### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SI) # 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}}" "SI" "sucrase-isomaltase (alpha-glucosidase)" "3" "q25.2-q26.2" "no" "NG_017043.1" "UD_132118860335" "" "http://www.LOVD.nl/SI" "" "1" "10856" "6476" "609845" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/SI_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-12-28 15:41:00" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018902" "SI" "sucrase-isomaltase (alpha-glucosidase)" "001" "NM_001041.3" "" "NP_001032.2" "" "" "" "-63" "5948" "5484" "164796283" "164696686" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01755" "CSID" "sucrase-isomaltase deficiency, congenital (CSID)" "AR" "222900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SI" "01755" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00027194" "" "" "" "1" "" "00006" "{PMID:Marcadier 2014:25452324}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Canada" "" "0" "" "" "Inuit" "" "00027195" "" "" "" "128" "" "00006" "{PMID:Marcadier 2014:25452324}" "128 Inuit controls (western (Inuvialuit), central (Kivalliq) and eastern (Nunavik) Canadian High Arctic)" "-" "?" "Canada" "" "0" "" "" "Inuit" "" "00293266" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293267" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00027194" "01755" "00027195" "00198" "00293266" "00198" "00293267" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01755 ## Count = 2 "{{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}}" "0000023266" "01755" "00027194" "00006" "Familial, autosomal recessive" "00y00m05d" "see paper; 5d-decreased alertness, hypotonia, hypothermia, admitted to hospital for hemodynamic and ventilatory support for suspected sepsis; ..." "" "" "" "" "" "" "" "" "" "" "" "0000023267" "00198" "00027195" "00006" "Unknown" "" "phenotype expected to differ significantly influenced by dietary sucrose exposure" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000027200" "00027194" "1" "00006" "00006" "2014-12-28 15:36:13" "" "" "SEQ" "DNA" "" "" "0000027201" "00027195" "1" "00006" "00006" "2014-12-28 15:43:45" "" "" "SEQ" "DNA" "" "" "0000294434" "00293266" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294435" "00293267" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000027200" "SI" "0000027201" "SI" ## 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 = 87 "{{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}}" "0000050345" "3" "90" "3" "164786969" "164786970" "del" "0" "00006" "SI_000001" "g.164786969_164786970del" "" "{PMID:Marcadier 2014:25452324}" "" "273_274delAG" "" "Germline" "yes" "" "0" "" "" "g.165069181_165069182del" "" "pathogenic" "" "0000050346" "3" "90" "3" "164786969" "164786970" "del" "0" "00006" "SI_000001" "g.164786969_164786970del" "2/128 controls" "{PMID:Marcadier 2014:25452324}" "" "273_274delAG" "" "Germline" "" "" "0" "" "" "g.165069181_165069182del" "" "pathogenic" "" "0000050347" "1" "90" "3" "164786969" "164786970" "del" "0" "00006" "SI_000002" "g.164786969_164786970del" "40/128 controls" "{PMID:Marcadier 2014:25452324}" "" "273_274delAG" "" "Germline" "" "" "0" "" "" "g.165069181_165069182del" "" "pathogenic" "" "0000249028" "0" "10" "3" "164786637" "164786637" "del" "0" "02325" "SI_000025" "g.164786637del" "" "" "" "SI(NM_001041.4):c.374-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165068849del" "" "benign" "" "0000254979" "0" "30" "3" "164704930" "164704930" "subst" "0.000154518" "01943" "SI_000005" "g.164704930A>G" "" "" "" "SI(NM_001041.3):c.5193T>C (p.S1731=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.164987142A>G" "" "likely benign" "" "0000256688" "0" "30" "3" "164741534" "164741534" "subst" "0.00420041" "01943" "SI_000012" "g.164741534A>G" "" "" "" "SI(NM_001041.3):c.2923T>C (p.Y975H, p.(Tyr975His)), SI(NM_001041.4):c.2923T>C (p.Y975H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165023746A>G" "" "likely benign" "" "0000298205" "0" "10" "3" "164777677" "164777677" "subst" "0.619589" "02325" "SI_000022" "g.164777677T>G" "" "" "" "SI(NM_001041.4):c.1146+13A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165059889T>G" "" "benign" "" "0000298206" "0" "10" "3" "164773057" "164773057" "subst" "0.619758" "02325" "SI_000021" "g.164773057G>A" "" "" "" "SI(NM_001041.4):c.1437C>T (p.N479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165055269G>A" "" "benign" "" "0000298207" "0" "10" "3" "164764719" "164764719" "subst" "0.615865" "02325" "SI_000019" "g.164764719C>A" "" "" "" "SI(NM_001041.4):c.1797G>T (p.A599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165046931C>A" "" "benign" "" "0000298208" "0" "10" "3" "164733721" "164733721" "subst" "0.763163" "02325" "SI_000009" "g.164733721G>A" "" "" "" "SI(NM_001041.4):c.3888+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165015933G>A" "" "benign" "" "0000298209" "0" "10" "3" "164793758" "164793758" "subst" "0.248131" "02325" "SI_000027" "g.164793758C>A" "" "" "" "SI(NM_001041.4):c.43G>T (p.V15F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165075970C>A" "" "benign" "" "0000298210" "0" "10" "3" "164714532" "164714532" "subst" "0.908825" "02325" "SI_000008" "g.164714532C>T" "" "" "" "SI(NM_001041.4):c.4569G>A (p.M1523I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.164996744C>T" "" "benign" "" "0000298211" "0" "10" "3" "164783165" "164783165" "subst" "0.619309" "02325" "SI_000024" "g.164783165T>C" "" "" "" "SI(NM_001041.4):c.691A>G (p.T231A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165065377T>C" "" "benign" "" "0000302110" "0" "30" "3" "164748660" "164748660" "subst" "0" "02326" "SI_000014" "g.164748660G>T" "" "" "" "SI(NM_001041.4):c.2737-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165030872G>T" "" "likely benign" "" "0000308117" "0" "50" "3" "164777725" "164777725" "subst" "0.00141944" "01943" "SI_000023" "g.164777725C>T" "" "" "" "SI(NM_001041.3):c.1111G>A (p.V371M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165059937C>T" "" "VUS" "" "0000308118" "0" "50" "3" "164767643" "164767643" "subst" "0" "01943" "SI_000020" "g.164767643G>C" "" "" "" "SI(NM_001041.3):c.1533C>G (p.S511R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165049855G>C" "" "VUS" "" "0000308119" "0" "50" "3" "164764670" "164764670" "subst" "0" "01943" "SI_000018" "g.164764670T>C" "" "" "" "SI(NM_001041.3):c.1846A>G (p.I616V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165046882T>C" "" "VUS" "" "0000308120" "0" "50" "3" "164755794" "164755794" "subst" "0.00097454" "01943" "SI_000017" "g.164755794T>C" "" "" "" "SI(NM_001041.3):c.2320A>G (p.R774G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165038006T>C" "" "VUS" "" "0000308121" "0" "30" "3" "164755719" "164755719" "subst" "0.00230377" "01943" "SI_000016" "g.164755719T>C" "" "" "" "SI(NM_001041.3):c.2395A>G (p.I799V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165037931T>C" "" "likely benign" "" "0000308122" "0" "30" "3" "164748543" "164748543" "subst" "0" "01943" "SI_000013" "g.164748543G>T" "" "" "" "SI(NM_001041.3):c.2849C>A (p.A950E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165030755G>T" "" "likely benign" "" "0000308123" "0" "70" "3" "164739053" "164739053" "subst" "0.00121103" "01943" "SI_000011" "g.164739053C>T" "" "" "" "SI(NM_001041.3):c.3218G>A (p.G1073D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165021265C>T" "" "likely pathogenic" "" "0000308124" "0" "50" "3" "164735625" "164735625" "subst" "4.48646E-5" "01943" "SI_000010" "g.164735625C>T" "" "" "" "SI(NM_001041.3):c.3557G>A (p.R1186H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165017837C>T" "" "VUS" "" "0000308125" "0" "30" "3" "164786884" "164786884" "subst" "7.32315E-5" "01943" "SI_000026" "g.164786884T>A" "" "" "" "SI(NM_001041.3):c.355A>T (p.M119L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165069096T>A" "" "likely benign" "" "0000308126" "0" "50" "3" "164714429" "164714429" "subst" "4.0948E-6" "01943" "SI_000007" "g.164714429T>C" "" "" "" "SI(NM_001041.3):c.4586A>G (p.D1529G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.164996641T>C" "" "VUS" "" "0000308127" "0" "30" "3" "164709997" "164709997" "subst" "0.00124101" "01943" "SI_000006" "g.164709997C>T" "" "" "" "SI(NM_001041.3):c.4951G>A (p.V1651I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.164992209C>T" "" "likely benign" "" "0000308128" "0" "30" "3" "164700145" "164700145" "subst" "0.000994457" "01943" "SI_000004" "g.164700145C>T" "" "" "" "SI(NM_001041.3):c.5301G>A (p.T1767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.164982357C>T" "" "likely benign" "" "0000308129" "0" "30" "3" "164700043" "164700043" "subst" "0.000546791" "01943" "SI_000003" "g.164700043G>A" "" "" "" "SI(NM_001041.3):c.5403C>T (p.D1801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.164982255G>A" "" "likely benign" "" "0000350597" "0" "90" "3" "164764786" "164764786" "subst" "0.00157493" "02327" "SI_000028" "g.164764786A>C" "" "" "" "SI(NM_001041.3):c.1730T>G (p.V577G), SI(NM_001041.4):c.1730T>G (p.V577G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165046998A>C" "" "pathogenic" "" "0000518407" "0" "10" "3" "164714532" "164714532" "subst" "0.908825" "02327" "SI_000008" "g.164714532C>T" "" "" "" "SI(NM_001041.4):c.4569G>A (p.M1523I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.164996744C>T" "" "benign" "" "0000518408" "0" "30" "3" "164714559" "164714559" "subst" "0.000488907" "01943" "SI_000029" "g.164714559A>G" "" "" "" "SI(NM_001041.3):c.4542T>C (p.G1514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.164996771A>G" "" "likely benign" "" "0000518409" "0" "10" "3" "164730804" "164730804" "subst" "0.109098" "02327" "SI_000030" "g.164730804T>C" "" "" "" "SI(NM_001041.4):c.4026A>G (p.T1342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165013016T>C" "" "benign" "" "0000518410" "0" "10" "3" "164730804" "164730804" "subst" "0.109098" "02325" "SI_000030" "g.164730804T>C" "" "" "" "SI(NM_001041.4):c.4026A>G (p.T1342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165013016T>C" "" "benign" "" "0000518411" "0" "10" "3" "164733721" "164733721" "subst" "0.763163" "02327" "SI_000009" "g.164733721G>A" "" "" "" "SI(NM_001041.4):c.3888+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165015933G>A" "" "benign" "" "0000518412" "0" "90" "3" "164739053" "164739053" "subst" "0.00121103" "02327" "SI_000011" "g.164739053C>T" "" "" "" "SI(NM_001041.3):c.3218G>A (p.G1073D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165021265C>T" "" "pathogenic" "" "0000518413" "0" "50" "3" "164748558" "164748558" "subst" "0" "01943" "SI_000031" "g.164748558G>T" "" "" "" "SI(NM_001041.3):c.2834C>A (p.P945Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165030770G>T" "" "VUS" "" "0000518416" "0" "10" "3" "164748678" "164748678" "dup" "0" "02326" "SI_000034" "g.164748678dup" "" "" "" "SI(NM_001041.4):c.2737-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165030890dup" "" "benign" "" "0000518417" "0" "10" "3" "164764719" "164764719" "subst" "0.615865" "02327" "SI_000019" "g.164764719C>A" "" "" "" "SI(NM_001041.4):c.1797G>T (p.A599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165046931C>A" "" "benign" "" "0000518418" "0" "70" "3" "164764736" "164764736" "subst" "4.49321E-5" "02326" "SI_000035" "g.164764736A>G" "" "" "" "SI(NM_001041.4):c.1780T>C (p.S594P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165046948A>G" "" "likely pathogenic" "" "0000518419" "0" "70" "3" "164764786" "164764786" "subst" "0.00157493" "01943" "SI_000028" "g.164764786A>C" "" "" "" "SI(NM_001041.3):c.1730T>G (p.V577G), SI(NM_001041.4):c.1730T>G (p.V577G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165046998A>C" "" "likely pathogenic" "" "0000518420" "0" "10" "3" "164766816" "164766816" "subst" "0" "02326" "SI_000036" "g.164766816C>A" "" "" "" "SI(NM_001041.4):c.1715+99G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165049028C>A" "" "benign" "" "0000518421" "0" "10" "3" "164773057" "164773057" "subst" "0.619758" "02327" "SI_000021" "g.164773057G>A" "" "" "" "SI(NM_001041.4):c.1437C>T (p.N479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165055269G>A" "" "benign" "" "0000518422" "0" "10" "3" "164777677" "164777677" "subst" "0.619589" "02327" "SI_000022" "g.164777677T>G" "" "" "" "SI(NM_001041.4):c.1146+13A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165059889T>G" "" "benign" "" "0000518423" "0" "10" "3" "164793758" "164793758" "subst" "0.248131" "02327" "SI_000027" "g.164793758C>A" "" "" "" "SI(NM_001041.4):c.43G>T (p.V15F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165075970C>A" "" "benign" "" "0000608396" "0" "30" "3" "164733005" "164733005" "subst" "8.9597E-5" "01943" "SI_000037" "g.164733005C>G" "" "" "" "SI(NM_001041.3):c.3905G>C (p.G1302A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165015217C>G" "" "likely benign" "" "0000608397" "0" "30" "3" "164735362" "164735362" "subst" "6.51768E-5" "01943" "SI_000038" "g.164735362C>T" "" "" "" "SI(NM_001041.3):c.3733G>A (p.A1245T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165017574C>T" "" "likely benign" "" "0000608398" "0" "30" "3" "164781312" "164781312" "subst" "0.00104743" "01943" "SI_000040" "g.164781312G>A" "" "" "" "SI(NM_001041.3):c.825C>T (p.Y275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165063524G>A" "" "likely benign" "" "0000608399" "0" "50" "3" "164783203" "164783203" "subst" "4.13664E-5" "01943" "SI_000041" "g.164783203C>A" "" "" "" "SI(NM_001041.3):c.653G>T (p.G218V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165065415C>A" "" "VUS" "" "0000621207" "0" "30" "3" "164735375" "164735375" "subst" "0" "01943" "SI_000039" "g.164735375C>T" "" "" "" "SI(NM_001041.3):c.3720G>A (p.R1240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165017587C>T" "" "likely benign" "" "0000651123" "1" "50" "3" "164741534" "164741534" "subst" "0.00420041" "03575" "SI_000012" "g.164741534A>G" "14/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs146785675}" "Germline" "" "rs146785675" "0" "" "" "g.165023746A>G" "" "VUS" "" "0000651124" "1" "70" "3" "164764786" "164764786" "subst" "0.00157493" "03575" "SI_000028" "g.164764786A>C" "3/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs121912615}" "Germline" "" "rs121912615" "0" "" "" "g.165046998A>C" "" "likely pathogenic" "" "0000654839" "0" "30" "3" "164725726" "164725726" "subst" "0.000203489" "01943" "SI_000042" "g.164725726C>T" "" "" "" "SI(NM_001041.3):c.4240G>A (p.E1414K), SI(NM_001041.4):c.4240G>A (p.E1414K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165007938C>T" "" "likely benign" "" "0000654840" "0" "30" "3" "164730822" "164730822" "subst" "0.000122132" "01943" "SI_000043" "g.164730822T>C" "" "" "" "SI(NM_001041.3):c.4008A>G (p.P1336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165013034T>C" "" "likely benign" "" "0000654841" "0" "30" "3" "164755771" "164755771" "subst" "0.000489169" "01943" "SI_000044" "g.164755771A>G" "" "" "" "SI(NM_001041.3):c.2343T>C (p.Y781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165037983A>G" "" "likely benign" "" "0000654842" "0" "30" "3" "164783116" "164783116" "subst" "4.07448E-6" "01943" "SI_000045" "g.164783116T>C" "" "" "" "SI(NM_001041.3):c.740A>G (p.K247R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165065328T>C" "" "likely benign" "" "0000676870" "0" "50" "3" "164725726" "164725726" "subst" "0.000203489" "02325" "SI_000042" "g.164725726C>T" "" "" "" "SI(NM_001041.3):c.4240G>A (p.E1414K), SI(NM_001041.4):c.4240G>A (p.E1414K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676871" "0" "30" "3" "164735473" "164735473" "dup" "0" "02325" "SI_000046" "g.164735473dup" "" "" "" "SI(NM_001041.4):c.3634-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676872" "0" "50" "3" "164737424" "164737424" "subst" "8.13663E-6" "02325" "SI_000047" "g.164737424G>A" "" "" "" "SI(NM_001041.4):c.3389C>T (p.T1130I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688975" "0" "30" "3" "164748500" "164748500" "subst" "0.00105917" "01943" "SI_000048" "g.164748500C>T" "" "" "" "SI(NM_001041.3):c.2892G>A (p.T964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688976" "0" "50" "3" "164760966" "164760966" "subst" "0" "01943" "SI_000049" "g.164760966A>T" "" "" "" "SI(NM_001041.3):c.1888-3T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719264" "0" "30" "3" "164700083" "164700083" "subst" "9.3707E-5" "01943" "SI_000050" "g.164700083G>A" "" "" "" "SI(NM_001041.3):c.5363C>T (p.T1788M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719265" "0" "30" "3" "164700167" "164700167" "subst" "0.000301738" "01943" "SI_000051" "g.164700167C>A" "" "" "" "SI(NM_001041.3):c.5279G>T (p.G1760V), SI(NM_001041.4):c.5279G>T (p.(Gly1760Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719266" "0" "30" "3" "164709153" "164709153" "subst" "0" "01943" "SI_000052" "g.164709153T>G" "" "" "" "SI(NM_001041.3):c.5096A>C (p.N1699T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719267" "0" "10" "3" "164710040" "164710040" "subst" "0.0261064" "02327" "SI_000053" "g.164710040G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719268" "0" "90" "3" "164714528" "164714528" "subst" "0" "02327" "SI_000054" "g.164714528A>G" "" "" "" "SI(NM_001041.3):c.4573T>C (p.Y1525H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719269" "0" "50" "3" "164741534" "164741534" "subst" "0.00420041" "02327" "SI_000012" "g.164741534A>G" "" "" "" "SI(NM_001041.3):c.2923T>C (p.Y975H, p.(Tyr975His)), SI(NM_001041.4):c.2923T>C (p.Y975H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719270" "0" "50" "3" "164750308" "164750308" "subst" "4.1112E-6" "01943" "SI_000055" "g.164750308A>T" "" "" "" "SI(NM_001041.3):c.2736+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719271" "0" "50" "3" "164750447" "164750447" "subst" "0.000102557" "01943" "SI_000056" "g.164750447A>G" "" "" "" "SI(NM_001041.3):c.2599T>C (p.Y867H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719272" "0" "90" "3" "164772976" "164772976" "subst" "0" "02327" "SI_000057" "g.164772976A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719273" "0" "50" "3" "164777793" "164777793" "subst" "0.00124994" "01943" "SI_000058" "g.164777793G>A" "" "" "" "SI(NM_001041.3):c.1043C>T (p.P348L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719274" "0" "10" "3" "164783165" "164783165" "subst" "0.619309" "02327" "SI_000024" "g.164783165T>C" "" "" "" "SI(NM_001041.4):c.691A>G (p.T231A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801066" "0" "50" "3" "164714528" "164714528" "subst" "0" "01943" "SI_000054" "g.164714528A>G" "" "" "" "SI(NM_001041.3):c.4573T>C (p.Y1525H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801067" "0" "30" "3" "164739025" "164739025" "subst" "4.08097E-6" "01943" "SI_000059" "g.164739025T>C" "" "" "" "SI(NM_001041.3):c.3246A>G (p.G1082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801068" "0" "90" "3" "164783069" "164783069" "subst" "4.07933E-6" "01943" "SI_000060" "g.164783069G>A" "" "" "" "SI(NM_001041.3):c.787C>T (p.R263*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858857" "0" "30" "3" "164712165" "164712165" "subst" "0.000371335" "01943" "SI_000061" "g.164712165G>C" "" "" "" "SI(NM_001041.3):c.4721C>G (p.T1574S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858858" "0" "30" "3" "164739037" "164739037" "subst" "0.00162768" "01943" "SI_000062" "g.164739037C>T" "" "" "" "SI(NM_001041.3):c.3234G>A (p.R1078=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858859" "0" "10" "3" "164760964" "164760964" "del" "0" "01943" "SI_000063" "g.164760964del" "" "" "" "SI(NM_001041.3):c.1888delG (p.V630Lfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858860" "0" "30" "3" "164781261" "164781261" "subst" "0.000123472" "01943" "SI_000064" "g.164781261G>A" "" "" "" "SI(NM_001041.3):c.876C>T (p.F292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911851" "0" "30" "3" "164732955" "164732955" "subst" "2.03363E-5" "02326" "SI_000065" "g.164732955C>T" "" "" "" "SI(NM_001041.4):c.3955G>A (p.V1319I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911852" "0" "30" "3" "164741534" "164741534" "subst" "0.00420041" "02326" "SI_000012" "g.164741534A>G" "" "" "" "SI(NM_001041.3):c.2923T>C (p.Y975H, p.(Tyr975His)), SI(NM_001041.4):c.2923T>C (p.Y975H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948065" "0" "50" "3" "164732996" "164732996" "subst" "7.73477E-5" "02325" "SI_000066" "g.164732996G>A" "" "" "" "SI(NM_001041.4):c.3914C>T (p.(Thr1305Ile), p.T1305I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962548" "0" "70" "3" "164764786" "164764786" "subst" "0.00157493" "02325" "SI_000028" "g.164764786A>C" "" "" "" "SI(NM_001041.3):c.1730T>G (p.V577G), SI(NM_001041.4):c.1730T>G (p.V577G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000993412" "0" "30" "3" "164741534" "164741534" "subst" "0.00420041" "01804" "SI_000012" "g.164741534A>G" "" "" "" "SI(NM_001041.3):c.2923T>C (p.Y975H, p.(Tyr975His)), SI(NM_001041.4):c.2923T>C (p.Y975H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033793" "0" "50" "3" "164732996" "164732996" "subst" "7.73477E-5" "01804" "SI_000066" "g.164732996G>A" "" "" "" "SI(NM_001041.4):c.3914C>T (p.(Thr1305Ile), p.T1305I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064100" "0" "50" "3" "164700167" "164700167" "subst" "0.000301738" "01804" "SI_000051" "g.164700167C>A" "" "" "" "SI(NM_001041.3):c.5279G>T (p.G1760V), SI(NM_001041.4):c.5279G>T (p.(Gly1760Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064101" "0" "50" "3" "164727113" "164727113" "subst" "8.13246E-5" "02325" "SI_000067" "g.164727113A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064102" "0" "50" "3" "164755794" "164755794" "subst" "0.00097454" "02325" "SI_000017" "g.164755794T>C" "" "" "" "SI(NM_001041.3):c.2320A>G (p.R774G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064103" "0" "50" "3" "164772996" "164772996" "subst" "0" "02325" "SI_000068" "g.164772996C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SI ## Count = 87 "{{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}}" "0000050345" "00018902" "90" "273" "0" "274" "0" "c.273_274del" "r.(?)" "p.(Gly92Leufs*8)" "4" "0000050346" "00018902" "90" "273" "0" "274" "0" "c.273_274del" "r.(?)" "p.(Gly92Leufs*8)" "4" "0000050347" "00018902" "90" "273" "0" "274" "0" "c.273_274del" "r.(?)" "p.(Gly92Leufs*8)" "4" "0000249028" "00018902" "10" "374" "-11" "374" "-11" "c.374-11del" "r.(=)" "p.(=)" "" "0000254979" "00018902" "30" "5193" "0" "5193" "0" "c.5193T>C" "r.(?)" "p.(Ser1731=)" "" "0000256688" "00018902" "30" "2923" "0" "2923" "0" "c.2923T>C" "r.(?)" "p.(Tyr975His)" "" "0000298205" "00018902" "10" "1146" "13" "1146" "13" "c.1146+13A>C" "r.(=)" "p.(=)" "" "0000298206" "00018902" "10" "1437" "0" "1437" "0" "c.1437C>T" "r.(?)" "p.(Asn479=)" "" "0000298207" "00018902" "10" "1797" "0" "1797" "0" "c.1797G>T" "r.(?)" "p.(Ala599=)" "" "0000298208" "00018902" "10" "3888" "19" "3888" "19" "c.3888+19C>T" "r.(=)" "p.(=)" "" "0000298209" "00018902" "10" "43" "0" "43" "0" "c.43G>T" "r.(?)" "p.(Val15Phe)" "" "0000298210" "00018902" "10" "4569" "0" "4569" "0" "c.4569G>A" "r.(?)" "p.(Met1523Ile)" "" "0000298211" "00018902" "10" "691" "0" "691" "0" "c.691A>G" "r.(?)" "p.(Thr231Ala)" "" "0000302110" "00018902" "30" "2737" "-5" "2737" "-5" "c.2737-5C>A" "r.spl?" "p.?" "" "0000308117" "00018902" "50" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Val371Met)" "" "0000308118" "00018902" "50" "1533" "0" "1533" "0" "c.1533C>G" "r.(?)" "p.(Ser511Arg)" "" "0000308119" "00018902" "50" "1846" "0" "1846" "0" "c.1846A>G" "r.(?)" "p.(Ile616Val)" "" "0000308120" "00018902" "50" "2320" "0" "2320" "0" "c.2320A>G" "r.(?)" "p.(Arg774Gly)" "" "0000308121" "00018902" "30" "2395" "0" "2395" "0" "c.2395A>G" "r.(?)" "p.(Ile799Val)" "" "0000308122" "00018902" "30" "2849" "0" "2849" "0" "c.2849C>A" "r.(?)" "p.(Ala950Glu)" "" "0000308123" "00018902" "70" "3218" "0" "3218" "0" "c.3218G>A" "r.(?)" "p.(Gly1073Asp)" "" "0000308124" "00018902" "50" "3557" "0" "3557" "0" "c.3557G>A" "r.(?)" "p.(Arg1186His)" "" "0000308125" "00018902" "30" "355" "0" "355" "0" "c.355A>T" "r.(?)" "p.(Met119Leu)" "" "0000308126" "00018902" "50" "4586" "0" "4586" "0" "c.4586A>G" "r.(?)" "p.(Asp1529Gly)" "" "0000308127" "00018902" "30" "4951" "0" "4951" "0" "c.4951G>A" "r.(?)" "p.(Val1651Ile)" "" "0000308128" "00018902" "30" "5301" "0" "5301" "0" "c.5301G>A" "r.(?)" "p.(Thr1767=)" "" "0000308129" "00018902" "30" "5403" "0" "5403" "0" "c.5403C>T" "r.(?)" "p.(Asp1801=)" "" "0000350597" "00018902" "90" "1730" "0" "1730" "0" "c.1730T>G" "r.(?)" "p.(Val577Gly)" "" "0000518407" "00018902" "10" "4569" "0" "4569" "0" "c.4569G>A" "r.(?)" "p.(Met1523Ile)" "" "0000518408" "00018902" "30" "4542" "0" "4542" "0" "c.4542T>C" "r.(?)" "p.(Gly1514=)" "" "0000518409" "00018902" "10" "4026" "0" "4026" "0" "c.4026A>G" "r.(?)" "p.(Thr1342=)" "" "0000518410" "00018902" "10" "4026" "0" "4026" "0" "c.4026A>G" "r.(?)" "p.(Thr1342=)" "" "0000518411" "00018902" "10" "3888" "19" "3888" "19" "c.3888+19C>T" "r.(=)" "p.(=)" "" "0000518412" "00018902" "90" "3218" "0" "3218" "0" "c.3218G>A" "r.(?)" "p.(Gly1073Asp)" "" "0000518413" "00018902" "50" "2834" "0" "2834" "0" "c.2834C>A" "r.(?)" "p.(Pro945Gln)" "" "0000518416" "00018902" "10" "2737" "-11" "2737" "-11" "c.2737-11dup" "r.(=)" "p.(=)" "" "0000518417" "00018902" "10" "1797" "0" "1797" "0" "c.1797G>T" "r.(?)" "p.(Ala599=)" "" "0000518418" "00018902" "70" "1780" "0" "1780" "0" "c.1780T>C" "r.(?)" "p.(Ser594Pro)" "" "0000518419" "00018902" "70" "1730" "0" "1730" "0" "c.1730T>G" "r.(?)" "p.(Val577Gly)" "" "0000518420" "00018902" "10" "1715" "99" "1715" "99" "c.1715+99G>T" "r.(=)" "p.(=)" "" "0000518421" "00018902" "10" "1437" "0" "1437" "0" "c.1437C>T" "r.(?)" "p.(Asn479=)" "" "0000518422" "00018902" "10" "1146" "13" "1146" "13" "c.1146+13A>C" "r.(=)" "p.(=)" "" "0000518423" "00018902" "10" "43" "0" "43" "0" "c.43G>T" "r.(?)" "p.(Val15Phe)" "" "0000608396" "00018902" "30" "3905" "0" "3905" "0" "c.3905G>C" "r.(?)" "p.(Gly1302Ala)" "" "0000608397" "00018902" "30" "3733" "0" "3733" "0" "c.3733G>A" "r.(?)" "p.(Ala1245Thr)" "" "0000608398" "00018902" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Tyr275=)" "" "0000608399" "00018902" "50" "653" "0" "653" "0" "c.653G>T" "r.(?)" "p.(Gly218Val)" "" "0000621207" "00018902" "30" "3720" "0" "3720" "0" "c.3720G>A" "r.(?)" "p.(Arg1240=)" "" "0000651123" "00018902" "50" "2923" "0" "2923" "0" "c.2923T>C" "r.(?)" "p.(Tyr975His)" "" "0000651124" "00018902" "70" "1730" "0" "1730" "0" "c.1730T>G" "r.(?)" "p.(Val577Gly)" "" "0000654839" "00018902" "30" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Glu1414Lys)" "" "0000654840" "00018902" "30" "4008" "0" "4008" "0" "c.4008A>G" "r.(?)" "p.(Pro1336=)" "" "0000654841" "00018902" "30" "2343" "0" "2343" "0" "c.2343T>C" "r.(?)" "p.(Tyr781=)" "" "0000654842" "00018902" "30" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Lys247Arg)" "" "0000676870" "00018902" "50" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Glu1414Lys)" "" "0000676871" "00018902" "30" "3634" "-5" "3634" "-5" "c.3634-5dup" "r.spl?" "p.?" "" "0000676872" "00018902" "50" "3389" "0" "3389" "0" "c.3389C>T" "r.(?)" "p.(Thr1130Ile)" "" "0000688975" "00018902" "30" "2892" "0" "2892" "0" "c.2892G>A" "r.(?)" "p.(Thr964=)" "" "0000688976" "00018902" "50" "1888" "-3" "1888" "-3" "c.1888-3T>A" "r.spl?" "p.?" "" "0000719264" "00018902" "30" "5363" "0" "5363" "0" "c.5363C>T" "r.(?)" "p.(Thr1788Met)" "" "0000719265" "00018902" "30" "5279" "0" "5279" "0" "c.5279G>T" "r.(?)" "p.(Gly1760Val)" "" "0000719266" "00018902" "30" "5096" "0" "5096" "0" "c.5096A>C" "r.(?)" "p.(Asn1699Thr)" "" "0000719267" "00018902" "10" "4927" "-19" "4927" "-19" "c.4927-19C>T" "r.(=)" "p.(=)" "" "0000719268" "00018902" "90" "4573" "0" "4573" "0" "c.4573T>C" "r.(?)" "p.(Tyr1525His)" "" "0000719269" "00018902" "50" "2923" "0" "2923" "0" "c.2923T>C" "r.(?)" "p.(Tyr975His)" "" "0000719270" "00018902" "50" "2736" "2" "2736" "2" "c.2736+2T>A" "r.spl?" "p.?" "" "0000719271" "00018902" "50" "2599" "0" "2599" "0" "c.2599T>C" "r.(?)" "p.(Tyr867His)" "" "0000719272" "00018902" "90" "1512" "6" "1512" "6" "c.1512+6T>C" "r.(=)" "p.(=)" "" "0000719273" "00018902" "50" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Pro348Leu)" "" "0000719274" "00018902" "10" "691" "0" "691" "0" "c.691A>G" "r.(?)" "p.(Thr231Ala)" "" "0000801066" "00018902" "50" "4573" "0" "4573" "0" "c.4573T>C" "r.(?)" "p.(Tyr1525His)" "" "0000801067" "00018902" "30" "3246" "0" "3246" "0" "c.3246A>G" "r.(?)" "p.(Gly1082=)" "" "0000801068" "00018902" "90" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Arg263*)" "" "0000858857" "00018902" "30" "4721" "0" "4721" "0" "c.4721C>G" "r.(?)" "p.(Thr1574Ser)" "" "0000858858" "00018902" "30" "3234" "0" "3234" "0" "c.3234G>A" "r.(?)" "p.(Arg1078=)" "" "0000858859" "00018902" "10" "1888" "0" "1888" "0" "c.1888del" "r.(?)" "p.(Val630Leufs*60)" "" "0000858860" "00018902" "30" "876" "0" "876" "0" "c.876C>T" "r.(?)" "p.(Phe292=)" "" "0000911851" "00018902" "30" "3955" "0" "3955" "0" "c.3955G>A" "r.(?)" "p.(Val1319Ile)" "" "0000911852" "00018902" "30" "2923" "0" "2923" "0" "c.2923T>C" "r.(?)" "p.(Tyr975His)" "" "0000948065" "00018902" "50" "3914" "0" "3914" "0" "c.3914C>T" "r.(?)" "p.(Thr1305Ile)" "" "0000962548" "00018902" "70" "1730" "0" "1730" "0" "c.1730T>G" "r.(?)" "p.(Val577Gly)" "" "0000993412" "00018902" "30" "2923" "0" "2923" "0" "c.2923T>C" "r.(?)" "p.(Tyr975His)" "" "0001033793" "00018902" "50" "3914" "0" "3914" "0" "c.3914C>T" "r.(?)" "p.(Thr1305Ile)" "" "0001064100" "00018902" "50" "5279" "0" "5279" "0" "c.5279G>T" "r.(?)" "p.(Gly1760Val)" "" "0001064101" "00018902" "50" "4133" "0" "4133" "0" "c.4133T>G" "r.(?)" "p.(Ile1378Ser)" "" "0001064102" "00018902" "50" "2320" "0" "2320" "0" "c.2320A>G" "r.(?)" "p.(Arg774Gly)" "" "0001064103" "00018902" "50" "1498" "0" "1498" "0" "c.1498G>T" "r.(?)" "p.(Asp500Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000027200" "0000050345" "0000027201" "0000050346" "0000027201" "0000050347" "0000294434" "0000651123" "0000294435" "0000651124"