A" "" "likely benign" "" "0000657463" "0" "30" "14" "65220374" "65220374" "subst" "0.00365224" "01943" "SPTB_000136" "g.65220374G>A" "" "" "" "SPTB(NM_001024858.3):c.6483C>T (p.S2161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64753656G>A" "" "likely benign" "" "0000657464" "0" "50" "14" "65220384" "65220384" "subst" "0.000113749" "01943" "SPTB_000137" "g.65220384G>A" "" "" "" "SPTB(NM_001024858.3):c.6473C>T (p.T2158M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64753666G>A" "" "VUS" "" "0000657466" "0" "30" "14" "65262076" "65262076" "subst" "5.79777E-5" "01943" "SPTB_000138" "g.65262076G>A" "" "" "" "SPTB(NM_001024858.3):c.1623C>T (p.I541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64795358G>A" "" "likely benign" "" "0000667938" "0" "30" "14" "65240066" "65240066" "subst" "0.00041419" "03694" "SPTB_000139" "g.65240066G>A" "" "" "" "" "" "Germline" "-" "rs141226650" "0" "" "" "g.64773348G>A" "" "likely benign" "ACMG" "0000669256" "3" "30" "14" "65241867" "65241867" "subst" "0.0608915" "03575" "SPTB_000036" "g.65241867G>A" "4/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs4899145}" "Germline" "" "rs4899145" "0" "" "" "g.64775149G>A" "" "likely benign" "" "0000680006" "0" "30" "14" "65220252" "65220252" "subst" "0.000110589" "01943" "SPTB_000140" "g.65220252C>T" "" "" "" "SPTB(NM_001024858.3):c.6602+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680007" "0" "30" "14" "65220342" "65220342" "subst" "0.00136599" "01943" "SPTB_000141" "g.65220342G>A" "" "" "" "SPTB(NM_001024858.3):c.6515C>T (p.P2172L), SPTB(NM_001355436.2):c.6515C>T (p.P2172L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680008" "0" "90" "14" "65234057" "65234057" "del" "0" "01943" "SPTB_000142" "g.65234057del" "" "" "" "SPTB(NM_001024858.3):c.6234delA (p.E2078Dfs*79)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680009" "0" "30" "14" "65237750" "65237750" "subst" "0.00146655" "01943" "SPTB_000121" "g.65237750G>A" "" "" "" "SPTB(NM_001024858.3):c.5651C>T (p.A1884V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680010" "0" "30" "14" "65261207" "65261207" "subst" "0.000101522" "01943" "SPTB_000143" "g.65261207G>C" "" "" "" "SPTB(NM_001024858.3):c.1773C>G (p.T591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680011" "0" "30" "14" "65261240" "65261240" "subst" "0" "01943" "SPTB_000144" "g.65261240T>C" "" "" "" "SPTB(NM_001024858.3):c.1740A>G (p.Q580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684791" "0" "30" "14" "65249066" "65249066" "subst" "0.0642282" "00004" "SPTB_000048" "g.65249066C>T" "frequency 0.036" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.64782348C>T" "" "likely benign" "" "0000687287" "1" "70" "14" "65266464" "65266464" "subst" "0" "03784" "SPTB_000145" "g.65266464G>A" "" "{PMID:Nieminen 2021:33943044}" "" "" "SPTB mRNA subject to nonsense‐mediated mRNA decay" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000724838" "0" "30" "14" "65220482" "65220482" "subst" "0" "01943" "SPTB_000146" "g.65220482G>T" "" "" "" "SPTB(NM_001024858.3):c.6375C>A (p.N2125K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724839" "0" "30" "14" "65237651" "65237651" "subst" "0.00109897" "01943" "SPTB_000147" "g.65237651G>A" "" "" "" "SPTB(NM_001024858.3):c.5750C>T (p.S1917F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724840" "0" "50" "14" "65266465" "65266465" "subst" "0" "01943" "SPTB_000148" "g.65266465T>G" "" "" "" "SPTB(NM_001024858.3):c.1064A>C (p.K355T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724841" "0" "90" "14" "65268513" "65268513" "subst" "0" "02326" "SPTB_000149" "g.65268513C>T" "" "" "" "SPTB(NM_001024858.3):c.606G>A (p.W202*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806458" "0" "30" "14" "65234426" "65234426" "subst" "0.000905576" "01943" "SPTB_000150" "g.65234426C>T" "" "" "" "SPTB(NM_001024858.3):c.6174G>A (p.T2058=), SPTB(NM_001355436.2):c.6174G>A (p.T2058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806459" "0" "50" "14" "65239399" "65239399" "subst" "1.62717E-5" "01943" "SPTB_000151" "g.65239399G>A" "" "" "" "SPTB(NM_001024858.3):c.5452C>T (p.R1818C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806460" "0" "50" "14" "65239540" "65239540" "subst" "0" "01943" "SPTB_000152" "g.65239540A>G" "" "" "" "SPTB(NM_001024858.3):c.5311T>C (p.W1771R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806461" "0" "30" "14" "65241180" "65241180" "subst" "0" "01943" "SPTB_000153" "g.65241180G>A" "" "" "" "SPTB(NM_001024858.3):c.4908C>T (p.Y1636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806462" "0" "90" "14" "65250986" "65251002" "del" "0" "02326" "SPTB_000154" "g.65250986_65251002del" "" "" "" "SPTB(NM_001024858.3):c.3970_3986delTCCCATGAAGGGTGGCT (p.S1324Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806463" "0" "30" "14" "65263323" "65263323" "subst" "4.06068E-5" "01943" "SPTB_000155" "g.65263323G>A" "" "" "" "SPTB(NM_001024858.3):c.1293C>T (p.A431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806464" "0" "30" "14" "65268070" "65268070" "subst" "5.27953E-5" "01943" "SPTB_000156" "g.65268070G>A" "" "" "" "SPTB(NM_001024858.3):c.696C>T (p.H232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000816213" "0" "50" "15" "31332445" "31332445" "subst" "0.000300508" "00000" "TRPM1_000101" "g.31332445G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "TRPM1 c.2126C>T, p.Ser748Leu" "Conflicting in silico interpretations, heterozygous" "Unknown" "?" "" "0" "" "" "g.31040242G>A" "" "VUS" "" "0000853866" "0" "30" "14" "65253349" "65253349" "subst" "0.000324905" "01943" "SPTB_000157" "g.65253349C>T" "" "" "" "SPTB(NM_001024858.3):c.3334G>A (p.G1112R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853867" "0" "50" "14" "65253580" "65253580" "subst" "0.000453372" "01943" "SPTB_000158" "g.65253580G>A" "" "" "" "SPTB(NM_001024858.2):c.3103C>T (p.(Arg1035Trp)), SPTB(NM_001024858.3):c.3103C>T (p.R1035W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863619" "0" "50" "14" "65258483" "65258483" "subst" "0" "01943" "SPTB_000159" "g.65258483G>T" "" "" "" "SPTB(NM_001024858.3):c.2758C>A (p.P920T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863620" "0" "50" "14" "65263313" "65263313" "subst" "0.000393877" "01943" "SPTB_000160" "g.65263313C>G" "" "" "" "SPTB(NM_001024858.3):c.1303G>C (p.E435Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891846" "0" "90" "14" "65251051" "65251051" "subst" "0" "02326" "SPTB_000161" "g.65251051G>A" "" "" "" "SPTB(NM_001355436.2):c.3916C>T (p.R1306*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000891847" "0" "50" "14" "65253204" "65253204" "subst" "0.000502279" "02327" "SPTB_000162" "g.65253204C>T" "" "" "" "SPTB(NM_001024858.2):c.3479G>A (p.(Arg1160His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891848" "0" "90" "14" "65260469" "65260469" "subst" "0" "02326" "SPTB_000163" "g.65260469G>A" "" "" "" "SPTB(NM_001355436.2):c.1912C>T (p.R638*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000891849" "0" "90" "14" "65262192" "65262192" "del" "0" "02326" "SPTB_000164" "g.65262192del" "" "" "" "SPTB(NM_001355436.2):c.1508delA (p.K503Rfs*70)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000891850" "0" "30" "14" "65271753" "65271753" "subst" "0.00122638" "02326" "SPTB_000165" "g.65271753C>T" "" "" "" "SPTB(NM_001355436.2):c.204G>A (p.L68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914209" "0" "90" "14" "65259819" "65259820" "ins" "0" "02326" "SPTB_000166" "g.65259819_65259820insTGTACAGG" "" "" "" "SPTB(NM_001355436.2):c.2562_2563insCTGTACAC (p.G855Lfs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925899" "0" "30" "14" "65220342" "65220342" "subst" "0.00136599" "02326" "SPTB_000141" "g.65220342G>A" "" "" "" "SPTB(NM_001024858.3):c.6515C>T (p.P2172L), SPTB(NM_001355436.2):c.6515C>T (p.P2172L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925900" "0" "30" "14" "65266565" "65266565" "subst" "0.000235604" "02326" "SPTB_000167" "g.65266565T>C" "" "" "" "SPTB(NM_001024858.2):c.964A>G (p.(Ile322Val)), SPTB(NM_001355436.2):c.964A>G (p.I322V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930320" "0" "90" "14" "65249248" "65249248" "del" "0" "02327" "SPTB_000168" "g.65249248del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931475" "0" "50" "14" "65252425" "65252425" "subst" "4.06385E-5" "03779" "SPTB_000169" "g.65252425G>A" "" "" "" "" "" "Unknown" "" "rs202231916" "0" "" "" "" "" "VUS" "" "0000931589" "0" "90" "14" "65241110" "65241110" "subst" "0" "03779" "SPTB_000170" "g.65241110C>T" "" "" "" "" "" "Unknown" "" "rs1555367789" "0" "" "" "" "" "pathogenic" "" "0000952427" "0" "90" "14" "65253716" "65253716" "dup" "0" "03779" "SPTB_000171" "g.65253716dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000967518" "0" "30" "14" "65234426" "65234426" "subst" "0.000905576" "02326" "SPTB_000150" "g.65234426C>T" "" "" "" "SPTB(NM_001024858.3):c.6174G>A (p.T2058=), SPTB(NM_001355436.2):c.6174G>A (p.T2058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967520" "0" "30" "14" "65266521" "65266521" "subst" "4.47952E-5" "02326" "SPTB_000172" "g.65266521G>A" "" "" "" "SPTB(NM_001355436.2):c.1008C>T (p.G336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980959" "0" "50" "14" "65216146" "65216146" "subst" "0" "02325" "PLEKHG3_000004" "g.65216146C>T" "" "" "" "SPTB(NM_001355436.2):c.6865G>A (p.E2289K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980960" "0" "50" "14" "65259994" "65259994" "subst" "6.65735E-5" "01804" "SPTB_000173" "g.65259994C>T" "" "" "" "SPTB(NM_001355436.2):c.2387G>A (p.(Arg796His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980961" "0" "50" "14" "65268950" "65268950" "subst" "8.12189E-5" "01804" "SPTB_000174" "g.65268950G>A" "" "" "" "SPTB(NM_001355436.2):c.560C>T (p.(Thr187Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001083" "0" "30" "14" "65216128" "65216128" "subst" "8.38926E-6" "01804" "PLEKHG3_000005" "g.65216128C>T" "" "" "" "SPTB(NM_001024858.2):c.6883G>A (p.(Val2295Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001084" "0" "30" "14" "65216688" "65216688" "subst" "3.65464E-5" "02326" "PLEKHG3_000006" "g.65216688G>A" "" "" "" "SPTB(NM_001355436.2):c.6776+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001085" "0" "50" "14" "65220354" "65220354" "subst" "6.9077E-5" "01804" "SPTB_000175" "g.65220354G>A" "" "" "" "SPTB(NM_001024858.2):c.6503C>T (p.(Thr2168Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001086" "0" "30" "14" "65234034" "65234034" "subst" "3.65654E-5" "01804" "SPTB_000176" "g.65234034C>T" "" "" "" "SPTB(NM_001024858.2):c.6256G>A (p.(Ala2086Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001087" "0" "30" "14" "65237631" "65237631" "subst" "4.89676E-5" "01804" "SPTB_000177" "g.65237631G>A" "" "" "" "SPTB(NM_001024858.2):c.5770C>T (p.(Arg1924Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001088" "0" "30" "14" "65239323" "65239323" "subst" "3.31241E-5" "01804" "SPTB_000178" "g.65239323C>T" "" "" "" "SPTB(NM_001024858.2):c.5528G>A (p.(Arg1843Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001089" "0" "50" "14" "65239666" "65239666" "subst" "1.69526E-5" "01804" "SPTB_000179" "g.65239666G>A" "" "" "" "SPTB(NM_001024858.2):c.5185C>T (p.(Arg1729Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001090" "0" "50" "14" "65251050" "65251050" "subst" "2.43639E-5" "01804" "SPTB_000180" "g.65251050C>T" "" "" "" "SPTB(NM_001024858.2):c.3917G>A (p.(Arg1306Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001091" "0" "50" "14" "65253204" "65253204" "subst" "0.000502279" "01804" "SPTB_000162" "g.65253204C>T" "" "" "" "SPTB(NM_001024858.2):c.3479G>A (p.(Arg1160His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001092" "0" "30" "14" "65253580" "65253580" "subst" "0.000453372" "01804" "SPTB_000158" "g.65253580G>A" "" "" "" "SPTB(NM_001024858.2):c.3103C>T (p.(Arg1035Trp)), SPTB(NM_001024858.3):c.3103C>T (p.R1035W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001093" "0" "50" "14" "65259917" "65259917" "subst" "2.85728E-5" "01804" "SPTB_000181" "g.65259917G>A" "" "" "" "SPTB(NM_001024858.2):c.2464C>T (p.(Arg822Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001094" "0" "50" "14" "65262093" "65262093" "subst" "0.000673567" "01804" "SPTB_000182" "g.65262093C>T" "" "" "" "SPTB(NM_001024858.2):c.1606G>A (p.(Asp536Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001095" "0" "70" "14" "65264430" "65264450" "del" "0" "01804" "SPTB_000183" "g.65264430_65264450del" "" "" "" "SPTB(NM_001024858.2):c.1179_1182+17delCAGGGTACCACAGCATTTTCC (p.(Asn393fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001096" "0" "50" "14" "65266565" "65266565" "subst" "0.000235604" "01804" "SPTB_000167" "g.65266565T>C" "" "" "" "SPTB(NM_001024858.2):c.964A>G (p.(Ile322Val)), SPTB(NM_001355436.2):c.964A>G (p.I322V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001097" "0" "50" "14" "65268539" "65268539" "subst" "0" "01804" "SPTB_000184" "g.65268539T>A" "" "" "" "SPTB(NM_001024858.2):c.580A>T (p.(Asn194Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026395" "0" "90" "14" "65239647" "65239648" "del" "0" "02326" "SPTB_000185" "g.65239647_65239648del" "" "" "" "SPTB(NM_001355436.2):c.5204_5205delTT (p.F1735Cfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 SPTB ## Count = 378 "{{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}}" "0000251035" "00020252" "10" "4860" "0" "4860" "0" "c.4860T>C" "r.(?)" "p.(Ile1620=)" "" "0000251035" "00025546" "10" "4860" "0" "4860" "0" "c.4860T>C" "r.(?)" "p.(Ile1620=)" "" "0000251036" "00020252" "10" "4476" "0" "4476" "0" "c.4476T>C" "r.(?)" "p.(Leu1492=)" "" "0000251036" "00025546" "10" "4476" "0" "4476" "0" "c.4476T>C" "r.(?)" "p.(Leu1492=)" "" "0000251037" "00020252" "10" "666" "0" "666" "0" "c.666T>C" "r.(?)" "p.(Phe222=)" "" "0000251037" "00025546" "10" "666" "0" "666" "0" "c.666T>C" "r.(?)" "p.(Phe222=)" "" "0000251038" "00020252" "10" "345" "0" "345" "0" "c.345T>C" "r.(?)" "p.(Asn115=)" "" "0000251038" "00025546" "10" "345" "0" "345" "0" "c.345T>C" "r.(?)" "p.(Asn115=)" "" "0000251552" "00020252" "10" "9467" "0" "9467" "0" "c.*3053T>C" "r.(=)" "p.(=)" "" "0000251552" "00025546" "10" "6345" "3122" "6345" "3122" "c.6345+3122T>C" "r.(=)" "p.(=)" "" "0000251553" "00020252" "10" "9041" "0" "9041" "0" "c.*2627T>C" "r.(=)" "p.(=)" "" "0000251553" "00025546" "10" "6345" "2696" "6345" "2696" "c.6345+2696T>C" "r.(=)" "p.(=)" "" "0000251554" "00020252" "10" "6269" "45" "6269" "45" "c.6269+45T>C" "r.(=)" "p.(=)" "" "0000251554" "00025546" "10" "6269" "45" "6269" "45" "c.6269+45T>C" "r.(=)" "p.(=)" "" "0000251555" "00020252" "10" "5937" "30" "5937" "30" "c.5937+30T>C" "r.(=)" "p.(=)" "" "0000251555" "00025546" "10" "5937" "30" "5937" "30" "c.5937+30T>C" "r.(=)" "p.(=)" "" "0000251556" "00020252" "10" "4474" "-47" "4474" "-47" "c.4474-47T>C" "r.(=)" "p.(=)" "" "0000251556" "00025546" "10" "4474" "-47" "4474" "-47" "c.4474-47T>C" "r.(=)" "p.(=)" "" "0000251557" "00020252" "10" "4473" "93" "4473" "93" "c.4473+93T>C" "r.(=)" "p.(=)" "" "0000251557" "00025546" "10" "4473" "93" "4473" "93" "c.4473+93T>C" "r.(=)" "p.(=)" "" "0000251558" "00020252" "10" "4266" "192" "4266" "192" "c.4266+192T>C" "r.(=)" "p.(=)" "" "0000251558" "00025546" "10" "4266" "192" "4266" "192" "c.4266+192T>C" "r.(=)" "p.(=)" "" "0000251559" "00020252" "10" "4003" "-12" "4003" "-12" "c.4003-12T>C" "r.(=)" "p.(=)" "" "0000251559" "00025546" "10" "4003" "-12" "4003" "-12" "c.4003-12T>C" "r.(=)" "p.(=)" "" "0000251560" "00020252" "10" "4002" "26" "4002" "26" "c.4002+26T>C" "r.(=)" "p.(=)" "" "0000251560" "00025546" "10" "4002" "26" "4002" "26" "c.4002+26T>C" "r.(=)" "p.(=)" "" "0000251561" "00020252" "10" "3855" "185" "3855" "185" "c.3855+185del" "r.(=)" "p.(=)" "" "0000251561" "00025546" "10" "3855" "185" "3855" "185" "c.3855+185del" "r.(=)" "p.(=)" "" "0000251563" "00020252" "10" "2805" "-129" "2805" "-129" "c.2805-129del" "r.(=)" "p.(=)" "" "0000251563" "00025546" "10" "2805" "-129" "2805" "-129" "c.2805-129del" "r.(=)" "p.(=)" "" "0000251564" "00020252" "10" "647" "148" "647" "148" "c.647+148T>A" "r.(=)" "p.(=)" "" "0000251564" "00025546" "10" "647" "148" "647" "148" "c.647+148T>A" "r.(=)" "p.(=)" "" "0000251565" "00020252" "10" "567" "-53" "567" "-53" "c.567-53T>C" "r.(=)" "p.(=)" "" "0000251565" "00025546" "10" "567" "-53" "567" "-53" "c.567-53T>C" "r.(=)" "p.(=)" "" "0000251566" "00020252" "10" "567" "-166" "567" "-166" "c.567-166T>C" "r.(=)" "p.(=)" "" "0000251566" "00025546" "10" "567" "-166" "567" "-166" "c.567-166T>C" "r.(=)" "p.(=)" "" "0000251567" "00020252" "10" "474" "103" "474" "103" "c.474+103T>C" "r.(=)" "p.(=)" "" "0000251567" "00025546" "10" "474" "103" "474" "103" "c.474+103T>C" "r.(=)" "p.(=)" "" "0000251568" "00020252" "10" "301" "-29" "301" "-29" "c.301-29T>C" "r.(=)" "p.(=)" "" "0000251568" "00025546" "10" "301" "-29" "301" "-29" "c.301-29T>C" "r.(=)" "p.(=)" "" "0000251569" "00020252" "10" "300" "177" "300" "177" "c.300+177T>C" "r.(=)" "p.(=)" "" "0000251569" "00025546" "10" "300" "177" "300" "177" "c.300+177T>C" "r.(=)" "p.(=)" "" "0000251570" "00020252" "10" "300" "7" "300" "7" "c.300+7T>C" "r.(=)" "p.(=)" "" "0000251570" "00025546" "10" "300" "7" "300" "7" "c.300+7T>C" "r.(=)" "p.(=)" "" "0000251571" "00020252" "10" "148" "130" "148" "130" "c.148+130T>C" "r.(=)" "p.(=)" "" "0000251571" "00025546" "10" "148" "130" "148" "130" "c.148+130T>C" "r.(=)" "p.(=)" "" "0000252587" "00020252" "90" "544" "0" "544" "0" "c.544T>G" "r.(?)" "p.(Trp182Gly)" "" "0000252587" "00025546" "90" "544" "0" "544" "0" "c.544T>G" "r.(?)" "p.(Trp182Gly)" "" "0000311553" "00020252" "10" "4564" "-4" "4564" "-4" "c.4564-4G>A" "r.spl?" "p.?" "" "0000311553" "00025546" "10" "4564" "-4" "4564" "-4" "c.4564-4G>A" "r.spl?" "p.?" "" "0000314024" "00020252" "10" "1182" "225" "1182" "225" "c.1182+225C>T" "r.(=)" "p.(=)" "" "0000314024" "00025546" "10" "1182" "225" "1182" "225" "c.1182+225C>T" "r.(=)" "p.(=)" "" "0000314026" "00020252" "10" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(Leu423=)" "" "0000314026" "00025546" "10" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(Leu423=)" "" "0000314027" "00020252" "10" "1316" "0" "1316" "0" "c.1316G>A" "r.(?)" "p.(Ser439Asn)" "" "0000314027" "00025546" "10" "1316" "0" "1316" "0" "c.1316G>A" "r.(?)" "p.(Ser439Asn)" "" "0000314028" "00020252" "10" "1341" "101" "1341" "101" "c.1341+101C>T" "r.(=)" "p.(=)" "" "0000314028" "00025546" "10" "1341" "101" "1341" "101" "c.1341+101C>T" "r.(=)" "p.(=)" "" "0000314029" "00020252" "10" "1342" "-68" "1342" "-68" "c.1342-68G>T" "r.(=)" "p.(=)" "" "0000314029" "00025546" "10" "1342" "-68" "1342" "-68" "c.1342-68G>T" "r.(=)" "p.(=)" "" "0000314030" "00020252" "10" "148" "131" "148" "131" "c.148+131C>T" "r.(=)" "p.(=)" "" "0000314030" "00025546" "10" "148" "131" "148" "131" "c.148+131C>T" "r.(=)" "p.(=)" "" "0000314031" "00020252" "30" "148" "56" "148" "56" "c.148+56G>A" "r.(=)" "p.(=)" "" "0000314031" "00025546" "30" "148" "56" "148" "56" "c.148+56G>A" "r.(=)" "p.(=)" "" "0000314032" "00020252" "10" "1645" "-68" "1645" "-68" "c.1645-68G>T" "r.(=)" "p.(=)" "" "0000314032" "00025546" "10" "1645" "-68" "1645" "-68" "c.1645-68G>T" "r.(=)" "p.(=)" "" "0000314033" "00020252" "90" "1714" "0" "1723" "0" "c.1714_1723del" "r.(?)" "p.(Met573ThrfsTer9)" "" "0000314033" "00025546" "90" "1714" "0" "1723" "0" "c.1714_1723del" "r.(?)" "p.(Met573ThrfsTer9)" "" "0000314034" "00020252" "10" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(Thr59=)" "" "0000314034" "00025546" "10" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(Thr59=)" "" "0000314035" "00020252" "10" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Ser613Ile)" "" "0000314035" "00025546" "10" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Ser613Ile)" "" "0000314036" "00020252" "90" "2137" "0" "2137" "0" "c.2137C>T" "r.(?)" "p.(Gln713Ter)" "" "0000314036" "00025546" "90" "2137" "0" "2137" "0" "c.2137C>T" "r.(?)" "p.(Gln713Ter)" "" "0000314037" "00020252" "10" "2154" "0" "2154" "0" "c.2154A>C" "r.(?)" "p.(Ile718=)" "" "0000314037" "00025546" "10" "2154" "0" "2154" "0" "c.2154A>C" "r.(?)" "p.(Ile718=)" "" "0000314038" "00020252" "10" "2562" "0" "2562" "0" "c.2562C>T" "r.(?)" "p.(Phe854=)" "" "0000314038" "00025546" "10" "2562" "0" "2562" "0" "c.2562C>T" "r.(?)" "p.(Phe854=)" "" "0000314039" "00020252" "10" "2666" "94" "2666" "94" "c.2666+94G>T" "r.(=)" "p.(=)" "" "0000314039" "00025546" "10" "2666" "94" "2666" "94" "c.2666+94G>T" "r.(=)" "p.(=)" "" "0000314040" "00020252" "10" "2667" "-70" "2667" "-70" "c.2667-70G>C" "r.(=)" "p.(=)" "" "0000314040" "00025546" "10" "2667" "-70" "2667" "-70" "c.2667-70G>C" "r.(=)" "p.(=)" "" "0000314041" "00020252" "30" "2805" "-22" "2805" "-22" "c.2805-22G>A" "r.(=)" "p.(=)" "" "0000314041" "00025546" "30" "2805" "-22" "2805" "-22" "c.2805-22G>A" "r.(=)" "p.(=)" "" "0000314042" "00020252" "10" "2934" "0" "2934" "0" "c.2934G>A" "r.(?)" "p.(Glu978=)" "" "0000314042" "00025546" "10" "2934" "0" "2934" "0" "c.2934G>A" "r.(?)" "p.(Glu978=)" "" "0000314043" "00020252" "10" "300" "140" "300" "140" "c.300+140G>A" "r.(=)" "p.(=)" "" "0000314043" "00025546" "10" "300" "140" "300" "140" "c.300+140G>A" "r.(=)" "p.(=)" "" "0000314044" "00020252" "10" "300" "23" "300" "23" "c.300+23C>T" "r.(=)" "p.(=)" "" "0000314044" "00025546" "10" "300" "23" "300" "23" "c.300+23C>T" "r.(=)" "p.(=)" "" "0000314045" "00020252" "10" "300" "57" "300" "57" "c.300+57G>T" "r.(=)" "p.(=)" "" "0000314045" "00025546" "10" "300" "57" "300" "57" "c.300+57G>T" "r.(=)" "p.(=)" "" "0000314046" "00020252" "10" "301" "-18" "301" "-18" "c.301-18G>A" "r.(=)" "p.(=)" "" "0000314046" "00025546" "10" "301" "-18" "301" "-18" "c.301-18G>A" "r.(=)" "p.(=)" "" "0000314047" "00020252" "90" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Trp1150Ter)" "" "0000314047" "00025546" "90" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Trp1150Ter)" "" "0000314048" "00020252" "10" "3451" "0" "3451" "0" "c.3451A>G" "r.(?)" "p.(Asn1151Asp)" "" "0000314048" "00025546" "10" "3451" "0" "3451" "0" "c.3451A>G" "r.(?)" "p.(Asn1151Asp)" "" "0000314049" "00020252" "10" "3562" "-179" "3562" "-179" "c.3562-179G>A" "r.(=)" "p.(=)" "" "0000314049" "00025546" "10" "3562" "-179" "3562" "-179" "c.3562-179G>A" "r.(=)" "p.(=)" "" "0000314050" "00020252" "10" "3562" "-63" "3562" "-63" "c.3562-63G>T" "r.(=)" "p.(=)" "" "0000314050" "00025546" "10" "3562" "-63" "3562" "-63" "c.3562-63G>T" "r.(=)" "p.(=)" "" "0000314051" "00020252" "30" "3562" "-64" "3562" "-64" "c.3562-64G>T" "r.(=)" "p.(=)" "" "0000314051" "00025546" "30" "3562" "-64" "3562" "-64" "c.3562-64G>T" "r.(=)" "p.(=)" "" "0000314052" "00020252" "10" "3764" "24" "3764" "24" "c.3764+24G>A" "r.(=)" "p.(=)" "" "0000314052" "00025546" "10" "3764" "24" "3764" "24" "c.3764+24G>A" "r.(=)" "p.(=)" "" "0000314053" "00020252" "10" "3855" "140" "3855" "140" "c.3855+140A>G" "r.(=)" "p.(=)" "" "0000314053" "00025546" "10" "3855" "140" "3855" "140" "c.3855+140A>G" "r.(=)" "p.(=)" "" "0000314054" "00020252" "10" "3855" "160" "3855" "160" "c.3855+160C>A" "r.(=)" "p.(=)" "" "0000314054" "00025546" "10" "3855" "160" "3855" "160" "c.3855+160C>A" "r.(=)" "p.(=)" "" "0000314055" "00020252" "10" "3855" "184" "3855" "185" "c.3855+184_3855+185del" "r.(=)" "p.(=)" "" "0000314055" "00025546" "10" "3855" "184" "3855" "185" "c.3855+184_3855+185del" "r.(=)" "p.(=)" "" "0000314057" "00020252" "10" "3855" "67" "3855" "67" "c.3855+67G>A" "r.(=)" "p.(=)" "" "0000314057" "00025546" "10" "3855" "67" "3855" "67" "c.3855+67G>A" "r.(=)" "p.(=)" "" "0000314058" "00020252" "10" "3856" "-120" "3856" "-119" "c.3856-120_3856-119del" "r.(=)" "p.(=)" "" "0000314058" "00025546" "10" "3856" "-120" "3856" "-119" "c.3856-120_3856-119del" "r.(=)" "p.(=)" "" "0000314059" "00020252" "10" "4002" "137" "4002" "137" "c.4002+137G>A" "r.(=)" "p.(=)" "" "0000314059" "00025546" "10" "4002" "137" "4002" "137" "c.4002+137G>A" "r.(=)" "p.(=)" "" "0000314060" "00020252" "10" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(His136=)" "" "0000314060" "00025546" "10" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(His136=)" "" "0000314061" "00020252" "10" "4121" "0" "4121" "0" "c.4121A>G" "r.(?)" "p.(His1374Arg)" "" "0000314061" "00025546" "10" "4121" "0" "4121" "0" "c.4121A>G" "r.(?)" "p.(His1374Arg)" "" "0000314062" "00020252" "10" "4208" "0" "4208" "0" "c.4208G>A" "r.(?)" "p.(Arg1403Gln)" "" "0000314062" "00025546" "10" "4208" "0" "4208" "0" "c.4208G>A" "r.(?)" "p.(Arg1403Gln)" "" "0000314063" "00020252" "10" "4293" "0" "4293" "0" "c.4293A>G" "r.(?)" "p.(Arg1431=)" "" "0000314063" "00025546" "10" "4293" "0" "4293" "0" "c.4293A>G" "r.(?)" "p.(Arg1431=)" "" "0000314064" "00020252" "10" "4474" "-42" "4474" "-42" "c.4474-42C>T" "r.(=)" "p.(=)" "" "0000314064" "00025546" "10" "4474" "-42" "4474" "-42" "c.4474-42C>T" "r.(=)" "p.(=)" "" "0000314065" "00020252" "10" "4474" "-76" "4474" "-76" "c.4474-76C>T" "r.(=)" "p.(=)" "" "0000314065" "00025546" "10" "4474" "-76" "4474" "-76" "c.4474-76C>T" "r.(=)" "p.(=)" "" "0000314066" "00020252" "10" "4563" "12" "4563" "12" "c.4563+12G>C" "r.(=)" "p.(=)" "" "0000314066" "00025546" "10" "4563" "12" "4563" "12" "c.4563+12G>C" "r.(=)" "p.(=)" "" "0000314067" "00020252" "10" "4564" "-4" "4564" "-4" "c.4564-4G>A" "r.spl?" "p.?" "" "0000314067" "00025546" "10" "4564" "-4" "4564" "-4" "c.4564-4G>A" "r.spl?" "p.?" "" "0000314068" "00020252" "10" "4618" "0" "4618" "0" "c.4618A>C" "r.(?)" "p.(Arg1540=)" "" "0000314068" "00025546" "10" "4618" "0" "4618" "0" "c.4618A>C" "r.(?)" "p.(Arg1540=)" "" "0000314069" "00020252" "10" "4641" "0" "4641" "0" "c.4641G>A" "r.(?)" "p.(Ala1547=)" "" "0000314069" "00025546" "10" "4641" "0" "4641" "0" "c.4641G>A" "r.(?)" "p.(Ala1547=)" "" "0000314070" "00020252" "10" "474" "110" "474" "110" "c.474+110del" "r.(=)" "p.(=)" "" "0000314070" "00025546" "10" "474" "110" "474" "110" "c.474+110del" "r.(=)" "p.(=)" "" "0000314071" "00020252" "10" "474" "53" "474" "53" "c.474+53G>T" "r.(=)" "p.(=)" "" "0000314071" "00025546" "10" "474" "53" "474" "53" "c.474+53G>T" "r.(=)" "p.(=)" "" "0000314072" "00020252" "10" "4752" "0" "4752" "0" "c.4752C>T" "r.(?)" "p.(Asn1584=)" "" "0000314072" "00025546" "10" "4752" "0" "4752" "0" "c.4752C>T" "r.(?)" "p.(Asn1584=)" "" "0000314073" "00020252" "10" "4779" "0" "4779" "0" "c.4779A>G" "r.(?)" "p.(Ala1593=)" "" "0000314073" "00025546" "10" "4779" "0" "4779" "0" "c.4779A>G" "r.(?)" "p.(Ala1593=)" "" "0000314074" "00020252" "10" "4818" "0" "4818" "0" "c.4818C>T" "r.(?)" "p.(Tyr1606=)" "" "0000314074" "00025546" "10" "4818" "0" "4818" "0" "c.4818C>T" "r.(?)" "p.(Tyr1606=)" "" "0000314075" "00020252" "10" "4973" "166" "4973" "166" "c.4973+166G>A" "r.(=)" "p.(=)" "" "0000314075" "00025546" "10" "4973" "166" "4973" "166" "c.4973+166G>A" "r.(=)" "p.(=)" "" "0000314076" "00020252" "10" "4973" "181" "4973" "181" "c.4973+181G>A" "r.(=)" "p.(=)" "" "0000314076" "00025546" "10" "4973" "181" "4973" "181" "c.4973+181G>A" "r.(=)" "p.(=)" "" "0000314077" "00020252" "10" "4974" "-118" "4974" "-118" "c.4974-118C>T" "r.(=)" "p.(=)" "" "0000314077" "00025546" "10" "4974" "-118" "4974" "-118" "c.4974-118C>T" "r.(=)" "p.(=)" "" "0000314078" "00020252" "10" "5178" "44" "5178" "44" "c.5178+44G>A" "r.(=)" "p.(=)" "" "0000314078" "00025546" "10" "5178" "44" "5178" "44" "c.5178+44G>A" "r.(=)" "p.(=)" "" "0000314079" "00020252" "10" "5178" "61" "5178" "61" "c.5178+61G>A" "r.(=)" "p.(=)" "" "0000314079" "00025546" "10" "5178" "61" "5178" "61" "c.5178+61G>A" "r.(=)" "p.(=)" "" "0000314080" "00020252" "10" "5179" "-100" "5179" "-100" "c.5179-100C>T" "r.(=)" "p.(=)" "" "0000314080" "00025546" "10" "5179" "-100" "5179" "-100" "c.5179-100C>T" "r.(=)" "p.(=)" "" "0000314081" "00020252" "10" "5535" "0" "5535" "0" "c.5535C>T" "r.(?)" "p.(Leu1845=)" "" "0000314081" "00025546" "10" "5535" "0" "5535" "0" "c.5535C>T" "r.(?)" "p.(Leu1845=)" "" "0000314082" "00020252" "10" "5798" "54" "5798" "54" "c.5798+54C>T" "r.(=)" "p.(=)" "" "0000314082" "00025546" "10" "5798" "54" "5798" "54" "c.5798+54C>T" "r.(=)" "p.(=)" "" "0000314083" "00020252" "10" "5799" "-101" "5799" "-101" "c.5799-101C>G" "r.(=)" "p.(=)" "" "0000314083" "00025546" "10" "5799" "-101" "5799" "-101" "c.5799-101C>G" "r.(=)" "p.(=)" "" "0000314084" "00020252" "10" "5799" "-7" "5799" "-7" "c.5799-7C>T" "r.(=)" "p.(=)" "" "0000314084" "00025546" "10" "5799" "-7" "5799" "-7" "c.5799-7C>T" "r.(=)" "p.(=)" "" "0000314085" "00020252" "10" "5799" "-90" "5799" "-90" "c.5799-90G>T" "r.(=)" "p.(=)" "" "0000314085" "00025546" "10" "5799" "-90" "5799" "-90" "c.5799-90G>T" "r.(=)" "p.(=)" "" "0000314086" "00020252" "10" "6022" "43" "6022" "43" "c.6022+43C>T" "r.(=)" "p.(=)" "" "0000314086" "00025546" "10" "6022" "43" "6022" "43" "c.6022+43C>T" "r.(=)" "p.(=)" "" "0000314087" "00020252" "10" "6023" "-8" "6023" "-8" "c.6023-8C>T" "r.(=)" "p.(=)" "" "0000314087" "00025546" "10" "6023" "-8" "6023" "-8" "c.6023-8C>T" "r.(=)" "p.(=)" "" "0000314088" "00020252" "10" "609" "0" "609" "0" "c.609G>A" "r.(?)" "p.(Lys203=)" "" "0000314088" "00025546" "10" "609" "0" "609" "0" "c.609G>A" "r.(?)" "p.(Lys203=)" "" "0000314089" "00020252" "10" "6220" "-16" "6220" "-16" "c.6220-16C>A" "r.(=)" "p.(=)" "" "0000314089" "00025546" "10" "6220" "-16" "6220" "-16" "c.6220-16C>A" "r.(=)" "p.(=)" "" "0000314090" "00020252" "10" "6220" "-30" "6220" "-30" "c.6220-30C>T" "r.(=)" "p.(=)" "" "0000314090" "00025546" "10" "6220" "-30" "6220" "-30" "c.6220-30C>T" "r.(=)" "p.(=)" "" "0000314091" "00020252" "10" "6220" "-78" "6220" "-78" "c.6220-78C>T" "r.(=)" "p.(=)" "" "0000314091" "00025546" "10" "6220" "-78" "6220" "-78" "c.6220-78C>T" "r.(=)" "p.(=)" "" "0000314092" "00020252" "10" "6220" "-99" "6220" "-99" "c.6220-99G>A" "r.(=)" "p.(=)" "" "0000314092" "00025546" "10" "6220" "-99" "6220" "-99" "c.6220-99G>A" "r.(=)" "p.(=)" "" "0000314093" "00020252" "10" "6269" "121" "6269" "121" "c.6269+121C>T" "r.(=)" "p.(=)" "" "0000314093" "00025546" "10" "6269" "121" "6269" "121" "c.6269+121C>T" "r.(=)" "p.(=)" "" "0000314094" "00020252" "10" "6269" "13" "6269" "13" "c.6269+13C>T" "r.(=)" "p.(=)" "" "0000314094" "00025546" "10" "6269" "13" "6269" "13" "c.6269+13C>T" "r.(=)" "p.(=)" "" "0000314095" "00020252" "10" "9431" "0" "9431" "0" "c.*3017G>A" "r.(=)" "p.(=)" "" "0000314095" "00025546" "10" "6345" "3086" "6345" "3086" "c.6345+3086G>A" "r.(=)" "p.(=)" "" "0000314096" "00020252" "10" "9472" "0" "9472" "0" "c.*3058G>A" "r.(=)" "p.(=)" "" "0000314096" "00025546" "10" "6345" "3127" "6345" "3127" "c.6345+3127G>A" "r.(=)" "p.(=)" "" "0000314097" "00020252" "10" "647" "21" "647" "21" "c.647+21G>A" "r.(=)" "p.(=)" "" "0000314097" "00025546" "10" "647" "21" "647" "21" "c.647+21G>A" "r.(=)" "p.(=)" "" "0000314098" "00020252" "10" "647" "68" "647" "68" "c.647+68C>A" "r.(=)" "p.(=)" "" "0000314098" "00025546" "10" "647" "68" "647" "68" "c.647+68C>A" "r.(=)" "p.(=)" "" "0000314099" "00020252" "10" "648" "-113" "648" "-113" "c.648-113C>T" "r.(=)" "p.(=)" "" "0000314099" "00025546" "10" "648" "-113" "648" "-113" "c.648-113C>T" "r.(=)" "p.(=)" "" "0000314100" "00020252" "10" "648" "-49" "648" "-49" "c.648-49G>A" "r.(=)" "p.(=)" "" "0000314100" "00025546" "10" "648" "-49" "648" "-49" "c.648-49G>A" "r.(=)" "p.(=)" "" "0000314101" "00020252" "10" "20690" "0" "20693" "0" "c.*14276_*14279del" "r.(=)" "p.(=)" "" "0000314101" "00025546" "10" "6602" "1156" "6602" "1159" "c.6602+1156_6602+1159del" "r.(=)" "p.(=)" "" "0000314102" "00020252" "10" "19672" "0" "19672" "0" "c.*13258C>T" "r.(=)" "p.(=)" "" "0000314102" "00025546" "10" "6602" "138" "6602" "138" "c.6602+138C>T" "r.(=)" "p.(=)" "" "0000314103" "00020252" "10" "22828" "0" "22828" "0" "c.*16414G>T" "r.(=)" "p.(=)" "" "0000314103" "00025546" "10" "6603" "-89" "6603" "-89" "c.6603-89G>T" "r.(=)" "p.(=)" "" "0000314104" "00020252" "10" "23669" "0" "23669" "0" "c.*17255G>A" "r.(=)" "p.(=)" "" "0000314104" "00025546" "10" "6891" "0" "6891" "0" "c.6891G>A" "r.(?)" "p.(Ala2297=)" "" "0000314105" "00020252" "10" "764" "-24" "764" "-24" "c.764-24dup" "r.(=)" "p.(=)" "" "0000314105" "00025546" "10" "764" "-24" "764" "-24" "c.764-24dup" "r.(=)" "p.(=)" "" "0000314106" "00020252" "10" "876" "5" "876" "5" "c.876+5A>G" "r.spl?" "p.?" "" "0000314106" "00025546" "10" "876" "5" "876" "5" "c.876+5A>G" "r.spl?" "p.?" "" "0000314107" "00020252" "10" "996" "0" "996" "0" "c.996C>T" "r.(?)" "p.(Asn332=)" "" "0000314107" "00025546" "10" "996" "0" "996" "0" "c.996C>T" "r.(?)" "p.(Asn332=)" "" "0000315652" "00020252" "30" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Glu596Lys)" "" "0000315652" "00025546" "30" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Glu596Lys)" "" "0000315653" "00020252" "30" "4618" "0" "4618" "0" "c.4618A>C" "r.(?)" "p.(Arg1540=)" "" "0000315653" "00025546" "30" "4618" "0" "4618" "0" "c.4618A>C" "r.(?)" "p.(Arg1540=)" "" "0000552830" "00020252" "30" "6270" "-8" "6270" "-6" "c.6270-8_6270-6dup" "r.(=)" "p.(=)" "" "0000552830" "00025546" "30" "6270" "-8" "6270" "-6" "c.6270-8_6270-6dup" "r.(=)" "p.(=)" "" "0000552831" "00020252" "50" "5855" "0" "5855" "0" "c.5855T>C" "r.(?)" "p.(Ile1952Thr)" "" "0000552831" "00025546" "50" "5855" "0" "5855" "0" "c.5855T>C" "r.(?)" "p.(Ile1952Thr)" "" "0000552832" "00020252" "30" "5651" "0" "5651" "0" "c.5651C>T" "r.(?)" "p.(Ala1884Val)" "" "0000552832" "00025546" "30" "5651" "0" "5651" "0" "c.5651C>T" "r.(?)" "p.(Ala1884Val)" "" "0000552833" "00020252" "50" "5467" "0" "5467" "0" "c.5467G>A" "r.(?)" "p.(Asp1823Asn)" "" "0000552833" "00025546" "50" "5467" "0" "5467" "0" "c.5467G>A" "r.(?)" "p.(Asp1823Asn)" "" "0000552834" "00020252" "90" "5114" "0" "5114" "0" "c.5114G>A" "r.(?)" "p.(Trp1705Ter)" "" "0000552834" "00025546" "90" "5114" "0" "5114" "0" "c.5114G>A" "r.(?)" "p.(Trp1705Ter)" "" "0000552835" "00020252" "10" "4482" "0" "4482" "0" "c.4482G>A" "r.(?)" "p.(Val1494=)" "" "0000552835" "00025546" "10" "4482" "0" "4482" "0" "c.4482G>A" "r.(?)" "p.(Val1494=)" "" "0000552836" "00020252" "10" "4473" "216" "4473" "216" "c.4473+216G>T" "r.(=)" "p.(=)" "" "0000552836" "00025546" "10" "4473" "216" "4473" "216" "c.4473+216G>T" "r.(=)" "p.(=)" "" "0000552837" "00020252" "10" "4222" "0" "4222" "0" "c.4222G>C" "r.(?)" "p.(Gly1408Arg)" "" "0000552837" "00025546" "10" "4222" "0" "4222" "0" "c.4222G>C" "r.(?)" "p.(Gly1408Arg)" "" "0000552838" "00020252" "10" "2666" "134" "2666" "134" "c.2666+134C>A" "r.(=)" "p.(=)" "" "0000552838" "00025546" "10" "2666" "134" "2666" "134" "c.2666+134C>A" "r.(=)" "p.(=)" "" "0000552839" "00020252" "50" "2480" "0" "2480" "0" "c.2480G>A" "r.(?)" "p.(Arg827Gln)" "" "0000552839" "00025546" "50" "2480" "0" "2480" "0" "c.2480G>A" "r.(?)" "p.(Arg827Gln)" "" "0000552840" "00020252" "10" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Ala589Thr)" "" "0000552840" "00025546" "10" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Ala589Thr)" "" "0000552841" "00020252" "10" "1183" "-158" "1183" "-158" "c.1183-158dup" "r.(=)" "p.(=)" "" "0000552841" "00025546" "10" "1183" "-158" "1183" "-158" "c.1183-158dup" "r.(=)" "p.(=)" "" "0000552842" "00020252" "10" "300" "24" "300" "24" "c.300+24G>A" "r.(=)" "p.(=)" "" "0000552842" "00025546" "10" "300" "24" "300" "24" "c.300+24G>A" "r.(=)" "p.(=)" "" "0000615045" "00020252" "30" "2136" "0" "2136" "0" "c.2136G>A" "r.(?)" "p.(Pro712=)" "" "0000615045" "00025546" "30" "2136" "0" "2136" "0" "c.2136G>A" "r.(?)" "p.(Pro712=)" "" "0000648943" "00020252" "90" "6157" "0" "6157" "0" "c.6157G>C" "r.(?)" "p.(Ala2053Pro)" "" "0000648943" "00025546" "90" "6157" "0" "6157" "0" "c.6157G>C" "r.(?)" "p.(Ala2053Pro)" "" "0000648944" "00020252" "50" "5855" "0" "5855" "0" "c.5855T>C" "r.(?)" "p.(Ile1952Thr)" "" "0000648944" "00025546" "50" "5855" "0" "5855" "0" "c.5855T>C" "r.(?)" "p.(Ile1952Thr)" "" "0000648945" "00020252" "30" "4818" "0" "4818" "0" "c.4818C>T" "r.(=)" "p.(=)" "" "0000648945" "00025546" "30" "4818" "0" "4818" "0" "c.4818C>T" "r.(=)" "p.(=)" "" "0000648946" "00020252" "50" "4075" "0" "4075" "0" "c.4075C>T" "r.(?)" "p.(Arg1359Trp)" "" "0000648946" "00025546" "50" "4075" "0" "4075" "0" "c.4075C>T" "r.(?)" "p.(Arg1359Trp)" "" "0000648947" "00020252" "30" "2934" "0" "2934" "0" "c.2934G>A" "r.(=)" "p.(=)" "" "0000648947" "00025546" "30" "2934" "0" "2934" "0" "c.2934G>A" "r.(=)" "p.(=)" "" "0000648948" "00020252" "30" "2060" "0" "2060" "0" "c.2060G>A" "r.(?)" "p.(Arg687His)" "" "0000648948" "00025546" "30" "2060" "0" "2060" "0" "c.2060G>A" "r.(?)" "p.(Arg687His)" "" "0000648949" "00020252" "30" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Ser613Ile)" "" "0000648949" "00025546" "30" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Ser613Ile)" "" "0000657463" "00020252" "30" "19415" "0" "19415" "0" "c.*13001C>T" "r.(=)" "p.(=)" "" "0000657463" "00025546" "30" "6483" "0" "6483" "0" "c.6483C>T" "r.(?)" "p.(Ser2161=)" "" "0000657464" "00020252" "50" "19405" "0" "19405" "0" "c.*12991C>T" "r.(=)" "p.(=)" "" "0000657464" "00025546" "50" "6473" "0" "6473" "0" "c.6473C>T" "r.(?)" "p.(Thr2158Met)" "" "0000657466" "00020252" "30" "1623" "0" "1623" "0" "c.1623C>T" "r.(?)" "p.(Ile541=)" "" "0000657466" "00025546" "30" "1623" "0" "1623" "0" "c.1623C>T" "r.(?)" "p.(Ile541=)" "" "0000667938" "00020252" "30" "5050" "0" "5050" "0" "c.5050C>T" "r.(?)" "p.(Arg1684Cys)" "25" "0000669256" "00020252" "30" "4818" "0" "4818" "0" "c.4818C>T" "r.(=)" "p.(=)" "" "0000669256" "00025546" "30" "4818" "0" "4818" "0" "c.4818C>T" "r.(=)" "p.(=)" "" "0000680006" "00020252" "30" "19537" "0" "19537" "0" "c.*13123G>A" "r.(=)" "p.(=)" "" "0000680006" "00025546" "30" "6602" "3" "6602" "3" "c.6602+3G>A" "r.spl?" "p.?" "" "0000680007" "00020252" "30" "19447" "0" "19447" "0" "c.*13033C>T" "r.(=)" "p.(=)" "" "0000680007" "00025546" "30" "6515" "0" "6515" "0" "c.6515C>T" "r.(?)" "p.(Pro2172Leu)" "" "0000680008" "00020252" "90" "6234" "0" "6234" "0" "c.6234del" "r.(?)" "p.(Glu2078AspfsTer95)" "" "0000680008" "00025546" "90" "6234" "0" "6234" "0" "c.6234del" "r.(?)" "p.(Glu2078AspfsTer79)" "" "0000680009" "00020252" "30" "5651" "0" "5651" "0" "c.5651C>T" "r.(?)" "p.(Ala1884Val)" "" "0000680009" "00025546" "30" "5651" "0" "5651" "0" "c.5651C>T" "r.(?)" "p.(Ala1884Val)" "" "0000680010" "00020252" "30" "1773" "0" "1773" "0" "c.1773C>G" "r.(?)" "p.(Thr591=)" "" "0000680010" "00025546" "30" "1773" "0" "1773" "0" "c.1773C>G" "r.(?)" "p.(Thr591=)" "" "0000680011" "00020252" "30" "1740" "0" "1740" "0" "c.1740A>G" "r.(?)" "p.(Gln580=)" "" "0000680011" "00025546" "30" "1740" "0" "1740" "0" "c.1740A>G" "r.(?)" "p.(Gln580=)" "" "0000684791" "00020252" "30" "4208" "0" "4208" "0" "c.4208G>A" "r.(?)" "p.(Arg1403Gln)" "" "0000684791" "00025546" "30" "4208" "0" "4208" "0" "c.4208G>A" "r.(?)" "p.(Arg1403Gln)" "" "0000687287" "00025546" "70" "1064" "1" "1064" "1" "c.1064+1G>A" "r.877_1064del" "p.Ile294Serlfs*35" "8" "0000724838" "00020252" "30" "19307" "0" "19307" "0" "c.*12893C>A" "r.(=)" "p.(=)" "" "0000724838" "00025546" "30" "6375" "0" "6375" "0" "c.6375C>A" "r.(?)" "p.(Asn2125Lys)" "" "0000724839" "00020252" "30" "5750" "0" "5750" "0" "c.5750C>T" "r.(?)" "p.(Ser1917Phe)" "" "0000724839" "00025546" "30" "5750" "0" "5750" "0" "c.5750C>T" "r.(?)" "p.(Ser1917Phe)" "" "0000724840" "00020252" "50" "1064" "0" "1064" "0" "c.1064A>C" "r.(?)" "p.(Lys355Thr)" "" "0000724840" "00025546" "50" "1064" "0" "1064" "0" "c.1064A>C" "r.(?)" "p.(Lys355Thr)" "" "0000724841" "00020252" "90" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Trp202*)" "" "0000724841" "00025546" "90" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Trp202*)" "" "0000806458" "00020252" "30" "6174" "0" "6174" "0" "c.6174G>A" "r.(?)" "p.(Thr2058=)" "" "0000806458" "00025546" "30" "6174" "0" "6174" "0" "c.6174G>A" "r.(?)" "p.(Thr2058=)" "" "0000806459" "00020252" "50" "5452" "0" "5452" "0" "c.5452C>T" "r.(?)" "p.(Arg1818Cys)" "" "0000806459" "00025546" "50" "5452" "0" "5452" "0" "c.5452C>T" "r.(?)" "p.(Arg1818Cys)" "" "0000806460" "00020252" "50" "5311" "0" "5311" "0" "c.5311T>C" "r.(?)" "p.(Trp1771Arg)" "" "0000806460" "00025546" "50" "5311" "0" "5311" "0" "c.5311T>C" "r.(?)" "p.(Trp1771Arg)" "" "0000806461" "00020252" "30" "4908" "0" "4908" "0" "c.4908C>T" "r.(?)" "p.(Tyr1636=)" "" "0000806461" "00025546" "30" "4908" "0" "4908" "0" "c.4908C>T" "r.(?)" "p.(Tyr1636=)" "" "0000806462" "00020252" "90" "3970" "0" "3986" "0" "c.3970_3986del" "r.(?)" "p.(Ser1324Argfs*13)" "" "0000806462" "00025546" "90" "3970" "0" "3986" "0" "c.3970_3986del" "r.(?)" "p.(Ser1324Argfs*13)" "" "0000806463" "00020252" "30" "1293" "0" "1293" "0" "c.1293C>T" "r.(?)" "p.(Ala431=)" "" "0000806463" "00025546" "30" "1293" "0" "1293" "0" "c.1293C>T" "r.(?)" "p.(Ala431=)" "" "0000806464" "00020252" "30" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(His232=)" "" "0000806464" "00025546" "30" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(His232=)" "" "0000816213" "00025546" "50" "2243" "0" "2243" "0" "c.2243C>T" "r.(?)" "p.(Ser748Leu)" "" "0000853866" "00020252" "30" "3334" "0" "3334" "0" "c.3334G>A" "r.(?)" "p.(Gly1112Arg)" "" "0000853866" "00025546" "30" "3334" "0" "3334" "0" "c.3334G>A" "r.(?)" "p.(Gly1112Arg)" "" "0000853867" "00020252" "50" "3103" "0" "3103" "0" "c.3103C>T" "r.(?)" "p.(Arg1035Trp)" "" "0000853867" "00025546" "50" "3103" "0" "3103" "0" "c.3103C>T" "r.(?)" "p.(Arg1035Trp)" "" "0000863619" "00020252" "50" "2758" "0" "2758" "0" "c.2758C>A" "r.(?)" "p.(Pro920Thr)" "" "0000863619" "00025546" "50" "2758" "0" "2758" "0" "c.2758C>A" "r.(?)" "p.(Pro920Thr)" "" "0000863620" "00020252" "50" "1303" "0" "1303" "0" "c.1303G>C" "r.(?)" "p.(Glu435Gln)" "" "0000863620" "00025546" "50" "1303" "0" "1303" "0" "c.1303G>C" "r.(?)" "p.(Glu435Gln)" "" "0000891846" "00020252" "90" "3916" "0" "3916" "0" "c.3916C>T" "r.(?)" "p.(Arg1306*)" "" "0000891846" "00025546" "90" "3916" "0" "3916" "0" "c.3916C>T" "r.(?)" "p.(Arg1306*)" "" "0000891847" "00020252" "50" "3479" "0" "3479" "0" "c.3479G>A" "r.(?)" "p.(Arg1160His)" "" "0000891847" "00025546" "50" "3479" "0" "3479" "0" "c.3479G>A" "r.(?)" "p.(Arg1160His)" "" "0000891848" "00020252" "90" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Arg638*)" "" "0000891848" "00025546" "90" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Arg638*)" "" "0000891849" "00020252" "90" "1508" "0" "1508" "0" "c.1508del" "r.(?)" "p.(Lys503Argfs*70)" "" "0000891849" "00025546" "90" "1508" "0" "1508" "0" "c.1508del" "r.(?)" "p.(Lys503Argfs*70)" "" "0000891850" "00020252" "30" "204" "0" "204" "0" "c.204G>A" "r.(?)" "p.(=)" "" "0000891850" "00025546" "30" "204" "0" "204" "0" "c.204G>A" "r.(?)" "p.(Leu68=)" "" "0000914209" "00020252" "90" "2562" "0" "2563" "0" "c.2562_2563insCTGTACAC" "r.(?)" "p.(Gly855Leufs*46)" "" "0000914209" "00025546" "90" "2562" "0" "2563" "0" "c.2562_2563insCTGTACAC" "r.(?)" "p.(Gly855Leufs*46)" "" "0000925899" "00020252" "30" "19447" "0" "19447" "0" "c.*13033C>T" "r.(=)" "p.(=)" "" "0000925899" "00025546" "30" "6515" "0" "6515" "0" "c.6515C>T" "r.(?)" "p.(Pro2172Leu)" "" "0000925900" "00020252" "30" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Ile322Val)" "" "0000925900" "00025546" "30" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Ile322Val)" "" "0000930320" "00020252" "90" "4026" "0" "4026" "0" "c.4026del" "r.(?)" "p.(Lys1343Serfs*69)" "" "0000930320" "00025546" "90" "4026" "0" "4026" "0" "c.4026del" "r.(?)" "p.(Lys1343Serfs*69)" "" "0000931475" "00025546" "50" "3764" "42" "3764" "42" "c.3764+42C>T" "r.(?)" "p.(?)" "" "0000931589" "00025546" "90" "4973" "5" "4973" "5" "c.4973+5G>A" "r.(?)" "p.(?)" "" "0000952427" "00025546" "90" "2967" "0" "2967" "0" "c.2967dup" "r.(?)" "p.(Ile990TyrfsTer14)" "" "0000967518" "00020252" "30" "6174" "0" "6174" "0" "c.6174G>A" "r.(?)" "p.(Thr2058=)" "" "0000967518" "00025546" "30" "6174" "0" "6174" "0" "c.6174G>A" "r.(?)" "p.(Thr2058=)" "" "0000967520" "00020252" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(=)" "" "0000967520" "00025546" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(=)" "" "0000980959" "00020252" "50" "23643" "0" "23643" "0" "c.*17229G>A" "r.(=)" "p.(=)" "" "0000980959" "00025546" "50" "6865" "0" "6865" "0" "c.6865G>A" "r.(?)" "p.(Glu2289Lys)" "" "0000980960" "00020252" "50" "2387" "0" "2387" "0" "c.2387G>A" "r.(?)" "p.(Arg796His)" "" "0000980960" "00025546" "50" "2387" "0" "2387" "0" "c.2387G>A" "r.(?)" "p.(Arg796His)" "" "0000980961" "00020252" "50" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Met)" "" "0000980961" "00025546" "50" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Met)" "" "0001001083" "00020252" "30" "23661" "0" "23661" "0" "c.*17247G>A" "r.(=)" "p.(=)" "" "0001001083" "00025546" "30" "6883" "0" "6883" "0" "c.6883G>A" "r.(?)" "p.(Val2295Ile)" "" "0001001084" "00020252" "30" "23101" "0" "23101" "0" "c.*16687C>T" "r.(=)" "p.(=)" "" "0001001084" "00025546" "30" "6776" "11" "6776" "11" "c.6776+11C>T" "r.(=)" "p.(=)" "" "0001001085" "00020252" "50" "19435" "0" "19435" "0" "c.*13021C>T" "r.(=)" "p.(=)" "" "0001001085" "00025546" "50" "6503" "0" "6503" "0" "c.6503C>T" "r.(?)" "p.(Thr2168Met)" "" "0001001086" "00020252" "30" "6256" "0" "6256" "0" "c.6256G>A" "r.(?)" "p.(Ala2086Thr)" "" "0001001086" "00025546" "30" "6256" "0" "6256" "0" "c.6256G>A" "r.(?)" "p.(Ala2086Thr)" "" "0001001087" "00020252" "30" "5770" "0" "5770" "0" "c.5770C>T" "r.(?)" "p.(Arg1924Trp)" "" "0001001087" "00025546" "30" "5770" "0" "5770" "0" "c.5770C>T" "r.(?)" "p.(Arg1924Trp)" "" "0001001088" "00020252" "30" "5528" "0" "5528" "0" "c.5528G>A" "r.(?)" "p.(Arg1843Gln)" "" "0001001088" "00025546" "30" "5528" "0" "5528" "0" "c.5528G>A" "r.(?)" "p.(Arg1843Gln)" "" "0001001089" "00020252" "50" "5185" "0" "5185" "0" "c.5185C>T" "r.(?)" "p.(Arg1729Trp)" "" "0001001089" "00025546" "50" "5185" "0" "5185" "0" "c.5185C>T" "r.(?)" "p.(Arg1729Trp)" "" "0001001090" "00020252" "50" "3917" "0" "3917" "0" "c.3917G>A" "r.(?)" "p.(Arg1306Gln)" "" "0001001090" "00025546" "50" "3917" "0" "3917" "0" "c.3917G>A" "r.(?)" "p.(Arg1306Gln)" "" "0001001091" "00020252" "50" "3479" "0" "3479" "0" "c.3479G>A" "r.(?)" "p.(Arg1160His)" "" "0001001091" "00025546" "50" "3479" "0" "3479" "0" "c.3479G>A" "r.(?)" "p.(Arg1160His)" "" "0001001092" "00020252" "30" "3103" "0" "3103" "0" "c.3103C>T" "r.(?)" "p.(Arg1035Trp)" "" "0001001092" "00025546" "30" "3103" "0" "3103" "0" "c.3103C>T" "r.(?)" "p.(Arg1035Trp)" "" "0001001093" "00020252" "50" "2464" "0" "2464" "0" "c.2464C>T" "r.(?)" "p.(Arg822Trp)" "" "0001001093" "00025546" "50" "2464" "0" "2464" "0" "c.2464C>T" "r.(?)" "p.(Arg822Trp)" "" "0001001094" "00020252" "50" "1606" "0" "1606" "0" "c.1606G>A" "r.(?)" "p.(Asp536Asn)" "" "0001001094" "00025546" "50" "1606" "0" "1606" "0" "c.1606G>A" "r.(?)" "p.(Asp536Asn)" "" "0001001095" "00020252" "70" "1179" "0" "1182" "17" "c.1179_1182+17del" "r.(?)" "p.(Leu388_Arg394del)" "" "0001001095" "00025546" "70" "1179" "0" "1182" "17" "c.1179_1182+17del" "r.(?)" "p.(Leu388_Arg394del)" "" "0001001096" "00020252" "50" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Ile322Val)" "" "0001001096" "00025546" "50" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Ile322Val)" "" "0001001097" "00020252" "50" "580" "0" "580" "0" "c.580A>T" "r.(?)" "p.(Asn194Tyr)" "" "0001001097" "00025546" "50" "580" "0" "580" "0" "c.580A>T" "r.(?)" "p.(Asn194Tyr)" "" "0001026395" "00020252" "90" "5204" "0" "5205" "0" "c.5204_5205del" "r.(?)" "p.(Phe1735Cysfs*52)" "" "0001026395" "00025546" "90" "5204" "0" "5205" "0" "c.5204_5205del" "r.(?)" "p.(Phe1735Cysfs*52)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000292254" "0000648943" "0000292255" "0000648944" "0000292256" "0000648945" "0000292257" "0000648946" "0000292258" "0000648947" "0000292259" "0000648948" "0000292260" "0000648949" "0000304495" "0000667938" "0000305568" "0000669256" "0000309889" "0000684791" "0000311767" "0000687287" "0000388055" "0000816213"