### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABL1) # 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}}" "ABL1" "c-abl oncogene 1, non-receptor tyrosine kinase" "9" "q34.1" "unknown" "NG_012034.1" "UD_132118798256" "" "http://www.LOVD.nl/ABL1" "" "1" "76" "25" "189980" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ABL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-11-16 02:47:47" "00000" "2025-05-19 15:58:02" ## 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}}" "00001918" "ABL1" "transcript variant b" "001" "NM_007313.2" "" "NP_009297.2" "" "" "" "-439" "5442" "3450" "133589268" "133763062" "" "0000-00-00 00:00:00" "" "" "00024075" "ABL1" "transcript variant a" "002" "NM_005157.4" "" "NP_005148.2" "" "" "" "-3" "5385" "3393" "133710831" "133763062" "00006" "2015-11-16 02:46:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "06814" "CHDSKM" "Congenital heart defects and skeletal malformations syndrome" "AD" "617602" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ABL1" "06814" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00164461" "" "" "" "1" "" "02485" "" "" "M" "" "Spain" "" "0" "" "" "" "NBG" "00294764" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294765" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305225" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00164461" "00198" "00294764" "00198" "00294765" "00198" "00305225" "00198" "00307257" "01544" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01544, 06814 ## Count = 1 "{{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}}" "0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165329" "00164461" "1" "02485" "02485" "2018-05-22 11:48:11" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000295932" "00294764" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295933" "00294765" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306354" "00305225" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 102 "{{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}}" "0000248613" "0" "10" "9" "133761001" "133761001" "subst" "0.549531" "02325" "ABL1_000007" "g.133761001A>G" "" "" "" "ABL1(NM_007313.3):c.3381A>G (p.P1127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130885614A>G" "" "benign" "" "0000258866" "0" "10" "9" "133710804" "133710804" "subst" "0.990827" "02325" "ABL1_000002" "g.133710804T>C" "" "" "" "ABL1(NM_007313.3):c.137-18647T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130835417T>C" "" "benign" "" "0000258867" "0" "10" "9" "133710742" "133710742" "dup" "0" "02325" "ABL1_000001" "g.133710742dup" "" "" "" "ABL1(NM_007313.3):c.137-18709dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130835355dup" "" "benign" "" "0000261744" "0" "30" "9" "133759705" "133759705" "subst" "3.33375E-5" "01943" "ABL1_000004" "g.133759705C>T" "" "" "" "ABL1(NM_007313.2):c.2085C>T (p.S695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130884318C>T" "" "likely benign" "" "0000261745" "0" "30" "9" "133760380" "133760380" "subst" "0.00144697" "01943" "ABL1_000005" "g.133760380C>G" "" "" "" "ABL1(NM_005157.6):c.2703C>G (p.P901=), ABL1(NM_007313.2):c.2760C>G (p.P920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130884993C>G" "" "likely benign" "" "0000261746" "0" "10" "9" "133760593" "133760593" "subst" "0.0028992" "01943" "ABL1_000006" "g.133760593G>A" "" "" "" "ABL1(NM_005157.6):c.2916G>A (p.S972=), ABL1(NM_007313.2):c.2973G>A (p.S991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130885206G>A" "" "benign" "" "0000261747" "0" "50" "9" "133761021" "133761021" "subst" "0.000154777" "01943" "ABL1_000008" "g.133761021G>C" "" "" "" "ABL1(NM_007313.2):c.3401G>C (p.S1134T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130885634G>C" "" "VUS" "" "0000368992" "0" "50" "9" "133730311" "133730313" "del" "0" "02485" "ABL1_000009" "g.133730311_133730313del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.130854924_130854926del" "" "VUS" "" "0000536539" "0" "10" "9" "133710819" "133710820" "ins" "0.999967" "02325" "ABL1_000010" "g.133710819_133710820insC" "" "" "" "ABL1(NM_007313.3):c.137-18632_137-18631insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130835432_130835433insC" "" "benign" "" "0000536540" "0" "10" "9" "133729620" "133729620" "subst" "0.00647358" "01943" "ABL1_000011" "g.133729620T>G" "" "" "" "ABL1(NM_005157.6):c.249T>G (p.T83=), ABL1(NM_007313.2):c.306T>G (p.T102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130854233T>G" "" "benign" "" "0000536541" "0" "30" "9" "133730285" "133730285" "subst" "0.000523862" "01943" "ABL1_000012" "g.133730285G>A" "" "" "" "ABL1(NM_007313.2):c.408G>A (p.T136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130854898G>A" "" "likely benign" "" "0000536542" "0" "50" "9" "133738189" "133738189" "subst" "0.000330782" "01943" "ABL1_000013" "g.133738189G>A" "" "" "" "ABL1(NM_005157.6):c.589G>A (p.E197K), ABL1(NM_007313.2):c.646G>A (p.E216K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130862802G>A" "" "VUS" "" "0000536543" "0" "30" "9" "133738340" "133738340" "subst" "0.00259076" "01943" "ABL1_000014" "g.133738340A>G" "" "" "" "ABL1(NM_005157.6):c.740A>G (p.(Lys247Arg), p.K247R), ABL1(NM_007313.2):c.797A>G (p.K266R), ABL1(NM_007313.3):c.797A>G (p.K266R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130862953A>G" "" "likely benign" "" "0000536544" "0" "50" "9" "133748334" "133748334" "subst" "1.21883E-5" "01943" "ABL1_000015" "g.133748334G>A" "" "" "" "ABL1(NM_007313.2):c.1052G>A (p.R351Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130872947G>A" "" "VUS" "" "0000536545" "0" "50" "9" "133755889" "133755889" "subst" "0" "02327" "ABL1_000016" "g.133755889G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130880502G>A" "" "VUS" "" "0000536546" "0" "30" "9" "133759553" "133759553" "subst" "4.90826E-5" "01804" "ABL1_000017" "g.133759553G>A" "" "" "" "ABL1(NM_005157.4):c.1876G>A (p.(Gly626Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130884166G>A" "" "likely benign" "" "0000536547" "0" "10" "9" "133759576" "133759576" "subst" "0.00161577" "01943" "ABL1_000018" "g.133759576C>T" "" "" "" "ABL1(NM_005157.6):c.1899C>T (p.A633=), ABL1(NM_007313.2):c.1956C>T (p.A652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130884189C>T" "" "benign" "" "0000536548" "0" "30" "9" "133759638" "133759638" "subst" "2.15032E-5" "01943" "ABL1_000019" "g.133759638C>A" "" "" "" "ABL1(NM_007313.2):c.2018C>A (p.A673D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130884251C>A" "" "likely benign" "" "0000536549" "0" "30" "9" "133759712" "133759712" "subst" "0.000390628" "01943" "ABL1_000020" "g.133759712T>G" "" "" "" "ABL1(NM_005157.4):c.2035T>G (p.(Ser679Ala)), ABL1(NM_005157.6):c.2035T>G (p.S679A), ABL1(NM_007313.2):c.2092T>G (p.S698A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130884325T>G" "" "likely benign" "" "0000536550" "0" "50" "9" "133759841" "133759841" "subst" "9.42229E-5" "01943" "ABL1_000021" "g.133759841G>A" "" "" "" "ABL1(NM_007313.2):c.2221G>A (p.V741I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130884454G>A" "" "VUS" "" "0000536551" "0" "50" "9" "133760364" "133760364" "subst" "0" "01943" "ABL1_000022" "g.133760364A>C" "" "" "" "ABL1(NM_007313.2):c.2744A>C (p.K915T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130884977A>C" "" "VUS" "" "0000536552" "0" "30" "9" "133760421" "133760421" "subst" "0.000161996" "01943" "ABL1_000023" "g.133760421C>T" "" "" "" "ABL1(NM_005157.4):c.2744C>T (p.(Ser915Leu)), ABL1(NM_005157.6):c.2744C>T (p.S915L), ABL1(NM_007313.2):c.2801C>T (p.S934L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130885034C>T" "" "likely benign" "" "0000536553" "0" "30" "9" "133760592" "133760592" "subst" "0.0212037" "01804" "ABL1_000024" "g.133760592C>T" "" "" "" "ABL1(NM_005157.4):c.2915C>T (p.(Ser972Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130885205C>T" "" "likely benign" "" "0000536554" "0" "30" "9" "133760647" "133760647" "subst" "0.000431477" "01943" "ABL1_000025" "g.133760647G>A" "" "" "" "ABL1(NM_007313.2):c.3027G>A (p.S1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130885260G>A" "" "likely benign" "" "0000536555" "0" "50" "9" "133760715" "133760715" "subst" "0" "01943" "ABL1_000026" "g.133760715G>A" "" "" "" "ABL1(NM_007313.2):c.3095G>A (p.R1032Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130885328G>A" "" "VUS" "" "0000611900" "0" "30" "9" "133738152" "133738152" "subst" "0" "01943" "ABL1_000029" "g.133738152C>T" "" "" "" "ABL1(NM_007313.2):c.609C>T (p.L203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130862765C>T" "" "likely benign" "" "0000611902" "0" "30" "9" "133759546" "133759546" "subst" "0.0207106" "01804" "ABL1_000033" "g.133759546G>A" "" "" "" "ABL1(NM_005157.4):c.1869G>A (p.(Glu623=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130884159G>A" "" "likely benign" "" "0000611903" "0" "30" "9" "133760617" "133760617" "subst" "0.0325473" "01804" "ABL1_000034" "g.133760617C>T" "" "" "" "ABL1(NM_005157.4):c.2940C>T (p.(Pro980=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130885230C>T" "" "likely benign" "" "0000622180" "0" "30" "9" "133729499" "133729499" "subst" "0.000491478" "01943" "ABL1_000028" "g.133729499G>A" "" "" "" "ABL1(NM_007313.2):c.185G>A (p.S62N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130854112G>A" "" "likely benign" "" "0000622181" "0" "50" "9" "133738156" "133738156" "subst" "1.6441E-5" "01943" "ABL1_000030" "g.133738156G>A" "" "" "" "ABL1(NM_007313.2):c.613G>A (p.V205I), ABL1(NM_007313.3):c.613G>A (p.V205I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130862769G>A" "" "VUS" "" "0000622182" "0" "50" "9" "133759379" "133759379" "subst" "1.22274E-5" "01943" "ABL1_000032" "g.133759379G>A" "" "" "" "ABL1(NM_005157.4):c.1702G>A (p.(Val568Met)), ABL1(NM_007313.2):c.1759G>A (p.V587M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130883992G>A" "" "VUS" "" "0000652621" "1" "50" "9" "133760106" "133760106" "subst" "0.00540547" "03575" "ABL1_000035" "g.133760106C>T" "23/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 23 heterozygous; {DB:CLININrs2229071}" "Germline" "" "rs2229071" "0" "" "" "g.130884719C>T" "" "VUS" "" "0000652622" "1" "50" "9" "133760592" "133760592" "subst" "0.0212037" "03575" "ABL1_000024" "g.133760592C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 3 heterozygous, no homozygous; {DB:CLININrs2229067}" "Germline" "" "rs2229067" "0" "" "" "g.130885205C>T" "" "VUS" "" "0000656245" "0" "30" "9" "133730201" "133730201" "subst" "9.77796E-5" "01804" "ABL1_000036" "g.133730201G>A" "" "" "" "ABL1(NM_005157.4):c.267G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130854814G>A" "" "likely benign" "" "0000656246" "0" "50" "9" "133759697" "133759697" "subst" "0" "01943" "ABL1_000037" "g.133759697C>T" "" "" "" "ABL1(NM_007313.2):c.2077C>T (p.R693W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130884310C>T" "" "VUS" "" "0000656247" "0" "30" "9" "133759717" "133759717" "subst" "0.00253862" "01943" "ABL1_000038" "g.133759717C>T" "" "" "" "ABL1(NM_005157.4):c.2040C>T (p.(Gly680=)), ABL1(NM_007313.2):c.2097C>T (p.G699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130884330C>T" "" "likely benign" "" "0000656248" "0" "30" "9" "133759793" "133759793" "subst" "0.00256506" "01943" "ABL1_000039" "g.133759793G>A" "" "" "" "ABL1(NM_005157.4):c.2116G>A (p.(Gly706Ser)), ABL1(NM_007313.2):c.2173G>A (p.G725S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130884406G>A" "" "likely benign" "" "0000670042" "3" "50" "9" "133760106" "133760106" "subst" "0.00540547" "03575" "ABL1_000035" "g.133760106C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 homozygous; {DB:CLININrs2229071}" "Germline" "" "rs2229071" "0" "" "" "g.130884719C>T" "" "VUS" "" "0000678553" "0" "30" "9" "133755543" "133755543" "subst" "0.000596925" "01943" "ABL1_000040" "g.133755543C>T" "" "" "" "ABL1(NM_007313.2):c.1569C>T (p.D523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678554" "0" "30" "9" "133760498" "133760498" "subst" "8.27082E-6" "01804" "ABL1_000041" "g.133760498G>A" "" "" "" "ABL1(NM_005157.4):c.2821G>A (p.(Val941Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682710" "0" "70" "9" "133760903" "133760903" "subst" "0" "03753" "ABL1_000042" "g.133760903C>T" "0.078" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000690433" "0" "30" "9" "133759686" "133759686" "subst" "0.000366178" "01943" "ABL1_000043" "g.133759686A>G" "" "" "" "ABL1(NM_005157.6):c.2009A>G (p.N670S), ABL1(NM_007313.2):c.2066A>G (p.N689S), ABL1(NM_007313.3):c.2066A>G (p.N689S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690434" "0" "10" "9" "133759717" "133759717" "subst" "0.00253862" "01804" "ABL1_000038" "g.133759717C>T" "" "" "" "ABL1(NM_005157.4):c.2040C>T (p.(Gly680=)), ABL1(NM_007313.2):c.2097C>T (p.G699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690435" "0" "10" "9" "133759793" "133759793" "subst" "0.00256506" "01804" "ABL1_000039" "g.133759793G>A" "" "" "" "ABL1(NM_005157.4):c.2116G>A (p.(Gly706Ser)), ABL1(NM_007313.2):c.2173G>A (p.G725S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690436" "0" "50" "9" "133760160" "133760160" "subst" "1.24866E-5" "01943" "ABL1_000044" "g.133760160C>T" "" "" "" "ABL1(NM_007313.2):c.2540C>T (p.S847L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722305" "0" "30" "9" "133738340" "133738340" "subst" "0.00259076" "02325" "ABL1_000014" "g.133738340A>G" "" "" "" "ABL1(NM_005157.6):c.740A>G (p.(Lys247Arg), p.K247R), ABL1(NM_007313.2):c.797A>G (p.K266R), ABL1(NM_007313.3):c.797A>G (p.K266R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722306" "0" "50" "9" "133748399" "133748399" "subst" "0" "02329" "ABL1_000031" "g.133748399C>A" "" "" "" "ABL1(NM_007313.3):c.1117C>A (p.L373M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722307" "0" "50" "9" "133760067" "133760067" "subst" "0" "01943" "ABL1_000045" "g.133760067T>G" "" "" "" "ABL1(NM_007313.2):c.2447T>G (p.V816G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722308" "0" "30" "9" "133760171" "133760171" "subst" "0.000145547" "01943" "ABL1_000046" "g.133760171C>A" "" "" "" "ABL1(NM_007313.2):c.2551C>A (p.H851N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803910" "0" "10" "9" "133729620" "133729620" "subst" "0.00647358" "02329" "ABL1_000011" "g.133729620T>G" "" "" "" "ABL1(NM_005157.6):c.249T>G (p.T83=), ABL1(NM_007313.2):c.306T>G (p.T102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803911" "0" "10" "9" "133759378" "133759378" "subst" "0.00192916" "02329" "ABL1_000047" "g.133759378C>T" "" "" "" "ABL1(NM_005157.6):c.1701C>T (p.A567=), ABL1(NM_007313.2):c.1758C>T (p.A586=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803912" "0" "30" "9" "133759864" "133759864" "subst" "0.000506747" "01943" "ABL1_000048" "g.133759864G>A" "" "" "" "ABL1(NM_005157.6):c.2187G>A (p.T729=), ABL1(NM_007313.2):c.2244G>A (p.T748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803913" "0" "30" "9" "133759882" "133759882" "subst" "1.2257E-5" "01943" "ABL1_000049" "g.133759882G>A" "" "" "" "ABL1(NM_005157.6):c.2205G>A (p.T735=), ABL1(NM_007313.2):c.2262G>A (p.T754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803914" "0" "30" "9" "133760167" "133760167" "subst" "4.15928E-6" "01943" "ABL1_000050" "g.133760167C>A" "" "" "" "ABL1(NM_007313.2):c.2547C>A (p.L849=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852136" "0" "10" "9" "133738320" "133738320" "subst" "0.0029706" "02329" "ABL1_000051" "g.133738320G>A" "" "" "" "ABL1(NM_005157.6):c.720G>A (p.T240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852137" "0" "10" "9" "133759576" "133759576" "subst" "0.00161577" "02329" "ABL1_000018" "g.133759576C>T" "" "" "" "ABL1(NM_005157.6):c.1899C>T (p.A633=), ABL1(NM_007313.2):c.1956C>T (p.A652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852138" "0" "30" "9" "133759882" "133759882" "subst" "1.2257E-5" "02329" "ABL1_000049" "g.133759882G>A" "" "" "" "ABL1(NM_005157.6):c.2205G>A (p.T735=), ABL1(NM_007313.2):c.2262G>A (p.T754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852139" "0" "10" "9" "133760106" "133760106" "subst" "0.00540547" "02329" "ABL1_000035" "g.133760106C>T" "" "" "" "ABL1(NM_005157.4):c.2429C>T (p.(Pro810Leu)), ABL1(NM_005157.6):c.2429C>T (p.P810L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852140" "0" "30" "9" "133760459" "133760459" "subst" "0.000904682" "02329" "ABL1_000055" "g.133760459C>T" "" "" "" "ABL1(NM_005157.6):c.2782C>T (p.L928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861422" "0" "10" "9" "133738340" "133738340" "subst" "0.00259076" "02329" "ABL1_000014" "g.133738340A>G" "" "" "" "ABL1(NM_005157.6):c.740A>G (p.(Lys247Arg), p.K247R), ABL1(NM_007313.2):c.797A>G (p.K266R), ABL1(NM_007313.3):c.797A>G (p.K266R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861423" "0" "30" "9" "133738356" "133738356" "subst" "0" "02329" "ABL1_000052" "g.133738356G>A" "" "" "" "ABL1(NM_005157.6):c.756G>A (p.Q252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861424" "0" "10" "9" "133756065" "133756065" "subst" "0.00157339" "02329" "ABL1_000053" "g.133756065T>C" "" "" "" "ABL1(NM_005157.6):c.1678+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861425" "0" "50" "9" "133759379" "133759379" "del" "0" "01943" "ABL1_000054" "g.133759379del" "" "" "" "ABL1(NM_007313.2):c.1759delG (p.V587Cfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861426" "0" "10" "9" "133760593" "133760593" "subst" "0.0028992" "02329" "ABL1_000006" "g.133760593G>A" "" "" "" "ABL1(NM_005157.6):c.2916G>A (p.S972=), ABL1(NM_007313.2):c.2973G>A (p.S991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888657" "0" "30" "9" "133759417" "133759417" "subst" "5.28249E-5" "02329" "ABL1_000056" "g.133759417G>A" "" "" "" "ABL1(NM_005157.6):c.1740G>A (p.P580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888658" "0" "30" "9" "133759686" "133759686" "subst" "0.000366178" "02325" "ABL1_000043" "g.133759686A>G" "" "" "" "ABL1(NM_005157.6):c.2009A>G (p.N670S), ABL1(NM_007313.2):c.2066A>G (p.N689S), ABL1(NM_007313.3):c.2066A>G (p.N689S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888659" "0" "30" "9" "133759864" "133759864" "subst" "0.000506747" "02329" "ABL1_000048" "g.133759864G>A" "" "" "" "ABL1(NM_005157.6):c.2187G>A (p.T729=), ABL1(NM_007313.2):c.2244G>A (p.T748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888660" "0" "30" "9" "133759923" "133759923" "subst" "2.85924E-5" "02325" "ABL1_000057" "g.133759923C>T" "" "" "" "ABL1(NM_007313.3):c.2303C>T (p.S768L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888661" "0" "30" "9" "133760530" "133760530" "subst" "5.34236E-5" "02329" "ABL1_000058" "g.133760530G>A" "" "" "" "ABL1(NM_005157.6):c.2853G>A (p.P951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913092" "0" "30" "9" "133755564" "133755565" "del" "0.000328961" "02329" "ABL1_000059" "g.133755564_133755565del" "" "" "" "ABL1(NM_005157.6):c.1513+20_1513+21delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913093" "0" "30" "9" "133760380" "133760380" "subst" "0.00144697" "02329" "ABL1_000005" "g.133760380C>G" "" "" "" "ABL1(NM_005157.6):c.2703C>G (p.P901=), ABL1(NM_007313.2):c.2760C>G (p.P920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949202" "0" "50" "9" "133730278" "133730278" "subst" "0" "02329" "ABL1_000060" "g.133730278A>G" "" "" "" "ABL1(NM_005157.6):c.344A>G (p.Y115C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949203" "0" "50" "9" "133738156" "133738156" "subst" "1.6441E-5" "02325" "ABL1_000030" "g.133738156G>A" "" "" "" "ABL1(NM_007313.2):c.613G>A (p.V205I), ABL1(NM_007313.3):c.613G>A (p.V205I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949204" "0" "30" "9" "133747772" "133747772" "subst" "0" "02329" "ABL1_000061" "g.133747772G>A" "" "" "" "ABL1(NM_005157.6):c.907+172G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949205" "0" "50" "9" "133748298" "133748298" "subst" "1.6262E-5" "02325" "ABL1_000062" "g.133748298A>G" "" "" "" "ABL1(NM_007313.3):c.1016A>G (p.Y339C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965199" "0" "30" "9" "133738189" "133738189" "subst" "0.000330782" "02329" "ABL1_000013" "g.133738189G>A" "" "" "" "ABL1(NM_005157.6):c.589G>A (p.E197K), ABL1(NM_007313.2):c.646G>A (p.E216K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965200" "0" "50" "9" "133748415" "133748415" "subst" "0" "02327" "ABL1_000063" "g.133748415T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965201" "0" "30" "9" "133753475" "133753475" "subst" "0" "02329" "ABL1_000064" "g.133753475C>T" "" "" "" "ABL1(NM_005157.6):c.1271-327C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965202" "0" "30" "9" "133756047" "133756047" "subst" "0.000167931" "02329" "ABL1_000065" "g.133756047G>A" "" "" "" "ABL1(NM_005157.6):c.1674G>A (p.E558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978442" "0" "50" "9" "133738171" "133738171" "subst" "3.6868E-5" "02329" "ABL1_000066" "g.133738171C>T" "" "" "" "ABL1(NM_005157.4):c.571C>T (p.(Arg191Cys)), ABL1(NM_005157.6):c.571C>T (p.R191C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978443" "0" "30" "9" "133738340" "133738340" "subst" "0.00259076" "01804" "ABL1_000014" "g.133738340A>G" "" "" "" "ABL1(NM_005157.6):c.740A>G (p.(Lys247Arg), p.K247R), ABL1(NM_007313.2):c.797A>G (p.K266R), ABL1(NM_007313.3):c.797A>G (p.K266R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978444" "0" "10" "9" "133760635" "133760635" "subst" "0.00365448" "02329" "ABL1_000067" "g.133760635A>G" "" "" "" "ABL1(NM_005157.6):c.2958A>G (p.P986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000997545" "0" "50" "9" "133738171" "133738171" "subst" "3.6868E-5" "01804" "ABL1_000066" "g.133738171C>T" "" "" "" "ABL1(NM_005157.4):c.571C>T (p.(Arg191Cys)), ABL1(NM_005157.6):c.571C>T (p.R191C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997546" "0" "50" "9" "133753937" "133753937" "subst" "0" "01804" "ABL1_000068" "g.133753937A>G" "" "" "" "ABL1(NM_005157.4):c.1406A>G (p.(Tyr469Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997547" "0" "10" "9" "133756050" "133756050" "subst" "0.00246287" "02329" "ABL1_000069" "g.133756050C>T" "" "" "" "ABL1(NM_005157.6):c.1677C>T (p.S559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000997548" "0" "30" "9" "133759379" "133759379" "subst" "1.22274E-5" "01804" "ABL1_000032" "g.133759379G>A" "" "" "" "ABL1(NM_005157.4):c.1702G>A (p.(Val568Met)), ABL1(NM_007313.2):c.1759G>A (p.V587M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997549" "0" "30" "9" "133759686" "133759686" "subst" "0.000366178" "02329" "ABL1_000043" "g.133759686A>G" "" "" "" "ABL1(NM_005157.6):c.2009A>G (p.N670S), ABL1(NM_007313.2):c.2066A>G (p.N689S), ABL1(NM_007313.3):c.2066A>G (p.N689S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997550" "0" "30" "9" "133759698" "133759698" "subst" "2.50171E-5" "01804" "ABL1_000070" "g.133759698G>A" "" "" "" "ABL1(NM_005157.4):c.2021G>A (p.(Arg674Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997551" "0" "30" "9" "133759712" "133759712" "subst" "0.000390628" "01804" "ABL1_000020" "g.133759712T>G" "" "" "" "ABL1(NM_005157.4):c.2035T>G (p.(Ser679Ala)), ABL1(NM_005157.6):c.2035T>G (p.S679A), ABL1(NM_007313.2):c.2092T>G (p.S698A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997552" "0" "30" "9" "133759712" "133759712" "subst" "0.000390628" "02329" "ABL1_000020" "g.133759712T>G" "" "" "" "ABL1(NM_005157.4):c.2035T>G (p.(Ser679Ala)), ABL1(NM_005157.6):c.2035T>G (p.S679A), ABL1(NM_007313.2):c.2092T>G (p.S698A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997553" "0" "50" "9" "133759814" "133759814" "subst" "0" "01804" "ABL1_000071" "g.133759814T>G" "" "" "" "ABL1(NM_005157.4):c.2137T>G (p.(Phe713Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997554" "0" "30" "9" "133760106" "133760106" "subst" "0.00540547" "01804" "ABL1_000035" "g.133760106C>T" "" "" "" "ABL1(NM_005157.4):c.2429C>T (p.(Pro810Leu)), ABL1(NM_005157.6):c.2429C>T (p.P810L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997555" "0" "30" "9" "133760195" "133760195" "subst" "1.25521E-5" "01804" "ABL1_000072" "g.133760195A>G" "" "" "" "ABL1(NM_005157.4):c.2518A>G (p.(Ser840Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997556" "0" "50" "9" "133760421" "133760421" "subst" "0.000161996" "01804" "ABL1_000023" "g.133760421C>T" "" "" "" "ABL1(NM_005157.4):c.2744C>T (p.(Ser915Leu)), ABL1(NM_005157.6):c.2744C>T (p.S915L), ABL1(NM_007313.2):c.2801C>T (p.S934L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997557" "0" "10" "9" "133760677" "133760677" "subst" "0.00362133" "02329" "ABL1_000073" "g.133760677C>T" "" "" "" "ABL1(NM_005157.6):c.3000C>T (p.T1000=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014501" "0" "30" "9" "133760421" "133760421" "subst" "0.000161996" "02329" "ABL1_000023" "g.133760421C>T" "" "" "" "ABL1(NM_005157.4):c.2744C>T (p.(Ser915Leu)), ABL1(NM_005157.6):c.2744C>T (p.S915L), ABL1(NM_007313.2):c.2801C>T (p.S934L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025594" "0" "30" "9" "133755560" "133755560" "subst" "6.49815E-5" "02326" "ABL1_000074" "g.133755560C>T" "" "" "" "ABL1(NM_007313.2):c.1570+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037227" "0" "50" "9" "133748331" "133748331" "subst" "8.12519E-6" "01804" "ABL1_000075" "g.133748331A>T" "" "" "" "ABL1(NM_005157.6):c.992A>T (p.(Asn331Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037228" "0" "50" "9" "133755533" "133755533" "subst" "0" "01804" "ABL1_000076" "g.133755533G>A" "" "" "" "ABL1(NM_005157.6):c.1502G>A (p.(Ser501Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037229" "0" "10" "9" "133759378" "133759378" "subst" "0.00192916" "02326" "ABL1_000047" "g.133759378C>T" "" "" "" "ABL1(NM_005157.6):c.1701C>T (p.A567=), ABL1(NM_007313.2):c.1758C>T (p.A586=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037230" "0" "30" "9" "133759555" "133759555" "subst" "4.09172E-6" "01804" "ABL1_000077" "g.133759555C>G" "" "" "" "ABL1(NM_005157.6):c.1878C>G (p.(Gly626=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044855" "0" "70" "9" "133748403" "133748403" "subst" "0" "03779" "ABL1_000078" "g.133748403A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely 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 ABL1 ## Count = 202 "{{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}}" "0000248613" "00024075" "10" "3324" "0" "3324" "0" "c.3324A>G" "r.(?)" "p.(Pro1108=)" "" "0000248613" "00001918" "10" "3381" "0" "3381" "0" "c.3381A>G" "r.(?)" "p.(Pro1127=)" "" "0000258866" "00024075" "10" "-30" "0" "-30" "0" "c.-30T>C" "r.(?)" "p.(=)" "" "0000258866" "00001918" "10" "137" "-18647" "137" "-18647" "c.137-18647T>C" "r.(=)" "p.(=)" "" "0000258867" "00024075" "10" "-92" "0" "-92" "0" "c.-92dup" "r.(?)" "p.(=)" "" "0000258867" "00001918" "10" "137" "-18709" "137" "-18709" "c.137-18709dup" "r.(=)" "p.(=)" "" "0000261744" "00024075" "30" "2028" "0" "2028" "0" "c.2028C>T" "r.(?)" "p.(Ser676=)" "" "0000261744" "00001918" "30" "2085" "0" "2085" "0" "c.2085C>T" "r.(?)" "p.(Ser695=)" "" "0000261745" "00024075" "30" "2703" "0" "2703" "0" "c.2703C>G" "r.(?)" "p.(Pro901=)" "" "0000261745" "00001918" "30" "2760" "0" "2760" "0" "c.2760C>G" "r.(?)" "p.(Pro920=)" "" "0000261746" "00024075" "10" "2916" "0" "2916" "0" "c.2916G>A" "r.(?)" "p.(Ser972=)" "" "0000261746" "00001918" "10" "2973" "0" "2973" "0" "c.2973G>A" "r.(?)" "p.(Ser991=)" "" "0000261747" "00024075" "50" "3344" "0" "3344" "0" "c.3344G>C" "r.(?)" "p.(Ser1115Thr)" "" "0000261747" "00001918" "50" "3401" "0" "3401" "0" "c.3401G>C" "r.(?)" "p.(Ser1134Thr)" "" "0000368992" "00001918" "50" "434" "0" "436" "0" "c.434_436del" "r.(?)" "p.(Ser145del)" "3" "0000536539" "00024075" "10" "-15" "0" "-14" "0" "c.-15_-14insC" "r.(?)" "p.(=)" "" "0000536539" "00001918" "10" "137" "-18632" "137" "-18631" "c.137-18632_137-18631insC" "r.(=)" "p.(=)" "" "0000536540" "00024075" "10" "249" "0" "249" "0" "c.249T>G" "r.(?)" "p.(Thr83=)" "" "0000536540" "00001918" "10" "306" "0" "306" "0" "c.306T>G" "r.(?)" "p.(Thr102=)" "" "0000536541" "00024075" "30" "351" "0" "351" "0" "c.351G>A" "r.(?)" "p.(Thr117=)" "" "0000536541" "00001918" "30" "408" "0" "408" "0" "c.408G>A" "r.(?)" "p.(Thr136=)" "" "0000536542" "00024075" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Glu197Lys)" "" "0000536542" "00001918" "50" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Glu216Lys)" "" "0000536543" "00024075" "30" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Lys247Arg)" "" "0000536543" "00001918" "30" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Lys266Arg)" "" "0000536544" "00024075" "50" "995" "0" "995" "0" "c.995G>A" "r.(?)" "p.(Arg332Gln)" "" "0000536544" "00001918" "50" "1052" "0" "1052" "0" "c.1052G>A" "r.(?)" "p.(Arg351Gln)" "" "0000536545" "00024075" "50" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Val506Met)" "" "0000536545" "00001918" "50" "1573" "0" "1573" "0" "c.1573G>A" "r.(?)" "p.(Val525Met)" "" "0000536546" "00024075" "30" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Gly626Ser)" "" "0000536546" "00001918" "30" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Gly645Ser)" "" "0000536547" "00024075" "10" "1899" "0" "1899" "0" "c.1899C>T" "r.(?)" "p.(Ala633=)" "" "0000536547" "00001918" "10" "1956" "0" "1956" "0" "c.1956C>T" "r.(?)" "p.(Ala652=)" "" "0000536548" "00024075" "30" "1961" "0" "1961" "0" "c.1961C>A" "r.(?)" "p.(Ala654Asp)" "" "0000536548" "00001918" "30" "2018" "0" "2018" "0" "c.2018C>A" "r.(?)" "p.(Ala673Asp)" "" "0000536549" "00024075" "30" "2035" "0" "2035" "0" "c.2035T>G" "r.(?)" "p.(Ser679Ala)" "" "0000536549" "00001918" "30" "2092" "0" "2092" "0" "c.2092T>G" "r.(?)" "p.(Ser698Ala)" "" "0000536550" "00024075" "50" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Val722Ile)" "" "0000536550" "00001918" "50" "2221" "0" "2221" "0" "c.2221G>A" "r.(?)" "p.(Val741Ile)" "" "0000536551" "00024075" "50" "2687" "0" "2687" "0" "c.2687A>C" "r.(?)" "p.(Lys896Thr)" "" "0000536551" "00001918" "50" "2744" "0" "2744" "0" "c.2744A>C" "r.(?)" "p.(Lys915Thr)" "" "0000536552" "00024075" "30" "2744" "0" "2744" "0" "c.2744C>T" "r.(?)" "p.(Ser915Leu)" "" "0000536552" "00001918" "30" "2801" "0" "2801" "0" "c.2801C>T" "r.(?)" "p.(Ser934Leu)" "" "0000536553" "00024075" "30" "2915" "0" "2915" "0" "c.2915C>T" "r.(?)" "p.(Ser972Leu)" "" "0000536553" "00001918" "30" "2972" "0" "2972" "0" "c.2972C>T" "r.(?)" "p.(Ser991Leu)" "" "0000536554" "00024075" "30" "2970" "0" "2970" "0" "c.2970G>A" "r.(?)" "p.(Ser990=)" "" "0000536554" "00001918" "30" "3027" "0" "3027" "0" "c.3027G>A" "r.(?)" "p.(Ser1009=)" "" "0000536555" "00024075" "50" "3038" "0" "3038" "0" "c.3038G>A" "r.(?)" "p.(Arg1013Gln)" "" "0000536555" "00001918" "50" "3095" "0" "3095" "0" "c.3095G>A" "r.(?)" "p.(Arg1032Gln)" "" "0000611900" "00024075" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Leu184=)" "" "0000611900" "00001918" "30" "609" "0" "609" "0" "c.609C>T" "r.(?)" "p.(Leu203=)" "" "0000611902" "00024075" "30" "1869" "0" "1869" "0" "c.1869G>A" "r.(?)" "p.(Glu623=)" "" "0000611902" "00001918" "30" "1926" "0" "1926" "0" "c.1926G>A" "r.(?)" "p.(Glu642=)" "" "0000611903" "00024075" "30" "2940" "0" "2940" "0" "c.2940C>T" "r.(?)" "p.(Pro980=)" "" "0000611903" "00001918" "30" "2997" "0" "2997" "0" "c.2997C>T" "r.(?)" "p.(Pro999=)" "" "0000622180" "00024075" "30" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Ser43Asn)" "" "0000622180" "00001918" "30" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Ser62Asn)" "" "0000622181" "00024075" "50" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Val186Ile)" "" "0000622181" "00001918" "50" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Val205Ile)" "" "0000622182" "00024075" "50" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Val568Met)" "" "0000622182" "00001918" "50" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Met)" "" "0000652621" "00024075" "50" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Pro810Leu)" "" "0000652621" "00001918" "50" "2486" "0" "2486" "0" "c.2486C>T" "r.(?)" "p.(Pro829Leu)" "" "0000652622" "00024075" "50" "2915" "0" "2915" "0" "c.2915C>T" "r.(?)" "p.(Ser972Leu)" "" "0000652622" "00001918" "50" "2972" "0" "2972" "0" "c.2972C>T" "r.(?)" "p.(Ser991Leu)" "" "0000656245" "00024075" "30" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Arg89=)" "" "0000656245" "00001918" "30" "324" "0" "324" "0" "c.324G>A" "r.(?)" "p.(Arg108=)" "" "0000656246" "00024075" "50" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Trp)" "" "0000656246" "00001918" "50" "2077" "0" "2077" "0" "c.2077C>T" "r.(?)" "p.(Arg693Trp)" "" "0000656247" "00024075" "30" "2040" "0" "2040" "0" "c.2040C>T" "r.(?)" "p.(Gly680=)" "" "0000656247" "00001918" "30" "2097" "0" "2097" "0" "c.2097C>T" "r.(?)" "p.(Gly699=)" "" "0000656248" "00024075" "30" "2116" "0" "2116" "0" "c.2116G>A" "r.(?)" "p.(Gly706Ser)" "" "0000656248" "00001918" "30" "2173" "0" "2173" "0" "c.2173G>A" "r.(?)" "p.(Gly725Ser)" "" "0000670042" "00024075" "50" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Pro810Leu)" "" "0000670042" "00001918" "50" "2486" "0" "2486" "0" "c.2486C>T" "r.(?)" "p.(Pro829Leu)" "" "0000678553" "00024075" "30" "1512" "0" "1512" "0" "c.1512C>T" "r.(?)" "p.(Asp504=)" "" "0000678553" "00001918" "30" "1569" "0" "1569" "0" "c.1569C>T" "r.(?)" "p.(Asp523=)" "" "0000678554" "00024075" "30" "2821" "0" "2821" "0" "c.2821G>A" "r.(?)" "p.(Val941Met)" "" "0000678554" "00001918" "30" "2878" "0" "2878" "0" "c.2878G>A" "r.(?)" "p.(Val960Met)" "" "0000682710" "00024075" "70" "3226" "0" "3226" "0" "c.3226C>T" "r.(?)" "p.(Gln1076*)" "" "0000682710" "00001918" "70" "3283" "0" "3283" "0" "c.3283C>T" "r.(?)" "p.(Gln1095*)" "" "0000690433" "00024075" "30" "2009" "0" "2009" "0" "c.2009A>G" "r.(?)" "p.(Asn670Ser)" "" "0000690433" "00001918" "30" "2066" "0" "2066" "0" "c.2066A>G" "r.(?)" "p.(Asn689Ser)" "" "0000690434" "00024075" "10" "2040" "0" "2040" "0" "c.2040C>T" "r.(?)" "p.(Gly680=)" "" "0000690434" "00001918" "10" "2097" "0" "2097" "0" "c.2097C>T" "r.(?)" "p.(Gly699=)" "" "0000690435" "00024075" "10" "2116" "0" "2116" "0" "c.2116G>A" "r.(?)" "p.(Gly706Ser)" "" "0000690435" "00001918" "10" "2173" "0" "2173" "0" "c.2173G>A" "r.(?)" "p.(Gly725Ser)" "" "0000690436" "00024075" "50" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Ser828Leu)" "" "0000690436" "00001918" "50" "2540" "0" "2540" "0" "c.2540C>T" "r.(?)" "p.(Ser847Leu)" "" "0000722305" "00024075" "30" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Lys247Arg)" "" "0000722305" "00001918" "30" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Lys266Arg)" "" "0000722306" "00024075" "50" "1060" "0" "1060" "0" "c.1060C>A" "r.(?)" "p.(Leu354Met)" "" "0000722306" "00001918" "50" "1117" "0" "1117" "0" "c.1117C>A" "r.(?)" "p.(Leu373Met)" "" "0000722307" "00024075" "50" "2390" "0" "2390" "0" "c.2390T>G" "r.(?)" "p.(Val797Gly)" "" "0000722307" "00001918" "50" "2447" "0" "2447" "0" "c.2447T>G" "r.(?)" "p.(Val816Gly)" "" "0000722308" "00024075" "30" "2494" "0" "2494" "0" "c.2494C>A" "r.(?)" "p.(His832Asn)" "" "0000722308" "00001918" "30" "2551" "0" "2551" "0" "c.2551C>A" "r.(?)" "p.(His851Asn)" "" "0000803910" "00024075" "10" "249" "0" "249" "0" "c.249T>G" "r.(?)" "p.(Thr83=)" "" "0000803910" "00001918" "10" "306" "0" "306" "0" "c.306T>G" "r.(?)" "p.(Thr102=)" "" "0000803911" "00024075" "10" "1701" "0" "1701" "0" "c.1701C>T" "r.(?)" "p.(Ala567=)" "" "0000803911" "00001918" "10" "1758" "0" "1758" "0" "c.1758C>T" "r.(?)" "p.(Ala586=)" "" "0000803912" "00024075" "30" "2187" "0" "2187" "0" "c.2187G>A" "r.(?)" "p.(Thr729=)" "" "0000803912" "00001918" "30" "2244" "0" "2244" "0" "c.2244G>A" "r.(?)" "p.(Thr748=)" "" "0000803913" "00024075" "30" "2205" "0" "2205" "0" "c.2205G>A" "r.(?)" "p.(Thr735=)" "" "0000803913" "00001918" "30" "2262" "0" "2262" "0" "c.2262G>A" "r.(?)" "p.(Thr754=)" "" "0000803914" "00024075" "30" "2490" "0" "2490" "0" "c.2490C>A" "r.(?)" "p.(Leu830=)" "" "0000803914" "00001918" "30" "2547" "0" "2547" "0" "c.2547C>A" "r.(?)" "p.(Leu849=)" "" "0000852136" "00024075" "10" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Thr240=)" "" "0000852136" "00001918" "10" "777" "0" "777" "0" "c.777G>A" "r.(?)" "p.(Thr259=)" "" "0000852137" "00024075" "10" "1899" "0" "1899" "0" "c.1899C>T" "r.(?)" "p.(Ala633=)" "" "0000852137" "00001918" "10" "1956" "0" "1956" "0" "c.1956C>T" "r.(?)" "p.(Ala652=)" "" "0000852138" "00024075" "30" "2205" "0" "2205" "0" "c.2205G>A" "r.(?)" "p.(Thr735=)" "" "0000852138" "00001918" "30" "2262" "0" "2262" "0" "c.2262G>A" "r.(?)" "p.(Thr754=)" "" "0000852139" "00024075" "10" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Pro810Leu)" "" "0000852139" "00001918" "10" "2486" "0" "2486" "0" "c.2486C>T" "r.(?)" "p.(Pro829Leu)" "" "0000852140" "00024075" "30" "2782" "0" "2782" "0" "c.2782C>T" "r.(?)" "p.(Leu928=)" "" "0000852140" "00001918" "30" "2839" "0" "2839" "0" "c.2839C>T" "r.(?)" "p.(Leu947=)" "" "0000861422" "00024075" "10" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Lys247Arg)" "" "0000861422" "00001918" "10" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Lys266Arg)" "" "0000861423" "00024075" "30" "756" "0" "756" "0" "c.756G>A" "r.(?)" "p.(Gln252=)" "" "0000861423" "00001918" "30" "813" "0" "813" "0" "c.813G>A" "r.(?)" "p.(Gln271=)" "" "0000861424" "00024075" "10" "1678" "14" "1678" "14" "c.1678+14T>C" "r.(=)" "p.(=)" "" "0000861424" "00001918" "10" "1735" "14" "1735" "14" "c.1735+14T>C" "r.(=)" "p.(=)" "" "0000861425" "00024075" "50" "1702" "0" "1702" "0" "c.1702del" "r.(?)" "p.(Val568Cysfs*17)" "" "0000861425" "00001918" "50" "1759" "0" "1759" "0" "c.1759del" "r.(?)" "p.(Val587Cysfs*17)" "" "0000861426" "00024075" "10" "2916" "0" "2916" "0" "c.2916G>A" "r.(?)" "p.(Ser972=)" "" "0000861426" "00001918" "10" "2973" "0" "2973" "0" "c.2973G>A" "r.(?)" "p.(Ser991=)" "" "0000888657" "00024075" "30" "1740" "0" "1740" "0" "c.1740G>A" "r.(?)" "p.(Pro580=)" "" "0000888657" "00001918" "30" "1797" "0" "1797" "0" "c.1797G>A" "r.(?)" "p.(Pro599=)" "" "0000888658" "00024075" "30" "2009" "0" "2009" "0" "c.2009A>G" "r.(?)" "p.(Asn670Ser)" "" "0000888658" "00001918" "30" "2066" "0" "2066" "0" "c.2066A>G" "r.(?)" "p.(Asn689Ser)" "" "0000888659" "00024075" "30" "2187" "0" "2187" "0" "c.2187G>A" "r.(?)" "p.(Thr729=)" "" "0000888659" "00001918" "30" "2244" "0" "2244" "0" "c.2244G>A" "r.(?)" "p.(Thr748=)" "" "0000888660" "00024075" "30" "2246" "0" "2246" "0" "c.2246C>T" "r.(?)" "p.(Ser749Leu)" "" "0000888660" "00001918" "30" "2303" "0" "2303" "0" "c.2303C>T" "r.(?)" "p.(Ser768Leu)" "" "0000888661" "00024075" "30" "2853" "0" "2853" "0" "c.2853G>A" "r.(?)" "p.(Pro951=)" "" "0000888661" "00001918" "30" "2910" "0" "2910" "0" "c.2910G>A" "r.(?)" "p.(Pro970=)" "" "0000913092" "00024075" "30" "1513" "20" "1513" "21" "c.1513+20_1513+21del" "r.(=)" "p.(=)" "" "0000913092" "00001918" "30" "1570" "20" "1570" "21" "c.1570+20_1570+21del" "r.(=)" "p.(=)" "" "0000913093" "00024075" "30" "2703" "0" "2703" "0" "c.2703C>G" "r.(?)" "p.(Pro901=)" "" "0000913093" "00001918" "30" "2760" "0" "2760" "0" "c.2760C>G" "r.(?)" "p.(Pro920=)" "" "0000949202" "00024075" "50" "344" "0" "344" "0" "c.344A>G" "r.(?)" "p.(Tyr115Cys)" "" "0000949202" "00001918" "50" "401" "0" "401" "0" "c.401A>G" "r.(?)" "p.(Tyr134Cys)" "" "0000949203" "00024075" "50" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Val186Ile)" "" "0000949203" "00001918" "50" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Val205Ile)" "" "0000949204" "00024075" "30" "907" "172" "907" "172" "c.907+172G>A" "r.(=)" "p.(=)" "" "0000949204" "00001918" "30" "964" "172" "964" "172" "c.964+172G>A" "r.(=)" "p.(=)" "" "0000949205" "00024075" "50" "959" "0" "959" "0" "c.959A>G" "r.(?)" "p.(Tyr320Cys)" "" "0000949205" "00001918" "50" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Tyr339Cys)" "" "0000965199" "00024075" "30" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Glu197Lys)" "" "0000965199" "00001918" "30" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Glu216Lys)" "" "0000965200" "00024075" "50" "1076" "0" "1076" "0" "c.1076T>G" "r.(?)" "p.(Phe359Cys)" "" "0000965200" "00001918" "50" "1133" "0" "1133" "0" "c.1133T>G" "r.(?)" "p.(Phe378Cys)" "" "0000965201" "00024075" "30" "1271" "-327" "1271" "-327" "c.1271-327C>T" "r.(=)" "p.(=)" "" "0000965201" "00001918" "30" "1328" "-327" "1328" "-327" "c.1328-327C>T" "r.(=)" "p.(=)" "" "0000965202" "00024075" "30" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(=)" "" "0000965202" "00001918" "30" "1731" "0" "1731" "0" "c.1731G>A" "r.(?)" "p.(=)" "" "0000978442" "00024075" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Cys)" "" "0000978442" "00001918" "50" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Arg210Cys)" "" "0000978443" "00024075" "30" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Lys247Arg)" "" "0000978443" "00001918" "30" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Lys266Arg)" "" "0000978444" "00024075" "10" "2958" "0" "2958" "0" "c.2958A>G" "r.(?)" "p.(=)" "" "0000978444" "00001918" "10" "3015" "0" "3015" "0" "c.3015A>G" "r.(?)" "p.(=)" "" "0000997545" "00024075" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Cys)" "" "0000997545" "00001918" "50" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Arg210Cys)" "" "0000997546" "00024075" "50" "1406" "0" "1406" "0" "c.1406A>G" "r.(?)" "p.(Tyr469Cys)" "" "0000997546" "00001918" "50" "1463" "0" "1463" "0" "c.1463A>G" "r.(?)" "p.(Tyr488Cys)" "" "0000997547" "00024075" "10" "1677" "0" "1677" "0" "c.1677C>T" "r.(?)" "p.(=)" "" "0000997547" "00001918" "10" "1734" "0" "1734" "0" "c.1734C>T" "r.(?)" "p.(=)" "" "0000997548" "00024075" "30" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Val568Met)" "" "0000997548" "00001918" "30" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Met)" "" "0000997549" "00024075" "30" "2009" "0" "2009" "0" "c.2009A>G" "r.(?)" "p.(Asn670Ser)" "" "0000997549" "00001918" "30" "2066" "0" "2066" "0" "c.2066A>G" "r.(?)" "p.(Asn689Ser)" "" "0000997550" "00024075" "30" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Arg674Gln)" "" "0000997550" "00001918" "30" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Arg693Gln)" "" "0000997551" "00024075" "30" "2035" "0" "2035" "0" "c.2035T>G" "r.(?)" "p.(Ser679Ala)" "" "0000997551" "00001918" "30" "2092" "0" "2092" "0" "c.2092T>G" "r.(?)" "p.(Ser698Ala)" "" "0000997552" "00024075" "30" "2035" "0" "2035" "0" "c.2035T>G" "r.(?)" "p.(Ser679Ala)" "" "0000997552" "00001918" "30" "2092" "0" "2092" "0" "c.2092T>G" "r.(?)" "p.(Ser698Ala)" "" "0000997553" "00024075" "50" "2137" "0" "2137" "0" "c.2137T>G" "r.(?)" "p.(Phe713Val)" "" "0000997553" "00001918" "50" "2194" "0" "2194" "0" "c.2194T>G" "r.(?)" "p.(Phe732Val)" "" "0000997554" "00024075" "30" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Pro810Leu)" "" "0000997554" "00001918" "30" "2486" "0" "2486" "0" "c.2486C>T" "r.(?)" "p.(Pro829Leu)" "" "0000997555" "00024075" "30" "2518" "0" "2518" "0" "c.2518A>G" "r.(?)" "p.(Ser840Gly)" "" "0000997555" "00001918" "30" "2575" "0" "2575" "0" "c.2575A>G" "r.(?)" "p.(Ser859Gly)" "" "0000997556" "00024075" "50" "2744" "0" "2744" "0" "c.2744C>T" "r.(?)" "p.(Ser915Leu)" "" "0000997556" "00001918" "50" "2801" "0" "2801" "0" "c.2801C>T" "r.(?)" "p.(Ser934Leu)" "" "0000997557" "00024075" "10" "3000" "0" "3000" "0" "c.3000C>T" "r.(?)" "p.(=)" "" "0000997557" "00001918" "10" "3057" "0" "3057" "0" "c.3057C>T" "r.(?)" "p.(=)" "" "0001014501" "00024075" "30" "2744" "0" "2744" "0" "c.2744C>T" "r.(?)" "p.(Ser915Leu)" "" "0001014501" "00001918" "30" "2801" "0" "2801" "0" "c.2801C>T" "r.(?)" "p.(Ser934Leu)" "" "0001025594" "00024075" "30" "1513" "16" "1513" "16" "c.1513+16C>T" "r.(=)" "p.(=)" "" "0001025594" "00001918" "30" "1570" "16" "1570" "16" "c.1570+16C>T" "r.(=)" "p.(=)" "" "0001037227" "00024075" "50" "992" "0" "992" "0" "c.992A>T" "r.(?)" "p.(Asn331Ile)" "" "0001037227" "00001918" "50" "1049" "0" "1049" "0" "c.1049A>T" "r.(?)" "p.(Asn350Ile)" "" "0001037228" "00024075" "50" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Ser501Asn)" "" "0001037228" "00001918" "50" "1559" "0" "1559" "0" "c.1559G>A" "r.(?)" "p.(Ser520Asn)" "" "0001037229" "00024075" "10" "1701" "0" "1701" "0" "c.1701C>T" "r.(?)" "p.(Ala567=)" "" "0001037229" "00001918" "10" "1758" "0" "1758" "0" "c.1758C>T" "r.(?)" "p.(Ala586=)" "" "0001037230" "00024075" "30" "1878" "0" "1878" "0" "c.1878C>G" "r.(?)" "p.(=)" "" "0001037230" "00001918" "30" "1935" "0" "1935" "0" "c.1935C>G" "r.(?)" "p.(=)" "" "0001044855" "00024075" "70" "1064" "0" "1064" "0" "c.1064A>T" "r.(?)" "p.(Glu355Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000165329" "0000368992" "0000295932" "0000652621" "0000295933" "0000652622" "0000306354" "0000670042" "0000308399" "0000682710"