### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCC2) # 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}}" "ABCC2" "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" "10" "q24" "unknown" "NG_011798.1" "UD_132118520820" "" "https://www.LOVD.nl/ABCC2" "" "1" "53" "1244" "601107" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ABCC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-04 13:14:55" "00006" "2025-08-18 13:53:57" ## 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}}" "00001868" "ABCC2" "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" "001" "NM_000392.3" "" "NP_000383.1" "" "" "" "-139" "4912" "4638" "101542463" "101611662" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00174" "FH" "hypercholesterolemia, familial (FH)" "AD" "" "" "" "" "00006" "2013-08-11 14:06:36" "00006" "2020-02-26 12:49:47" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "01851" "DJS" "Dubin-Johnson syndrome (DJS)" "AR" "237500" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ABCC2" "01851" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00143683" "" "" "" "4" "" "02332" "" "6 generation family, 10 affected (DNA available from 1F, 3M), unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "white" "ALS-518" "00143789" "" "" "00143683" "1" "" "02332" "" "" "M" "yes" "Turkey" "" "0" "" "" "" "ALS-856" "00143791" "" "" "00143683" "1" "" "02332" "" "" "M" "yes" "Turkey" "" "0" "" "" "" "ALS-869" "00143792" "" "" "00143683" "1" "" "02332" "" "" "M" "yes" "Turkey" "" "0" "" "" "" "ALS-1077" "00181150" "" "" "" "1" "" "02552" "" "" "M" "no" "Eritrea" "" "0" "" "" "" "72440" "00248173" "" "" "" "1" "" "03367" "" "" "M" "" "Russia" ">05y" "0" "" "" "" "" "00248211" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00248233" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00267047" "" "" "" "1" "" "03462" "{PMID:Wong 2019:31617323}, {DOI:Wong 2019:10.1002/mgg3.1007}" "2-generation family, 2 homozygous affected sisters (I1, I3), heterozygous carrier parents" "F" "" "Mexico" "02y" "0" "" "" "Hispanic" "Fam2PatI1" "00289962" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289963" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289964" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289965" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289966" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289967" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289968" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289969" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289970" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289971" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289972" "" "" "" "74" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304225" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304226" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307648" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}" "" "M" "" "Japan" "" "0" "" "" "" "NCU12" "00307649" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}" "" "M" "" "Japan" "" "0" "" "" "" "NCU13" "00307660" "" "" "" "2" "" "00006" "{PMID:Togawa 2016:26858187}" "family, 2 affected sisters" "F" "" "Japan" "" "0" "" "" "" "NCU25" "00307662" "" "" "" "2" "" "00006" "{PMID:Togawa 2016:26858187}" "family, 2 affected sisters" "F" "" "Japan" "" "0" "" "" "" "NCU27" "00415271" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "F" "" "" "" "0" "" "" "" "26" "00466328" "" "" "" "1" "" "04866" "" "" "M" "?" "Hong Kong" "" "" "" "" "Chinese" "013C" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00143683" "04255" "00143789" "04255" "00143791" "04255" "00143792" "04255" "00181150" "00344" "00248173" "01851" "00248211" "00318" "00248233" "00318" "00267047" "00174" "00289962" "00198" "00289963" "00198" "00289964" "00198" "00289965" "00198" "00289966" "00198" "00289967" "00198" "00289968" "00198" "00289969" "00198" "00289970" "00198" "00289971" "00198" "00289972" "00198" "00304225" "00198" "00304226" "00198" "00307648" "01851" "00307649" "01851" "00307660" "00198" "00307662" "00198" "00415271" "04214" "00466328" "00291" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00174, 00198, 00291, 00318, 00344, 01851, 04214, 04255 ## Count = 15 "{{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}}" "0000116445" "04255" "00143683" "02332" "Familial, autosomal recessive" "25y" "increased deep tendon reflexes in the lower limbs (HP:0002395), hand interosseous muscle atrophy (HP:0007181), limb fasciculation (HP:0007289) and muscle fibrillation (HP:0010546)in right first interracial, biceps and both tibialis anterior muscles, tongue fasciculations (HP:0001308)" "15y-20y" "20y?" "Difficulty in walking (HP:0002355)" "" "" "" "" "" "" "" "" "0000116559" "04255" "00143789" "02332" "Familial, autosomal recessive" "37y" "" "32y" "37y" "" "" "" "" "" "" "" "" "" "0000116560" "04255" "00143791" "02332" "Familial, autosomal recessive" "53y" "" "49y" "53y" "" "" "" "" "" "" "" "" "" "0000116561" "04255" "00143792" "02332" "Familial, autosomal recessive" "15y" "" "15y?" "15y" "" "" "" "" "" "" "" "" "" "0000143995" "00344" "00181150" "02552" "Isolated (sporadic)" "" "" "04y03m" "" "" "" "" "" "" "" "" "" "" "0000187178" "01851" "00248173" "03367" "Familial, autosomal recessive" "" "Conjugated hyperbilirubinemia" "" "" "" "" "" "" "" "" "" "" "" "0000187220" "00318" "00248211" "01474" "Unknown" "" "44y ductal breast cancer, subtype luminal A" "44y" "" "" "" "" "" "" "" "" "breast cancer" "" "0000187242" "00318" "00248233" "01474" "Unknown" "" "51y ductal breast cancer, subtype luminal A" "51y" "" "" "" "" "" "" "" "" "breast cancer" "" "0000204977" "00174" "00267047" "03462" "Familial, autosomal dominant" "02y" "LDL 672mg/dl" "" "" "HP:0003124" "" "" "" "" "" "Homozygous familial hypercholesterolemia" "Homozygous familial hypercholesterolemia" "" "0000233213" "01851" "00307648" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DJS" "neonatal Dubin-Johnson syndrome" "" "0000233214" "01851" "00307649" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DJS" "neonatal Dubin-Johnson syndrome" "" "0000233225" "00198" "00307660" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000233227" "00198" "00307662" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000307069" "04214" "00415271" "00000" "Familial, autosomal recessive" "" "OMIM: 237500; jaundice and conjugated hyperbilirubinemia" "" "" "" "" "" "" "" "" "Dubin-Johnson Syndro" "" "" "0000351691" "00291" "00466328" "04866" "Unknown" "6y-15y" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000144540" "00143683" "1" "02332" "02332" "2017-12-03 21:36:56" "" "" "SEQ-NG" "DNA" "Blood" "" "0000144648" "00143789" "1" "02332" "02332" "2017-12-06 10:27:52" "" "" "SEQ-NG" "DNA" "" "" "0000144650" "00143791" "1" "02332" "02332" "2017-12-06 10:44:23" "" "" "SEQ-NG" "DNA" "" "" "0000144651" "00143792" "1" "02332" "02332" "2017-12-06 10:52:48" "" "" "PCR" "DNA" "" "" "0000182108" "00181150" "1" "02552" "02552" "2018-10-02 11:43:41" "00006" "2018-10-23 21:12:13" "RT-PCR;SEQ-NG-I" "DNA;RNA" "blood" "WES" "0000249278" "00248173" "1" "03367" "03367" "2019-07-19 13:45:24" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000249316" "00248211" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000249338" "00248233" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000268176" "00267047" "1" "03462" "03462" "2019-11-01 04:28:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000291130" "00289962" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291131" "00289963" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291132" "00289964" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291133" "00289965" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291134" "00289966" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291135" "00289967" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291136" "00289968" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291137" "00289969" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291138" "00289970" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291139" "00289971" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291140" "00289972" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305354" "00304225" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305355" "00304226" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308789" "00307648" "1" "00006" "00006" "2020-08-17 14:56:28" "" "" "SEQ" "DNA" "" "" "0000308790" "00307649" "1" "00006" "00006" "2020-08-17 14:56:28" "" "" "SEQ" "DNA" "" "" "0000308801" "00307660" "1" "00006" "00006" "2020-08-17 14:56:28" "" "" "SEQ" "DNA" "" "" "0000308803" "00307662" "1" "00006" "00006" "2020-08-17 14:56:28" "" "" "SEQ" "DNA" "" "" "0000416553" "00415271" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000467986" "00466328" "1" "04866" "04866" "2025-08-18 08:44:14" "" "" "MS;SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000144540" "ABCC2" "0000144540" "C9orf72" "0000144540" "ERLIN1" "0000144540" "FUS" "0000144540" "SOD1" "0000144540" "TARDBP" "0000144648" "ABCC2" "0000144648" "ERLIN1" "0000144650" "ABCC2" "0000144650" "ERLIN1" "0000144651" "ABCC2" "0000144651" "ERLIN1" "0000268176" "LDLR" "0000308789" "ABCC2" "0000308790" "ABCC2" "0000308801" "ABCC2" "0000308803" "ABCC2" "0000416553" "ABCC2" ## 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 = 67 "{{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}}" "0000235010" "3" "50" "10" "101590157" "101590157" "subst" "3.2486E-5" "02332" "ABCC2_000001" "g.101590157G>T" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.99830400G>T" "" "VUS" "" "0000235462" "3" "50" "10" "101590157" "101590157" "subst" "3.2486E-5" "02332" "ABCC2_000001" "g.101590157G>T" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.99830400G>T" "" "VUS" "" "0000235467" "3" "50" "10" "101590157" "101590157" "subst" "3.2486E-5" "02332" "ABCC2_000001" "g.101590157G>T" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.99830400G>T" "" "VUS" "" "0000235468" "3" "50" "10" "101590157" "101590157" "subst" "3.2486E-5" "02332" "ABCC2_000001" "g.101590157G>T" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.99830400G>T" "" "VUS" "" "0000248952" "0" "10" "10" "101544447" "101544447" "subst" "0.998501" "02325" "ABCC2_000002" "g.101544447A>T" "" "" "" "ABCC2(NM_000392.5):c.116A>T (p.Y39F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99784690A>T" "" "benign" "" "0000258845" "0" "10" "10" "101563815" "101563815" "subst" "0.191656" "02325" "ABCC2_000003" "g.101563815G>A" "" "" "" "ABCC2(NM_000392.5):c.1249G>A (p.V417I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99804058G>A" "" "benign" "" "0000258846" "0" "10" "10" "101604207" "101604207" "subst" "0.340947" "02325" "ABCC2_000004" "g.101604207C>T" "" "" "" "ABCC2(NM_000392.5):c.3972C>T (p.I1324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99844450C>T" "" "benign" "" "0000350801" "0" "90" "10" "101591889" "101591889" "subst" "7.31018E-5" "02327" "ABCC2_000005" "g.101591889G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99832132G>A" "" "pathogenic" "" "0000405936" "21" "90" "10" "101591889" "101591889" "subst" "7.31018E-5" "02552" "ABCC2_000005" "g.101591889G>A" "" "{PMID:Papuc 2019:30552426}" "" "" "RT-PCR showed skipping of exon 23" "Germline" "" "rs762243203" "0" "" "" "g.99832132G>A" "" "pathogenic" "" "0000405937" "11" "30" "10" "101578835" "101578835" "subst" "4.06339E-6" "02552" "ABCC2_000006" "g.101578835T>C" "" "{PMID:Papuc 2019:30552426}" "" "" "RT-PCR showed no abberrant splicing" "Germline" "" "" "0" "" "" "g.99819078T>C" "" "likely benign" "" "0000538852" "0" "30" "10" "101544490" "101544490" "subst" "0.0027658" "01943" "ABCC2_000008" "g.101544490A>G" "" "" "" "ABCC2(NM_000392.5):c.159A>G (p.K53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99784733A>G" "" "likely benign" "" "0000538853" "0" "30" "10" "101544490" "101544490" "subst" "0.0027658" "02326" "ABCC2_000008" "g.101544490A>G" "" "" "" "ABCC2(NM_000392.5):c.159A>G (p.K53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99784733A>G" "" "likely benign" "" "0000538854" "0" "30" "10" "101557063" "101557063" "subst" "0.00586101" "01804" "ABCC2_000009" "g.101557063G>A" "" "" "" "ABCC2(NM_000392.3):c.842G>A (p.(Ser281Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99797306G>A" "" "likely benign" "" "0000538855" "0" "30" "10" "101569935" "101569935" "subst" "0.00069484" "01943" "ABCC2_000010" "g.101569935T>A" "" "" "" "ABCC2(NM_000392.5):c.1860T>A (p.D620E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99810178T>A" "" "likely benign" "" "0000538856" "0" "50" "10" "101578644" "101578644" "subst" "0" "01804" "ABCC2_000012" "g.101578644C>T" "" "" "" "ABCC2(NM_000392.3):c.2369C>T (p.(Ala790Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99818887C>T" "" "VUS" "" "0000538858" "0" "30" "10" "101591744" "101591744" "subst" "0" "01943" "ABCC2_000014" "g.101591744G>A" "" "" "" "ABCC2(NM_000392.5):c.3114G>A (p.V1038=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99831987G>A" "" "likely benign" "" "0000538859" "0" "50" "10" "101591866" "101591866" "subst" "0.000609142" "01943" "ABCC2_000015" "g.101591866G>A" "" "" "" "ABCC2(NM_000392.5):c.3236G>A (p.R1079Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99832109G>A" "" "VUS" "" "0000578024" "0" "70" "10" "101571360" "101571360" "subst" "0.000834086" "03367" "ABCC2_000011" "g.101571360G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.99811603G>A" "" "likely pathogenic (recessive)" "" "0000578025" "0" "70" "10" "101578849" "101578849" "subst" "3.65717E-5" "03367" "ABCC2_000018" "g.101578849C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.99819092C>T" "" "likely pathogenic (recessive)" "" "0000578068" "0" "50" "10" "101591826" "101591826" "subst" "0.000442632" "01474" "ABCC2_000007" "g.101591826C>T" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "rs72558199" "0" "" "" "g.99832069C>T" "" "VUS" "" "0000578095" "0" "70" "10" "101591826" "101591826" "subst" "0.000442632" "01474" "ABCC2_000007" "g.101591826C>T" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "rs72558199" "0" "" "" "g.99832069C>T" "" "VUS" "" "0000601043" "11" "70" "10" "101594176" "101594176" "subst" "0.00010558" "03462" "ABCC2_000019" "g.101594176C>A" "" "{PMID:Wong 2019:31617323}, {DOI:Wong 2019:10.1002/mgg3.1007}" "" "" "" "Germline" "" "rs142715085" "0" "" "" "g.99834419C>A" "" "VUS" "" "0000612224" "0" "10" "10" "101563785" "101563785" "subst" "0.00215945" "02325" "ABCC2_000020" "g.101563785C>T" "" "" "" "ABCC2(NM_000392.5):c.1219C>T (p.L407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99804028C>T" "" "benign" "" "0000612225" "0" "90" "10" "101578577" "101578577" "subst" "9.34541E-5" "02325" "ABCC2_000022" "g.101578577C>T" "" "" "" "ABCC2(NM_000392.5):c.2302C>T (p.R768W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99818820C>T" "" "pathogenic" "" "0000622302" "0" "50" "10" "101565157" "101565157" "subst" "0.00408153" "01943" "ABCC2_000021" "g.101565157A>G" "" "" "" "ABCC2(NM_000392.5):c.1483A>G (p.K495E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99805400A>G" "" "VUS" "" "0000622303" "0" "30" "10" "101611277" "101611277" "subst" "0.00273393" "01943" "ABCC2_000023" "g.101611277C>T" "" "" "" "ABCC2(NM_000392.5):c.4527C>T (p.N1509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99851520C>T" "" "likely benign" "" "0000647819" "1" "50" "10" "101557063" "101557063" "subst" "0.00586101" "03575" "ABCC2_000009" "g.101557063G>A" "12/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 12 heterozygous; {DB:CLININrs56131651}" "Germline" "" "rs56131651" "0" "" "" "g.99797306G>A" "" "VUS" "" "0000647820" "1" "30" "10" "101560169" "101560169" "subst" "0.00385579" "03575" "ABCC2_000024" "g.101560169G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs7080681}" "Germline" "" "rs7080681" "0" "" "" "g.99800412G>A" "" "likely benign" "" "0000647821" "1" "30" "10" "101564012" "101564012" "subst" "0.010399" "03575" "ABCC2_000025" "g.101564012C>G" "9/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs113646094}" "Germline" "" "rs113646094" "0" "" "" "g.99804255C>G" "" "likely benign" "" "0000647822" "1" "10" "10" "101565157" "101565157" "subst" "0.00408153" "03575" "ABCC2_000021" "g.101565157A>G" "24/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous, no homozygous; {DB:CLININrs17222561}" "Germline" "" "rs17222561" "0" "" "" "g.99805400A>G" "" "benign" "" "0000647823" "1" "50" "10" "101578683" "101578683" "subst" "9.35028E-5" "03575" "ABCC2_000026" "g.101578683T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs148835620}" "Germline" "" "rs148835620" "0" "" "" "g.99818926T>C" "" "VUS" "" "0000647824" "1" "30" "10" "101578952" "101578952" "subst" "0.0155656" "03575" "ABCC2_000027" "g.101578952T>G" "30/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous, no homozygous; {DB:CLININrs17222617}" "Germline" "" "rs17222617" "0" "" "" "g.99819195T>G" "" "likely benign" "" "0000647825" "1" "90" "10" "101591385" "101591385" "subst" "2.03161E-5" "03575" "ABCC2_000028" "g.101591385C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs17222547}" "Germline" "" "rs17222547" "0" "" "" "g.99831628C>A" "" "pathogenic" "" "0000647826" "1" "50" "10" "101591866" "101591866" "subst" "0.000609142" "03575" "ABCC2_000015" "g.101591866G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs145672804}" "Germline" "" "rs145672804" "0" "" "" "g.99832109G>A" "" "VUS" "" "0000647827" "1" "90" "10" "101595882" "101595882" "subst" "9.74564E-5" "03575" "ABCC2_000029" "g.101595882G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs72558200}" "Germline" "" "rs72558200" "0" "" "" "g.99836125G>A" "" "pathogenic" "" "0000647828" "1" "30" "10" "101595975" "101595975" "subst" "0.0073702" "03575" "ABCC2_000030" "g.101595975G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs8187692}" "Germline" "" "rs8187692" "0" "" "" "g.99836218G>T" "" "likely benign" "" "0000647829" "1" "30" "10" "101611294" "101611294" "subst" "0.0521106" "03575" "ABCC2_000031" "g.101611294G>A" "74/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "74 heterozygous; {DB:CLININrs8187710}" "Germline" "" "rs8187710" "0" "" "" "g.99851537G>A" "" "likely benign" "" "0000669042" "3" "50" "10" "101557063" "101557063" "subst" "0.00586101" "03575" "ABCC2_000009" "g.101557063G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs56131651}" "Germline" "" "rs56131651" "0" "" "" "g.99797306G>A" "" "VUS" "" "0000669043" "3" "30" "10" "101611294" "101611294" "subst" "0.0521106" "03575" "ABCC2_000031" "g.101611294G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs8187710}" "Germline" "" "rs8187710" "0" "" "" "g.99851537G>A" "" "likely benign" "" "0000683201" "21" "90" "10" "101567988" "101567988" "subst" "4.06514E-6" "00006" "ABCC2_000033" "g.101567988T>A" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683202" "11" "90" "10" "101578577" "101578577" "subst" "9.34541E-5" "00006" "ABCC2_000022" "g.101578577C>T" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683213" "11" "90" "10" "101552081" "101552081" "subst" "3.65601E-5" "00006" "ABCC2_000032" "g.101552081C>T" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683215" "0" "90" "10" "101571361" "101571361" "subst" "0" "00006" "ABCC2_000034" "g.101571361T>C" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683217" "11" "90" "10" "101578577" "101578577" "subst" "9.34541E-5" "00006" "ABCC2_000022" "g.101578577C>T" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683218" "21" "70" "10" "101590607" "101590607" "subst" "1.63588E-5" "00006" "ABCC2_000036" "g.101590607A>G" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000683229" "21" "90" "10" "101578716" "101578716" "subst" "4.06719E-6" "00006" "ABCC2_000035" "g.101578716T>C" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683231" "0" "90" "10" "101578577" "101578577" "subst" "9.34541E-5" "00006" "ABCC2_000022" "g.101578577C>T" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000690622" "0" "30" "10" "101578867" "101578867" "subst" "8.53485E-5" "01943" "ABCC2_000037" "g.101578867A>G" "" "" "" "ABCC2(NM_000392.5):c.2461A>G (p.S821G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690623" "0" "90" "10" "101594193" "101594193" "subst" "4.06065E-6" "02325" "ABCC2_000038" "g.101594193C>A" "" "" "" "ABCC2(NM_000392.5):c.3315C>A (p.C1105*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690624" "0" "50" "10" "101595980" "101595980" "subst" "5.685E-5" "01943" "ABCC2_000039" "g.101595980C>A" "" "" "" "ABCC2(NM_000392.5):c.3547C>A (p.L1183M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722629" "0" "70" "10" "101577123" "101577123" "del" "0" "01943" "ABCC2_000040" "g.101577123del" "" "" "" "ABCC2(NM_000392.5):c.2153delA (p.N718Tfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804247" "0" "30" "10" "101554167" "101554167" "subst" "2.0329E-5" "02325" "ABCC2_000041" "g.101554167C>T" "" "" "" "ABCC2(NM_000392.5):c.577-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804248" "0" "30" "10" "101559004" "101559004" "subst" "3.25248E-5" "01943" "ABCC2_000042" "g.101559004A>G" "" "" "" "ABCC2(NM_000392.5):c.908A>G (p.K303R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804249" "0" "50" "10" "101567212" "101567212" "subst" "0.000126105" "01943" "ABCC2_000043" "g.101567212G>T" "" "" "" "ABCC2(NM_000392.5):c.1602G>T (p.K534N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804250" "0" "50" "10" "101578655" "101578655" "subst" "7.31499E-5" "01943" "ABCC2_000044" "g.101578655C>T" "" "" "" "ABCC2(NM_000392.5):c.2380C>T (p.H794Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804251" "0" "30" "10" "101591885" "101591885" "subst" "8.12229E-6" "01943" "ABCC2_000045" "g.101591885C>T" "" "" "" "ABCC2(NM_000392.5):c.3255C>T (p.A1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804252" "0" "30" "10" "101610393" "101610393" "subst" "0.000129955" "01943" "ABCC2_000046" "g.101610393G>T" "" "" "" "ABCC2(NM_000392.5):c.4348G>T (p.A1450S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852351" "0" "50" "10" "101601724" "101601724" "subst" "0" "01943" "ABCC2_000047" "g.101601724G>T" "" "" "" "ABCC2(NM_000392.5):c.3615G>T (p.R1205S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852352" "0" "30" "10" "101606861" "101606861" "subst" "0.0451502" "02326" "ABCC2_000048" "g.101606861G>T" "" "" "" "ABCC2(NM_000392.5):c.4290G>T (p.V1430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852353" "0" "30" "10" "101611250" "101611250" "subst" "0.00270617" "01943" "ABCC2_000049" "g.101611250T>C" "" "" "" "ABCC2(NM_000392.5):c.4509-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874681" "3" "70" "10" "101578967" "101578968" "del" "0" "00000" "ABCC2_000050" "g.101578967_101578968del" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "ABCC2,NM_000392.3,c.2561_2562del," "homozygous" "Unknown" "?" "" "0" "" "" "g.99819210_99819211del" "" "likely pathogenic" "ACMG" "0000888959" "0" "50" "10" "101590166" "101590166" "subst" "8.1217E-6" "02326" "ABCC2_000051" "g.101590166G>A" "" "" "" "ABCC2(NM_000392.5):c.2723G>A (p.S908N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913193" "0" "30" "10" "101610475" "101610475" "subst" "0.00123041" "02326" "ABCC2_000052" "g.101610475C>T" "" "" "" "ABCC2(NM_000392.5):c.4430C>T (p.T1477M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913194" "0" "30" "10" "101611318" "101611318" "subst" "0.00272898" "02326" "ABCC2_000053" "g.101611318A>C" "" "" "" "ABCC2(NM_000392.5):c.4568A>C (p.Q1523P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998042" "0" "50" "10" "101604076" "101604076" "del" "0" "01804" "ABCC2_000054" "g.101604076del" "" "" "" "ABCC2(NM_000392.3):c.3844-3delC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014579" "0" "50" "10" "101544467" "101544467" "subst" "2.43685E-5" "02325" "ABCC2_000055" "g.101544467T>C" "" "" "" "ABCC2(NM_000392.5):c.136T>C (p.W46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047426" "0" "50" "10" "101567206" "101567206" "subst" "0" "04866" "ABCC2_000056" "g.101567206G>A" "1/12 patients" "" "" "" "" "De novo" "-" "" "0" "" "" "g.99807449G>A" "" "VUS" "ACMG" ## 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 ABCC2 ## Count = 67 "{{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}}" "0000235010" "00001868" "50" "2714" "0" "2714" "0" "c.2714G>T" "r.(?)" "p.(Arg905Ile)" "20" "0000235462" "00001868" "50" "2714" "0" "2714" "0" "c.2714G>T" "r.(?)" "p.(Arg905Ile)" "20" "0000235467" "00001868" "50" "2714" "0" "2714" "0" "c.2714G>T" "r.(?)" "p.(Arg905Ile)" "20" "0000235468" "00001868" "50" "2714" "0" "2714" "0" "c.2714G>T" "r.(?)" "p.(Arg905Ile)" "20" "0000248952" "00001868" "10" "116" "0" "116" "0" "c.116=" "r.(=)" "p.(Phe39=)" "" "0000258845" "00001868" "10" "1249" "0" "1249" "0" "c.1249G>A" "r.(?)" "p.(Val417Ile)" "" "0000258846" "00001868" "10" "3972" "0" "3972" "0" "c.3972C>T" "r.(?)" "p.(Ile1324=)" "" "0000350801" "00001868" "90" "3258" "1" "3258" "1" "c.3258+1G>A" "r.spl?" "p.?" "" "0000405936" "00001868" "90" "3258" "1" "3258" "1" "c.3258+1G>A" "r.3104_3258del" "p.Ile1036Tyrfs*6" "23i" "0000405937" "00001868" "30" "2440" "-11" "2440" "-11" "c.2440-11T>C" "r.=" "p.=" "" "0000538852" "00001868" "30" "159" "0" "159" "0" "c.159A>G" "r.(?)" "p.(Lys53=)" "" "0000538853" "00001868" "30" "159" "0" "159" "0" "c.159A>G" "r.(?)" "p.(Lys53=)" "" "0000538854" "00001868" "30" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Ser281Asn)" "" "0000538855" "00001868" "30" "1860" "0" "1860" "0" "c.1860T>A" "r.(?)" "p.(Asp620Glu)" "" "0000538856" "00001868" "50" "2369" "0" "2369" "0" "c.2369C>T" "r.(?)" "p.(Ala790Val)" "" "0000538858" "00001868" "30" "3114" "0" "3114" "0" "c.3114G>A" "r.(?)" "p.(Val1038=)" "" "0000538859" "00001868" "50" "3236" "0" "3236" "0" "c.3236G>A" "r.(?)" "p.(Arg1079Gln)" "" "0000578024" "00001868" "70" "1967" "1" "1967" "1" "c.1967+1G>A" "r.spl" "p.?" "19" "0000578025" "00001868" "70" "2443" "0" "2443" "0" "c.2443C>T" "r.(?)" "p.(Arg815*)" "" "0000578068" "00001868" "00" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Arg1066*)" "" "0000578095" "00001868" "70" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Arg1066*)" "" "0000601043" "00001868" "70" "3298" "0" "3298" "0" "c.3298C>A" "r.(?)" "p.(Arg1100Ser)" "" "0000612224" "00001868" "10" "1219" "0" "1219" "0" "c.1219C>T" "r.(?)" "p.(Leu407=)" "" "0000612225" "00001868" "90" "2302" "0" "2302" "0" "c.2302C>T" "r.(?)" "p.(Arg768Trp)" "" "0000622302" "00001868" "50" "1483" "0" "1483" "0" "c.1483A>G" "r.(?)" "p.(Lys495Glu)" "" "0000622303" "00001868" "30" "4527" "0" "4527" "0" "c.4527C>T" "r.(?)" "p.(Asn1509=)" "" "0000647819" "00001868" "50" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Ser281Asn)" "" "0000647820" "00001868" "30" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353His)" "" "0000647821" "00001868" "30" "1446" "0" "1446" "0" "c.1446C>G" "r.(=)" "p.(=)" "" "0000647822" "00001868" "10" "1483" "0" "1483" "0" "c.1483A>G" "r.(?)" "p.(Lys495Glu)" "" "0000647823" "00001868" "50" "2408" "0" "2408" "0" "c.2408T>C" "r.(?)" "p.(Val803Ala)" "" "0000647824" "00001868" "30" "2546" "0" "2546" "0" "c.2546T>G" "r.(?)" "p.(Leu849Arg)" "" "0000647825" "00001868" "90" "2901" "0" "2901" "0" "c.2901C>A" "r.(?)" "p.(Tyr967*)" "" "0000647826" "00001868" "50" "3236" "0" "3236" "0" "c.3236G>A" "r.(?)" "p.(Arg1079Gln)" "" "0000647827" "00001868" "90" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Arg1150His)" "" "0000647828" "00001868" "30" "3542" "0" "3542" "0" "c.3542G>T" "r.(?)" "p.(Arg1181Leu)" "" "0000647829" "00001868" "30" "4544" "0" "4544" "0" "c.4544G>A" "r.(?)" "p.(Cys1515Tyr)" "" "0000669042" "00001868" "50" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Ser281Asn)" "" "0000669043" "00001868" "30" "4544" "0" "4544" "0" "c.4544G>A" "r.(?)" "p.(Cys1515Tyr)" "" "0000683201" "00001868" "90" "1815" "2" "1815" "2" "c.1815+2T>A" "r.spl" "p.?" "" "0000683202" "00001868" "90" "2302" "0" "2302" "0" "c.2302C>T" "r.(?)" "p.(Arg768Trp)" "" "0000683213" "00001868" "90" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Arg100*)" "" "0000683215" "00001868" "90" "1967" "2" "1967" "2" "c.1967+2T>C" "r.spl" "p.?" "" "0000683217" "00001868" "90" "2302" "0" "2302" "0" "c.2302C>T" "r.(?)" "p.(Arg768Trp)" "" "0000683218" "00001868" "70" "2882" "0" "2882" "0" "c.2882A>G" "r.spl" "p.?" "" "0000683229" "00001868" "90" "2439" "2" "2439" "2" "c.2439+2T>C" "r.spl" "p.?" "" "0000683231" "00001868" "90" "2302" "0" "2302" "0" "c.2302C>T" "r.(?)" "p.(Arg768Trp)" "" "0000690622" "00001868" "30" "2461" "0" "2461" "0" "c.2461A>G" "r.(?)" "p.(Ser821Gly)" "" "0000690623" "00001868" "90" "3315" "0" "3315" "0" "c.3315C>A" "r.(?)" "p.(Cys1105Ter)" "" "0000690624" "00001868" "50" "3547" "0" "3547" "0" "c.3547C>A" "r.(?)" "p.(Leu1183Met)" "" "0000722629" "00001868" "70" "2153" "0" "2153" "0" "c.2153del" "r.(?)" "p.(Asn718Thrfs*42)" "" "0000804247" "00001868" "30" "577" "-3" "577" "-3" "c.577-3C>T" "r.spl?" "p.?" "" "0000804248" "00001868" "30" "908" "0" "908" "0" "c.908A>G" "r.(?)" "p.(Lys303Arg)" "" "0000804249" "00001868" "50" "1602" "0" "1602" "0" "c.1602G>T" "r.(?)" "p.(Lys534Asn)" "" "0000804250" "00001868" "50" "2380" "0" "2380" "0" "c.2380C>T" "r.(?)" "p.(His794Tyr)" "" "0000804251" "00001868" "30" "3255" "0" "3255" "0" "c.3255C>T" "r.(?)" "p.(Ala1085=)" "" "0000804252" "00001868" "30" "4348" "0" "4348" "0" "c.4348G>T" "r.(?)" "p.(Ala1450Ser)" "" "0000852351" "00001868" "50" "3615" "0" "3615" "0" "c.3615G>T" "r.(?)" "p.(Arg1205Ser)" "" "0000852352" "00001868" "30" "4290" "0" "4290" "0" "c.4290G>T" "r.(?)" "p.(Val1430=)" "" "0000852353" "00001868" "30" "4509" "-9" "4509" "-9" "c.4509-9T>C" "r.(=)" "p.(=)" "" "0000874681" "00001868" "70" "2561" "0" "2562" "0" "c.2561_2562del" "r.(?)" "p.(Glu854Valfs*3)" "" "0000888959" "00001868" "50" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Ser908Asn)" "" "0000913193" "00001868" "30" "4430" "0" "4430" "0" "c.4430C>T" "r.(?)" "p.(Thr1477Met)" "" "0000913194" "00001868" "30" "4568" "0" "4568" "0" "c.4568A>C" "r.(?)" "p.(Gln1523Pro)" "" "0000998042" "00001868" "50" "3844" "-3" "3844" "-3" "c.3844-3del" "r.spl?" "p.?" "" "0001014579" "00001868" "50" "136" "0" "136" "0" "c.136T>C" "r.(?)" "p.(Trp46Arg)" "" "0001047426" "00001868" "50" "1596" "0" "1596" "0" "c.1596G>A" "r.(?)" "p.(Glu532=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000144540" "0000235010" "0000144648" "0000235462" "0000144650" "0000235467" "0000144651" "0000235468" "0000182108" "0000405936" "0000182108" "0000405937" "0000249278" "0000578024" "0000249278" "0000578025" "0000249316" "0000578068" "0000249338" "0000578095" "0000268176" "0000601043" "0000291130" "0000647819" "0000291131" "0000647820" "0000291132" "0000647821" "0000291133" "0000647822" "0000291134" "0000647823" "0000291135" "0000647824" "0000291136" "0000647825" "0000291137" "0000647826" "0000291138" "0000647827" "0000291139" "0000647828" "0000291140" "0000647829" "0000305354" "0000669042" "0000305355" "0000669043" "0000308789" "0000683201" "0000308789" "0000683217" "0000308790" "0000683202" "0000308790" "0000683218" "0000308801" "0000683213" "0000308801" "0000683229" "0000308803" "0000683215" "0000308803" "0000683231" "0000416553" "0000874681" "0000467986" "0001047426"