### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCB4) # 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}}" "ABCB4" "ATP-binding cassette, sub-family B (MDR/TAP), member 4" "7" "q21" "unknown" "NG_007118.1" "UD_132119170585" "" "http://www.LOVD.nl/ABCB4" "" "1" "45" "5244" "171060" "1" "1" "1" "1" "Alias: MDR3, PGY3\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ABCB4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-11-28 01:33:27" "00000" "2025-07-08 13:22:38" ## 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}}" "00024077" "ABCB4" "transcript variant B" "003" "NM_018849.2" "" "NP_061337.1" "" "" "" "-76" "3912" "3861" "87105019" "87031361" "00006" "2015-11-25 11:06:48" "" "" "00025770" "ABCB4" "transcript variant A" "002" "NM_000443.3" "" "NP_000434.1" "" "" "" "-76" "3891" "3840" "87105019" "87031361" "00006" "2022-12-18 12:13:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "02316" "GBD1;LPAC" "gallbladder disease, type 1 (GBD-1, cholelithiasis, low-phospholipid associated (LPAC))" "AD;AR" "600803" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02418" "PFIC3" "cholestasis, intrahepatic, familial, progressive, type 3 (PFIC-3)" "AR" "602347" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03801" "ICP3" "cholestasis, intrahepatic, of pregnancy, type 3 (ICP-3)" "AD;AR" "614972" "" "autosomal recessive, autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05432" "PFIC" "cholestasis, intrahepatic, familial, progressive (PFIC)" "" "" "" "" "" "00006" "2018-05-30 09:45:17" "00006" "2018-05-30 09:54:27" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ABCB4" "02316" "ABCB4" "02418" "ABCB4" "03801" "ABCB4" "05432" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00054818" "" "" "" "1" "" "00006" "{PMID:de Vree 1998:9419367}" "2-generation family, affected boy, unaffected heterozygous carrier parents" "M" "yes" "Turkey" ">06y" "0" "" "orthotopic liver transplantation" "" "" "00054819" "" "" "" "1" "" "00006" "{PMID:de Vree 1998:9419367}" "2-generation family, 1 affected, unaffected heterozygous carrier first-cousin parents" "M" "yes" "France" ">09y" "0" "" "liver transplantation" "African, north" "" "00054853" "" "" "" "5" "" "00006" "{PMID:Jacquemin 1999:9923886}, {DOI:Jacquemin 1999:10.1016/S0140-6736(05)77221-4}" "4-generation family, 1 affected, 2 unaffected heterozygous carrier males, 4 heterozygous carrier females" "F" "yes" "France" ">06y" "0" "" "liver transplantation" "" "" "00054854" "" "" "00054853" "4" "" "00006" "{PMID:Jacquemin 1999:9923886}, {DOI:Jacquemin 1999:10.1016/S0140-6736(05)77221-4}" "4 heterozygous carrier females" "F" "no" "France" "" "0" "" "" "" "" "00054855" "" "" "" "1" "" "00006" "{PMID:Dixon 2000:10767346}, {DOI:Dixon 2000:10.1093/hmg/9.8.1209}" "affected female" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00155227" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "Punjab" "29311637-Fam1" "00180939" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00181082" "" "" "" "1" "" "02320" "{PMID:Huynh 2019:30449124}" "" "F" "no" "" "" "0" "" "endoscopic biliary sphincterotomy, ursodeoxycholic acid treatment" "" "Pat1" "00181083" "" "" "" "1" "" "02320" "{PMID:Huynh 2019:30449124}" "" "F" "no" "" "" "0" "" "biliary sphincterotomy, cholecystectomy, ursodeoxycholic acid treatment" "" "Pat2" "00181085" "" "" "" "1" "" "02320" "{PMID:Huynh 2019:30449124}" "" "F" "no" "" "" "0" "" "Ursodeoxycholic acid treatment" "" "Pat4" "00181086" "" "" "" "1" "" "02320" "{PMID:Huynh 2019:30449124}" "" "F" "" "" "" "0" "" "ursodeoxycholic acid treatment" "" "Pat5" "00183337" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00226258" "" "" "" "1" "" "01741" "" "" "M" "" "Turkey" "" "0" "" "" "" "" "00228272" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00294507" "" "" "" "61" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305170" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307437" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam10PatLP85" "00307438" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam11PatLP130" "00416010" "" "" "" "1" "" "00006" "{PMID:Huynh 2019:30449124}" "" "" "" "" "" "0" "" "" "" "Pat3" "00427968" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A002" "00453355" "" "" "" "1" "" "00006" "{PMID:Shi 2024:39044225}" "" "" "" "China" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00054818" "02418" "00054819" "02418" "00054853" "02418" "00054854" "03801" "00054855" "03801" "00155227" "00259" "00181082" "03801" "00181083" "03801" "00181085" "02316" "00181086" "02316" "00226258" "02316" "00228272" "00198" "00294507" "00198" "00305170" "00198" "00307437" "05432" "00307438" "05432" "00416010" "02316" "00427968" "00198" "00453355" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00259, 02316, 02418, 03801, 05432 ## Count = 18 "{{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}}" "0000041472" "02418" "00054818" "00006" "Isolated (sporadic)" "" "3m-recurrent bouts of jaundice, presented with severe icterus, diarrhea, fever, pruritus; 3y-hepatosplenomegaly, elevated serum liver enzymes, increased γ-GT activity (6x), high serum bile acid concentration (50 x)., prothrombin time 0.50 (normal >0.70); liver biopsy revealed nonspecific portal inflammation, extensive portal fibrosis, cirrhosis, no response to UDCA treatment; 3.5y orthotopic liver transplantation for complications liver cirrhosis, extrahepatic bile ducts patent at time liver transplantation; 6y good clinical condition" "00y03m" "" "" "" "" "" "" "" "" "" "" "0000041473" "02418" "00054819" "00006" "Isolated (sporadic)" "" "8m recurrent episodes severe pruritus; 3y hepatosplenomegaly, strongly increased serum γ-GT activity (38x), increased serum bile acids (16x), serum aspartate and alanine aminotransferase activities mildly elevated, prothrombin time 0.10 (normalized after vitamin K1 injection); liver histology ductular proliferation, extensive portal fibrosis; cholangiography normal intra-/extrahepatic bile ducts; 4y-UDCA treatment ineffective, liver enzymes and liver histology further deteriorated toward end-stage liver disease with ascites and severe jaundice; 9y-liver transplantation, now good clinical condition" "00y08m" "" "" "" "" "" "" "" "" "" "" "0000041516" "02418" "00054853" "00006" "Isolated (sporadic)" "" "PFIC; 6y received liver graft" "" "" "" "" "" "" "" "" "" "" "" "0000041517" "03801" "00054854" "00006" "Familial, autosomal recessive" "" "at least one typical episode of intrahepatic\r\ncholestasis of pregnancy (pruritus,\r\nabnormal serum liver tests with cholestatic pattern third trimester) resulting in fetal deaths in 3 women and spontaneous and progressive disappearance of cholestasis after delivery" "" "" "" "" "" "" "" "" "" "" "" "0000041518" "03801" "00054855" "00006" "Isolated (sporadic)" "" "2 live births, 2 lost pregnancies; pruritus started 15w, fetal distress (meconium staining amniotic fluid or fetal heart rate abnormality); delivery 35w6d; max. levels ALT 163 U/l (<28), yGT 50 (<30), U/l BA 237 mM (<6)" "" "" "" "" "" "" "" "" "" "" "" "0000127755" "00259" "00155227" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity (BMI score ≥3)" "" "" "" "" "" "" "" "" "" "obesity" "" "0000143210" "00198" "00180939" "02551" "Unknown" "" "HP:0001081 (Cholelithiasis)" "" "" "" "" "" "" "" "" "" "" "" "0000143334" "03801" "00181082" "02320" "Familial, autosomal dominant" "" "ICP, endoscopic sphincterotomy, disturbance of liver function, intense pruritus, itching, ursodeoxycholic acid treatment" "34y" "" "" "" "" "" "" "" "Intrahepatic cholestasis of pregnancy" "Intrahepatic cholestasis of pregnancy" "" "0000143335" "03801" "00181083" "02320" "Familial, autosomal dominant" "21y" "ICP of 24 weeks of gestation, intense pruritus at night (trunk and lower limbs), elevated AST, ALT), bile acids of 50µmol/L. Mother had history of intrahepatic cholestasis of pregnancy. Intrahepatic microlithiasis on imaging, ursodeoxycholic acid treatment" "" "21y" "" "" "" "" "" "" "Intrahepatic cholestasis of pregnancy" "Intrahepatic cholestasis of pregnancy" "" "0000143337" "02316" "00181085" "02320" "Familial, autosomal dominant" "" "Multiple episodes of epigastric pain after meals, vomiting, nausea. Ultrasound: multiple intrahepatic microlithiasis, cholecystectomy, ursodeoxycholic acid treatment." "" "34y" "" "" "" "" "" "" "LPAC" "LPAC" "" "0000143338" "02316" "00181086" "02320" "Unknown" "23y" "symptomatic gallstone disease, cholecystectomy at the age of 24, epigastric pain radiating to the right hypochondrium, increased after meals. Increased level of transaminases and GGT. Ultrasound: comet-tails, moderate dilatation of intrahepatic bile ducts, ursodeoxycholic acid treatment" "" "23y" "" "" "" "" "" "" "LPAC" "LPAC" "" "0000144074" "00198" "00183337" "02551" "Unknown" "" "HP:0012115 (Hepatitis)" "" "" "" "" "" "" "" "" "" "" "" "0000171384" "02316" "00226258" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "LPAC-syndrome" "" "0000172203" "00198" "00228272" "01807" "Unknown" "" "Hepatic failure (HP:0001399); Cirrhosis (HP:0001394)" "" "" "" "" "" "" "" "" "" "" "" "0000233151" "05432" "00307437" "00006" "Familial, autosomal recessive" "10y" "liver cirrhosis" "" "" "" "" "" "" "" "" "" "progressive familial intrahepatic cholestasis" "" "0000233152" "05432" "00307438" "00006" "Familial, autosomal recessive" "20y" "characteristic phenotype (cholestatic liver disease)" "" "" "" "" "" "" "" "" "" "progressive familial intrahepatic cholestasis" "" "0000318914" "00198" "00427968" "00006" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "Cholestasis, progressive familial intrahepatic 3" "" "" "0000342018" "00198" "00453355" "00006" "Unknown" "16y" "see paper; ..., 13y-Becker muscular dystrophy; 16y-heart failure, atrial fibrillation; mild breath shortness/chest distress on exertion; treatment for cardiac dysfunction" "" "13y" "heart failure, atrial fibrillation" "" "" "" "" "" "BMD" "Becker muscular dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054767" "00054818" "1" "00006" "00006" "2015-11-25 11:19:59" "00006" "2015-11-25 11:51:55" "RT-PCR;SEQ;SSCA" "DNA;RNA" "liver biopsy" "" "0000054768" "00054819" "1" "00006" "00006" "2015-11-25 11:44:10" "" "" "RT-PCR;SEQ" "DNA;RNA" "liver biopsy" "" "0000054804" "00054853" "1" "00006" "00006" "2015-11-28 01:42:53" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000054805" "00054854" "1" "00006" "00006" "2015-11-28 01:51:14" "00006" "2015-11-28 01:54:21" "PCRdig;SEQ" "DNA" "" "" "0000054806" "00054855" "1" "00006" "00006" "2015-11-28 02:06:37" "" "" "SEQ" "DNA" "" "" "0000156091" "00155227" "1" "00006" "00006" "2018-03-18 13:02:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000181879" "00180939" "1" "02551" "02551" "2018-09-13 19:40:42" "" "" "SEQ" "DNA" "" "" "0000182031" "00181082" "1" "02320" "02320" "2018-09-24 18:22:26" "" "" "SEQ-NG-I" "RNA" "Blood lymphocytes" "" "0000182032" "00181083" "1" "02320" "02320" "2018-09-24 18:38:50" "" "" "SEQ-NG-I" "RNA" "Blood lymphocytes" "" "0000182034" "00181085" "1" "02320" "02320" "2018-09-24 19:38:43" "" "" "SEQ-NG-I" "RNA" "Blood lymphocytes" "" "0000182035" "00181086" "1" "02320" "02320" "2018-09-24 19:49:46" "" "" "SEQ-NG-I" "RNA" "Blood lymphocytes" "" "0000184298" "00183337" "1" "02551" "02551" "2018-10-23 15:09:28" "" "" "SEQ" "DNA" "" "" "0000229362" "00228272" "1" "01807" "01807" "2019-03-22 15:04:01" "" "" "SEQ" "DNA" "" "" "0000295675" "00294507" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306299" "00305170" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308576" "00307437" "1" "00006" "00006" "2020-08-13 16:04:48" "" "" "SEQ" "DNA" "" "" "0000308577" "00307438" "1" "00006" "00006" "2020-08-13 16:04:48" "" "" "SEQ" "DNA" "" "" "0000417290" "00416010" "1" "00006" "00006" "2022-08-21 13:00:34" "" "" "SEQ" "DNA" "" "" "0000422091" "00226258" "1" "01741" "01741" "2022-11-02 13:59:20" "01741" "2022-11-02 14:06:33" "MLPA" "DNA" "blood" "" "0000429381" "00427968" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "quad WES" "0000454966" "00453355" "1" "00006" "00006" "2024-08-19 13:48:25" "" "" "MLPA" "DNA" "" "SEQ" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000054767" "ABCB4" "0000054768" "ABCB4" "0000054804" "ABCB4" "0000054805" "ABCB4" "0000054806" "ABCB4" "0000182031" "ABCB4" "0000182032" "ABCB4" "0000182034" "ABCC4" "0000182035" "ABCB4" "0000308576" "ABCB4" "0000308577" "ABCB4" "0000417290" "ABCB4" "0000422091" "ABCB4" "0000454966" "DMD" ## 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 = 124 "{{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}}" "0000084777" "3" "99" "7" "87082397" "87082403" "del" "0" "00006" "ABCB4_000001" "g.87082397_87082403del" "" "{PMID:de Vree 1998:09419367}, {OMIM171060:0001}" "" "codon 132 TATATACdel" "antibody liver absence of canalicular staining" "Germline" "yes" "rs387906526" "0" "" "" "g.87453081_87453087del" "" "pathogenic" "" "0000084778" "0" "90" "7" "87041264" "87041264" "subst" "0" "00006" "ABCB4_000002" "g.87041264G>A" "" "{PMID:de Vree 1998:09419367}, {OMIM171060:0001}" "" "codon 957 C>T" "antibody liver absence of canalicular staining" "Germline" "yes" "rs121918440" "0" "" "" "g.87411948G>A" "" "pathogenic" "" "0000084817" "3" "90" "7" "87069002" "87069002" "del" "0" "00006" "ABCB4_000003" "g.87069002del" "" "{PMID:Jacquemin 1999:09923886}, {DOI:Jacquemin 1999:10.1016/S0140-6736(05)77221-4}, {OMIM171060:0003}" "TaqI-" "1712delT" "" "Germline" "yes" "rs387906527" "0" "" "" "g.87439686del" "" "pathogenic" "" "0000084818" "1" "90" "7" "87069002" "87069002" "del" "0" "00006" "ABCB4_000003" "g.87069002del" "" "{PMID:Jacquemin 1999:09923886}, {DOI:Jacquemin 1999:10.1016/S0140-6736(05)77221-4}, {OMIM171060:0003}" "TaqI-" "1712delT" "" "Germline" "yes" "" "0" "" "" "g.87439686del" "" "pathogenic" "" "0000084819" "0" "90" "7" "87069077" "87069077" "subst" "0" "00006" "ABCB4_000004" "g.87069077G>T" "1/8 cases" "{PMID:Dixon 2000:10767346}, {DOI:Dixon 2000:10.1093/hmg/9.8.1209}, {OMIM171060:0004}" "SexAI-" "" "expression cloning of variant introduced at equivalent position in ABCB1 (MDR1) shows disrupted protein trafficking with subsequent lack of functional protein at cell surface (FACS and Western blot)" "Germline" "" "rs121918441" "0" "" "" "g.87439761G>T" "" "pathogenic" "" "0000249119" "0" "10" "7" "87032613" "87032613" "subst" "0.873923" "02325" "ABCB4_000007" "g.87032613A>G" "" "" "" "ABCB4(NM_018849.3):c.3508-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87403297A>G" "" "benign" "" "0000252155" "0" "30" "7" "87060714" "87060714" "subst" "0.00234492" "02326" "ABCB4_000019" "g.87060714A>G" "" "" "" "ABCB4(NM_018849.2):c.1893+6T>C, ABCB4(NM_018849.3):c.1893+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87431398A>G" "" "likely benign" "" "0000258839" "0" "10" "7" "87092185" "87092185" "subst" "0.169402" "02325" "ABCB4_000026" "g.87092185G>A" "" "" "" "ABCB4(NM_018849.3):c.175C>T (p.L59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87462869G>A" "" "benign" "" "0000258840" "0" "10" "7" "87053206" "87053206" "subst" "0.897608" "02325" "ABCB4_000016" "g.87053206G>A" "" "" "" "ABCB4(NM_018849.3):c.2211+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87423890G>A" "" "benign" "" "0000258841" "0" "10" "7" "87082292" "87082292" "subst" "0.481946" "02325" "ABCB4_000025" "g.87082292G>A" "" "" "" "ABCB4(NM_018849.3):c.504C>T (p.N168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87452976G>A" "" "benign" "" "0000258842" "0" "10" "7" "87079406" "87079406" "subst" "0.207049" "02325" "ABCB4_000023" "g.87079406T>A" "" "" "" "ABCB4(NM_018849.3):c.711A>T (p.I237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87450090T>A" "" "benign" "" "0000259362" "0" "30" "7" "87035688" "87035688" "subst" "0.000215298" "02325" "ABCB4_000008" "g.87035688G>A" "" "" "" "ABCB4(NM_018849.3):c.3423C>T (p.D1141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87406372G>A" "" "likely benign" "" "0000259601" "0" "50" "7" "87056096" "87056096" "subst" "0" "02325" "ABCB4_000018" "g.87056096C>A" "" "" "" "ABCB4(NM_018849.3):c.2034G>T (p.Q678H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87426780C>A" "" "VUS" "" "0000259602" "0" "50" "7" "87031444" "87031444" "subst" "4.06246E-6" "02325" "ABCB4_000005" "g.87031444C>A" "" "" "" "ABCB4(NM_018849.3):c.3829G>T (p.V1277F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87402128C>A" "" "VUS" "" "0000260441" "0" "50" "7" "87072980" "87072980" "subst" "0" "02326" "ABCB4_000021" "g.87072980T>C" "" "" "" "ABCB4(NM_000443.4):c.1229A>G (p.K410R), ABCB4(NM_018849.3):c.1229A>G (p.K410R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87443664T>C" "" "VUS" "" "0000260442" "0" "90" "7" "87060720" "87060720" "subst" "0" "02326" "ABCB4_000020" "g.87060720C>G" "" "" "" "ABCB4(NM_018849.2):c.1893G>C (p.Q631H, p.(Gln631His)), ABCB4(NM_018849.3):c.1893G>C (p.Q631H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87431404C>G" "" "pathogenic" "" "0000260443" "0" "70" "7" "87053256" "87053256" "subst" "8.13273E-6" "02326" "ABCB4_000017" "g.87053256G>A" "" "" "" "ABCB4(NM_018849.3):c.2177C>T (p.P726L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87423940G>A" "" "likely pathogenic" "" "0000260444" "0" "10" "7" "87049345" "87049345" "subst" "0.00591473" "02326" "ABCB4_000015" "g.87049345C>T" "" "" "" "ABCB4(NM_018849.3):c.2363G>A (p.R788Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87420029C>T" "" "benign" "" "0000260445" "0" "30" "7" "87047954" "87047954" "subst" "3.66429E-5" "02326" "ABCB4_000014" "g.87047954C>T" "" "" "" "ABCB4(NM_000443.4):c.2395-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87418638C>T" "" "likely benign" "" "0000260446" "0" "30" "7" "87046836" "87046836" "subst" "0" "02326" "ABCB4_000013" "g.87046836G>A" "" "" "" "ABCB4(NM_018849.3):c.2479-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87417520G>A" "" "likely benign" "" "0000260447" "0" "50" "7" "87046803" "87046803" "subst" "0" "02326" "ABCB4_000012" "g.87046803G>T" "" "" "" "ABCB4(NM_018849.3):c.2507C>A (p.A836E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87417487G>T" "" "VUS" "" "0000260448" "0" "90" "7" "87032525" "87032525" "subst" "0" "02326" "ABCB4_000006" "g.87032525G>A" "" "" "" "ABCB4(NM_000443.4):c.3559C>T (p.R1187*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87403209G>A" "" "pathogenic" "" "0000260449" "0" "90" "7" "87076396" "87076396" "subst" "0.000158573" "02326" "ABCB4_000022" "g.87076396G>A" "" "" "" "ABCB4(NM_000443.4):c.959C>T (p.S320F), ABCB4(NM_018849.2):c.959C>T (p.S320F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87447080G>A" "" "pathogenic" "" "0000261645" "0" "30" "7" "87038596" "87038596" "subst" "0.00138216" "01943" "ABCB4_000009" "g.87038596T>G" "" "" "" "ABCB4(NM_018849.2):c.3037A>C (p.R1013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87409280T>G" "" "likely benign" "" "0000261646" "0" "10" "7" "87080951" "87080951" "subst" "0.000609687" "01943" "ABCB4_000024" "g.87080951G>A" "" "" "" "ABCB4(NM_018849.2):c.696C>T (p.A232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87451635G>A" "" "benign" "" "0000261647" "0" "70" "7" "87076396" "87076396" "subst" "0.000158573" "01943" "ABCB4_000022" "g.87076396G>A" "" "" "" "ABCB4(NM_000443.4):c.959C>T (p.S320F), ABCB4(NM_018849.2):c.959C>T (p.S320F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87447080G>A" "" "likely pathogenic" "" "0000348105" "0" "50" "7" "87041225" "87041225" "subst" "0" "02327" "ABCB4_000027" "g.87041225A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87411909A>G" "" "VUS" "" "0000351397" "0" "90" "7" "87056065" "87056065" "subst" "0" "02327" "ABCB4_000028" "g.87056065C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87426749C>G" "" "pathogenic" "" "0000357963" "3" "70" "7" "87083858" "87083858" "subst" "5.71853E-5" "00006" "ABCB4_000029" "g.87083858T>C" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "" "0" "" "" "g.87454542T>C" "" "likely pathogenic" "" "0000405573" "3" "50" "7" "87035611" "87035611" "subst" "0" "02551" "ABCB4_000030" "g.87035611A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.87406295A>G" "" "VUS" "" "0000405845" "1" "70" "7" "87072711" "87072711" "subst" "0" "02320" "ABCB4_000031" "g.87072711A>G" "" "{PMID:Huynh 2019:30449124}" "" "" "" "Germline" "yes" "" "0" "" "" "g.87443395A>G" "" "likely pathogenic" "" "0000405846" "1" "70" "7" "87046770" "87046770" "subst" "4.06633E-6" "02320" "ABCB4_000032" "g.87046770A>G" "0.00041%" "{PMID:Huynh 2019:30449124}" "" "" "" "Germline" "yes" "rs769944852" "0" "" "" "g.87417454A>G" "" "likely pathogenic" "" "0000405848" "1" "70" "7" "87060847" "87060847" "subst" "0" "02320" "ABCB4_000033" "g.87060847T>G" "" "{PMID:Huynh 2019:30449124}" "" "" "" "Germline" "?" "" "0" "" "" "g.87431531T>G" "" "likely pathogenic" "" "0000405849" "1" "70" "7" "87079285" "87079285" "subst" "0" "02320" "ABCB4_000034" "g.87079285T>C" "" "{PMID:Huynh 2019:30449124}" "" "" "" "Germline" "?" "" "0" "" "" "g.87449969T>C" "" "likely pathogenic" "" "0000408315" "0" "50" "7" "87032498" "87032500" "del" "0" "02551" "ABCB4_000035" "g.87032498_87032500del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.87403182_87403184del" "" "VUS" "" "0000470543" "3" "90" "7" "87069639" "87069639" "subst" "8.12975E-6" "01807" "ABCB4_000036" "g.87069639G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.87440323G>A" "" "pathogenic" "" "0000532842" "0" "50" "7" "87031484" "87031484" "subst" "0" "02325" "CROT_000001" "g.87031484A>T" "" "" "" "ABCB4(NM_018849.3):c.3789T>A (p.H1263Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87402168A>T" "" "VUS" "" "0000532843" "0" "30" "7" "87032541" "87032541" "subst" "0.000170574" "01943" "CROT_000002" "g.87032541C>T" "" "" "" "ABCB4(NM_018849.2):c.3564G>A (p.Q1188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87403225C>T" "" "likely benign" "" "0000532844" "0" "10" "7" "87032613" "87032613" "subst" "0.873923" "02327" "ABCB4_000007" "g.87032613A>G" "" "" "" "ABCB4(NM_018849.3):c.3508-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87403297A>G" "" "benign" "" "0000532845" "0" "10" "7" "87049345" "87049345" "subst" "0.00591473" "02325" "ABCB4_000015" "g.87049345C>T" "" "" "" "ABCB4(NM_018849.3):c.2363G>A (p.R788Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87420029C>T" "" "benign" "" "0000532846" "0" "50" "7" "87049384" "87049384" "subst" "0.000504122" "01943" "ABCB4_000050" "g.87049384G>A" "" "" "" "ABCB4(NM_000443.4):c.2324C>T (p.T775M), ABCB4(NM_018849.2):c.2324C>T (p.T775M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87420068G>A" "" "VUS" "" "0000532847" "0" "10" "7" "87053206" "87053206" "subst" "0.897608" "02327" "ABCB4_000016" "g.87053206G>A" "" "" "" "ABCB4(NM_018849.3):c.2211+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87423890G>A" "" "benign" "" "0000532848" "0" "10" "7" "87056192" "87056192" "subst" "0.00308878" "02325" "ABCB4_000051" "g.87056192A>G" "" "" "" "ABCB4(NM_018849.3):c.1938T>C (p.D646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87426876A>G" "" "benign" "" "0000532849" "0" "30" "7" "87060792" "87060792" "subst" "0.000312927" "01943" "ABCB4_000052" "g.87060792T>G" "" "" "" "ABCB4(NM_018849.2):c.1821A>C (p.V607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87431476T>G" "" "likely benign" "" "0000532850" "0" "30" "7" "87082273" "87082273" "subst" "0.0115509" "02326" "ABCB4_000053" "g.87082273T>C" "" "" "" "ABCB4(NM_018849.3):c.523A>G (p.T175A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87452957T>C" "" "likely benign" "" "0000532851" "0" "10" "7" "87082292" "87082292" "subst" "0.481946" "02327" "ABCB4_000025" "g.87082292G>A" "" "" "" "ABCB4(NM_018849.3):c.504C>T (p.N168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87452976G>A" "" "benign" "" "0000532852" "0" "90" "7" "87092220" "87092220" "subst" "8.54527E-5" "02325" "ABCB4_000054" "g.87092220C>T" "" "" "" "ABCB4(NM_018849.3):c.140G>A (p.R47Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87462904C>T" "" "pathogenic" "" "0000611239" "0" "70" "7" "87041333" "87041333" "subst" "0.000960294" "02327" "ABCB4_000055" "g.87041333C>T" "" "" "" "ABCB4(NM_018849.2):c.2800G>A (p.A934T), ABCB4(NM_018849.3):c.2800G>A (p.A934T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87412017C>T" "" "likely pathogenic" "" "0000611240" "0" "70" "7" "87041333" "87041333" "subst" "0.000960294" "02325" "ABCB4_000055" "g.87041333C>T" "" "" "" "ABCB4(NM_018849.2):c.2800G>A (p.A934T), ABCB4(NM_018849.3):c.2800G>A (p.A934T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87412017C>T" "" "likely pathogenic" "" "0000611241" "0" "10" "7" "87079406" "87079406" "subst" "0.207049" "02327" "ABCB4_000023" "g.87079406T>A" "" "" "" "ABCB4(NM_018849.3):c.711A>T (p.I237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87450090T>A" "" "benign" "" "0000611242" "0" "10" "7" "87092185" "87092185" "subst" "0.169402" "02327" "ABCB4_000026" "g.87092185G>A" "" "" "" "ABCB4(NM_018849.3):c.175C>T (p.L59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87462869G>A" "" "benign" "" "0000652364" "1" "30" "7" "87082273" "87082273" "subst" "0.0115509" "03575" "ABCB4_000053" "g.87082273T>C" "61/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "61 heterozygous; {DB:CLININrs58238559}" "Germline" "" "rs58238559" "0" "" "" "g.87452957T>C" "" "likely benign" "" "0000655896" "0" "30" "7" "87056192" "87056192" "subst" "0.00308878" "02326" "ABCB4_000051" "g.87056192A>G" "" "" "" "ABCB4(NM_018849.3):c.1938T>C (p.D646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87426876A>G" "" "likely benign" "" "0000655897" "0" "30" "7" "87060714" "87060714" "subst" "0.00234492" "01943" "ABCB4_000019" "g.87060714A>G" "" "" "" "ABCB4(NM_018849.2):c.1893+6T>C, ABCB4(NM_018849.3):c.1893+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87431398A>G" "" "likely benign" "" "0000669987" "3" "30" "7" "87082273" "87082273" "subst" "0.0115509" "03575" "ABCB4_000053" "g.87082273T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs58238559}" "Germline" "" "rs58238559" "0" "" "" "g.87452957T>C" "" "likely benign" "" "0000682977" "1" "70" "7" "87076396" "87076396" "subst" "0.000158573" "00006" "ABCB4_000022" "g.87076396G>A" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000682978" "1" "70" "7" "87076396" "87076396" "subst" "0.000158573" "00006" "ABCB4_000022" "g.87076396G>A" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000683001" "2" "70" "7" "87041264" "87041264" "subst" "0" "00006" "ABCB4_000002" "g.87041264G>A" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000683002" "2" "70" "7" "87069546" "87069546" "subst" "0.000191051" "00006" "ABCB4_000056" "g.87069546T>C" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000690085" "0" "30" "7" "87035596" "87035596" "dup" "0" "01943" "ABCB4_000057" "g.87035596dup" "" "" "" "ABCB4(NM_018849.2):c.3507+10dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690086" "0" "50" "7" "87041332" "87041332" "subst" "0" "01943" "ABCB4_000058" "g.87041332G>A" "" "" "" "ABCB4(NM_018849.2):c.2801C>T (p.A934V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690087" "0" "70" "7" "87060720" "87060720" "subst" "0" "01943" "ABCB4_000020" "g.87060720C>G" "" "" "" "ABCB4(NM_018849.2):c.1893G>C (p.Q631H, p.(Gln631His)), ABCB4(NM_018849.3):c.1893G>C (p.Q631H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690088" "0" "50" "7" "87060844" "87060844" "subst" "0.00449091" "01943" "ABCB4_000059" "g.87060844C>T" "" "" "" "ABCB4(NM_000443.4):c.1769G>A (p.R590Q), ABCB4(NM_018849.2):c.1769G>A (p.R590Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721573" "0" "90" "7" "87041242" "87041242" "del" "0" "02325" "ABCB4_000060" "g.87041242del" "" "" "" "ABCB4(NM_000443.4):c.2891delT (p.V964Gfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721574" "0" "70" "7" "87041273" "87041273" "subst" "8.1363E-6" "02329" "ABCB4_000010" "g.87041273C>T" "" "" "" "ABCB4(NM_018849.3):c.2860G>A (p.G954S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721575" "0" "50" "7" "87041282" "87041282" "subst" "0" "02329" "ABCB4_000011" "g.87041282A>G" "" "" "" "ABCB4(NM_018849.3):c.2851T>C (p.S951P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721576" "0" "30" "7" "87046732" "87046732" "subst" "0" "01943" "ABCB4_000061" "g.87046732G>A" "" "" "" "ABCB4(NM_018849.2):c.2578C>T (p.L860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721577" "0" "50" "7" "87046733" "87046733" "subst" "0" "01943" "ABCB4_000062" "g.87046733C>A" "" "" "" "ABCB4(NM_018849.2):c.2577G>T (p.L859F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721578" "0" "50" "7" "87053289" "87053289" "subst" "0.000557246" "02325" "ABCB4_000063" "g.87053289G>A" "" "" "" "ABCB4(NM_000443.4):c.2144C>T (p.T715I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721579" "0" "50" "7" "87056130" "87056130" "subst" "5.28593E-5" "02325" "ABCB4_000064" "g.87056130G>A" "" "" "" "ABCB4(NM_000443.4):c.2000C>T (p.T667I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721580" "0" "30" "7" "87072677" "87072677" "subst" "0.00475811" "01943" "ABCB4_000065" "g.87072677C>T" "" "" "" "ABCB4(NM_000443.4):c.1314G>A (p.T438=), ABCB4(NM_018849.2):c.1314G>A (p.T438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803268" "0" "50" "7" "87035755" "87035755" "subst" "0" "01943" "ABCB4_000066" "g.87035755A>T" "" "" "" "ABCB4(NM_018849.2):c.3356T>A (p.L1119H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803269" "0" "50" "7" "87072684" "87072684" "subst" "0" "02325" "ABCB4_000067" "g.87072684C>T" "" "" "" "ABCB4(NM_000443.4):c.1307G>A (p.S436N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803270" "0" "90" "7" "87074290" "87074290" "del" "0" "02327" "ABCB4_000068" "g.87074290del" "" "" "" "ABCB4(NM_000443.4):c.1015delT (p.S339Qfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803271" "0" "50" "7" "87079306" "87079306" "subst" "0" "02327" "ABCB4_000069" "g.87079306C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851681" "0" "50" "7" "87041333" "87041333" "subst" "0.000960294" "01943" "ABCB4_000055" "g.87041333C>T" "" "" "" "ABCB4(NM_018849.2):c.2800G>A (p.A934T), ABCB4(NM_018849.3):c.2800G>A (p.A934T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851682" "0" "50" "7" "87047903" "87047903" "subst" "0" "02325" "ABCB4_000071" "g.87047903T>A" "" "" "" "ABCB4(NM_000443.4):c.2428A>T (p.T810S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851683" "0" "30" "7" "87072625" "87072625" "subst" "0.000134085" "01943" "ABCB4_000073" "g.87072625T>C" "" "" "" "ABCB4(NM_018849.2):c.1356+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860933" "0" "50" "7" "87037381" "87037381" "subst" "0.000101647" "02327" "ABCB4_000070" "g.87037381C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860934" "0" "10" "7" "87056176" "87056176" "subst" "0.0993467" "02327" "ABCB4_000072" "g.87056176T>C" "" "" "" "ABCB4(NM_000443.4):c.1954A>G (p.R652G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860935" "0" "70" "7" "87072708" "87072708" "subst" "0" "02325" "ABCB4_000074" "g.87072708A>T" "" "" "" "ABCB4(NM_000443.4):c.1283T>A (p.V428D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000876915" "0" "70" "7" "87046770" "87046770" "subst" "4.06633E-6" "00006" "ABCB4_000032" "g.87046770A>G" "" "{PMID:Huynh 2019:30449124}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000876916" "0" "50" "7" "87092220" "87092220" "subst" "8.54527E-5" "00006" "ABCB4_000054" "g.87092220C>T" "" "{PMID:Huynh 2019:30449124}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000887995" "0" "50" "7" "87035680" "87035680" "subst" "3.24992E-5" "02325" "ABCB4_000076" "g.87035680C>T" "" "" "" "ABCB4(NM_000443.4):c.3410G>A (p.R1137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887996" "0" "50" "7" "87060844" "87060844" "subst" "0.00449091" "02325" "ABCB4_000059" "g.87060844C>T" "" "" "" "ABCB4(NM_000443.4):c.1769G>A (p.R590Q), ABCB4(NM_018849.2):c.1769G>A (p.R590Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887997" "0" "30" "7" "87072677" "87072677" "subst" "0.00475811" "02326" "ABCB4_000065" "g.87072677C>T" "" "" "" "ABCB4(NM_000443.4):c.1314G>A (p.T438=), ABCB4(NM_018849.2):c.1314G>A (p.T438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887998" "0" "50" "7" "87092080" "87092080" "subst" "4.06365E-5" "02325" "ABCB4_000077" "g.87092080A>G" "" "" "" "ABCB4(NM_000443.4):c.280T>C (p.F94L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896980" "0" "90" "7" "87046627" "87046832" "del" "0" "01741" "ABCB4_000075" "g.(87041350_87046627)_(87046832_87047852)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908854" "1" "70" "7" "87083849" "87083850" "ins" "0" "00006" "ABCB4_000081" "g.87083849_87083850insAA" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline" "" "" "0" "" "" "g.87454533_87454534insAA" "" "pathogenic (recessive)" "" "0000908925" "2" "70" "7" "87056063" "87056063" "subst" "0" "00006" "ABCB4_000080" "g.87056063T>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87426747T>A" "" "pathogenic (recessive)" "" "0000909150" "0" "70" "7" "87046654" "87046654" "del" "0" "03779" "ABCB4_000078" "g.87046654del" "" "" "" "" "" "Unknown" "" "rs1416715261" "0" "" "" "" "" "likely pathogenic" "" "0000909152" "0" "70" "7" "87053247" "87053247" "subst" "0" "03779" "ABCB4_000079" "g.87053247G>A" "" "" "" "" "" "Unknown" "" "rs970324585" "0" "" "" "" "" "likely pathogenic" "" "0000912801" "0" "90" "7" "87046801" "87046801" "subst" "0" "02326" "ABCB4_000082" "g.87046801G>A" "" "" "" "ABCB4(NM_000443.4):c.2509C>T (p.Q837*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912802" "0" "90" "7" "87069546" "87069546" "subst" "0.000191051" "02326" "ABCB4_000056" "g.87069546T>C" "" "" "" "ABCB4(NM_000443.4):c.1529A>G (p.N510S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000918278" "0" "70" "7" "87037381" "87037381" "subst" "0.000101647" "03779" "ABCB4_000070" "g.87037381C>T" "" "" "" "" "" "Unknown" "" "rs147171162" "0" "" "" "" "" "likely pathogenic" "" "0000918300" "0" "90" "7" "87037496" "87037496" "subst" "4.06838E-6" "03779" "ABCB4_000084" "g.87037496G>A" "" "" "" "" "" "Unknown" "" "rs759202962" "0" "" "" "" "" "pathogenic" "" "0000918954" "0" "70" "7" "87031414" "87031414" "subst" "0" "03779" "ABCB4_000083" "g.87031414A>G" "" "" "" "" "" "Unknown" "" "rs754770911" "0" "" "" "" "" "likely pathogenic" "" "0000919304" "0" "70" "7" "87069073" "87069073" "del" "0" "03779" "ABCB4_000085" "g.87069073del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000924763" "0" "90" "7" "87060720" "87060720" "subst" "0" "02327" "ABCB4_000020" "g.87060720C>G" "" "" "" "ABCB4(NM_018849.2):c.1893G>C (p.Q631H, p.(Gln631His)), ABCB4(NM_018849.3):c.1893G>C (p.Q631H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924764" "0" "90" "7" "87074290" "87074290" "del" "0" "02326" "ABCB4_000068" "g.87074290del" "" "" "" "ABCB4(NM_000443.4):c.1015delT (p.S339Qfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924765" "0" "50" "7" "87101932" "87101932" "subst" "4.06726E-6" "02326" "ABCB4_000086" "g.87101932C>A" "" "" "" "ABCB4(NM_000443.4):c.135+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927597" "0" "70" "7" "87072711" "87072711" "subst" "0" "03779" "ABCB4_000087" "g.87072711A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000927606" "0" "70" "7" "87076396" "87076396" "subst" "0.000158573" "03779" "ABCB4_000022" "g.87076396G>A" "" "" "" "" "" "Unknown" "" "rs72552778" "0" "" "" "" "" "likely pathogenic" "" "0000929380" "0" "50" "7" "87060742" "87060742" "subst" "0" "02326" "ABCB4_000088" "g.87060742T>G" "" "" "" "ABCB4(NM_000443.4):c.1871A>C (p.Y624S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929381" "0" "50" "7" "87072684" "87072684" "subst" "0" "02327" "ABCB4_000067" "g.87072684C>T" "" "" "" "ABCB4(NM_000443.4):c.1307G>A (p.S436N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931660" "0" "90" "7" "87069133" "87069134" "dup" "0" "03779" "ABCB4_000089" "g.87069133_87069134dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000931662" "0" "50" "7" "87074215" "87074215" "subst" "0" "03779" "ABCB4_000090" "g.87074215C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000948952" "0" "30" "7" "87038681" "87038681" "subst" "0.000796858" "02326" "ABCB4_000091" "g.87038681T>C" "" "" "" "ABCB4(NM_000443.4):c.2952A>G (p.A984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960338" "0" "70" "7" "87032548" "87032548" "del" "0" "03779" "ABCB4_000092" "g.87032548del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000960339" "0" "90" "7" "87046687" "87046691" "del" "0" "03779" "ABCB4_000093" "g.87046687_87046691del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000977870" "0" "50" "7" "87060799" "87060799" "subst" "0" "02327" "ABCB4_000094" "g.87060799T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977871" "0" "50" "7" "87079309" "87079309" "subst" "8.12995E-6" "01804" "ABCB4_000095" "g.87079309C>T" "" "" "" "ABCB4(NM_000443.4):c.808G>A (p.(Gly270Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985212" "0" "90" "7" "87104705" "87104705" "dup" "0" "03779" "ABCB4_000097" "g.87104705dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000985213" "0" "70" "7" "87049390" "87049390" "subst" "0" "03779" "ABCB4_000096" "g.87049390C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1554401811" "0" "" "" "" "" "likely pathogenic" "" "0000987935" "0" "70" "7" "87073002" "87073002" "subst" "0" "03779" "ABCB4_000098" "g.87073002A>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000989164" "0" "70" "7" "87037531" "87037531" "subst" "1.22221E-5" "03779" "ABCB4_000099" "g.87037531A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs780292654" "0" "" "" "" "" "likely pathogenic" "" "0000989928" "1" "70" "7" "87041219" "87041219" "subst" "0" "00006" "ABCB4_000100" "g.87041219C>D" "" "{PMID:Shi 2024:39044225}" "" "chr7:87041219" "variant suggested to be involved in amiodarone-induced hepatotoxicity" "Germline" "" "" "0" "" "" "g.87411903C>D" "" "likely pathogenic" "" "0000996705" "0" "50" "7" "87035773" "87035773" "subst" "0" "01804" "ABCB4_000101" "g.87035773T>A" "" "" "" "ABCB4(NM_018849.2):c.3338A>T (p.(Gln1113Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996706" "0" "30" "7" "87047846" "87047846" "subst" "2.84574E-5" "01804" "ABCB4_000102" "g.87047846T>C" "" "" "" "ABCB4(NM_000443.3):c.2478+7A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996707" "0" "50" "7" "87060720" "87060720" "subst" "0" "01804" "ABCB4_000020" "g.87060720C>G" "" "" "" "ABCB4(NM_018849.2):c.1893G>C (p.Q631H, p.(Gln631His)), ABCB4(NM_018849.3):c.1893G>C (p.Q631H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014382" "0" "10" "7" "87056176" "87056176" "subst" "0.0993467" "02326" "ABCB4_000072" "g.87056176T>C" "" "" "" "ABCB4(NM_000443.4):c.1954A>G (p.R652G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014383" "0" "70" "7" "87076396" "87076396" "subst" "0.000158573" "02325" "ABCB4_000022" "g.87076396G>A" "" "" "" "ABCB4(NM_000443.4):c.959C>T (p.S320F), ABCB4(NM_018849.2):c.959C>T (p.S320F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001019125" "0" "70" "7" "87069113" "87069113" "subst" "0" "03779" "ABCB4_000103" "g.87069113C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001046130" "0" "50" "7" "87049384" "87049384" "subst" "0.000504122" "02325" "ABCB4_000050" "g.87049384G>A" "" "" "" "ABCB4(NM_000443.4):c.2324C>T (p.T775M), ABCB4(NM_018849.2):c.2324C>T (p.T775M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ABCB4 ## Count = 210 "{{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}}" "0000084777" "00024077" "99" "394" "0" "400" "0" "c.394_400del" "r.394_400del" "p.Tyr132Lysfs*29" "6" "0000084778" "00024077" "99" "2869" "0" "2869" "0" "c.2869C>T" "r.2869c>u" "p.Arg957*" "23" "0000084817" "00024077" "90" "1712" "0" "1712" "0" "c.1712del" "r.1712del" "p.Val571Aspfs*16" "14" "0000084818" "00024077" "90" "1712" "0" "1712" "0" "c.1712del" "r.(?)" "p.(Val571Aspfs*16)" "14" "0000084819" "00024077" "90" "1637" "0" "1637" "0" "c.1637C>A" "r.(?)" "p.(Ala546Asp)" "14" "0000249119" "00024077" "10" "3508" "-16" "3508" "-16" "c.3508-16T>C" "r.(=)" "p.(=)" "" "0000249119" "00025770" "10" "3487" "-16" "3487" "-16" "c.3487-16T>C" "r.(=)" "p.(=)" "" "0000252155" "00024077" "30" "1893" "6" "1893" "6" "c.1893+6T>C" "r.(=)" "p.(=)" "" "0000252155" "00025770" "30" "1893" "6" "1893" "6" "c.1893+6T>C" "r.(=)" "p.(=)" "" "0000258839" "00024077" "10" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Leu59=)" "" "0000258839" "00025770" "10" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Leu59=)" "" "0000258840" "00024077" "10" "2211" "16" "2211" "16" "c.2211+16C>T" "r.(=)" "p.(=)" "" "0000258840" "00025770" "10" "2211" "16" "2211" "16" "c.2211+16C>T" "r.(=)" "p.(=)" "" "0000258841" "00024077" "10" "504" "0" "504" "0" "c.504C>T" "r.(?)" "p.(Asn168=)" "" "0000258841" "00025770" "10" "504" "0" "504" "0" "c.504C>T" "r.(?)" "p.(Asn168=)" "" "0000258842" "00024077" "10" "711" "0" "711" "0" "c.711A>T" "r.(?)" "p.(Ile237=)" "" "0000258842" "00025770" "10" "711" "0" "711" "0" "c.711A>T" "r.(?)" "p.(Ile237=)" "" "0000259362" "00024077" "30" "3423" "0" "3423" "0" "c.3423C>T" "r.(?)" "p.(Asp1141=)" "" "0000259362" "00025770" "30" "3402" "0" "3402" "0" "c.3402C>T" "r.(?)" "p.(Asp1134=)" "" "0000259601" "00024077" "50" "2034" "0" "2034" "0" "c.2034G>T" "r.(?)" "p.(Gln678His)" "" "0000259601" "00025770" "50" "2034" "0" "2034" "0" "c.2034G>T" "r.(?)" "p.(Gln678His)" "" "0000259602" "00024077" "50" "3829" "0" "3829" "0" "c.3829G>T" "r.(?)" "p.(Val1277Phe)" "" "0000259602" "00025770" "50" "3808" "0" "3808" "0" "c.3808G>T" "r.(?)" "p.(Val1270Phe)" "" "0000260441" "00024077" "50" "1229" "0" "1229" "0" "c.1229A>G" "r.(?)" "p.(Lys410Arg)" "" "0000260441" "00025770" "50" "1229" "0" "1229" "0" "c.1229A>G" "r.(?)" "p.(Lys410Arg)" "" "0000260442" "00024077" "90" "1893" "0" "1893" "0" "c.1893G>C" "r.(?)" "p.(Gln631His)" "" "0000260442" "00025770" "90" "1893" "0" "1893" "0" "c.1893G>C" "r.(?)" "p.(Gln631His)" "" "0000260443" "00024077" "70" "2177" "0" "2177" "0" "c.2177C>T" "r.(?)" "p.(Pro726Leu)" "" "0000260443" "00025770" "70" "2177" "0" "2177" "0" "c.2177C>T" "r.(?)" "p.(Pro726Leu)" "" "0000260444" "00024077" "10" "2363" "0" "2363" "0" "c.2363G>A" "r.(?)" "p.(Arg788Gln)" "" "0000260444" "00025770" "10" "2363" "0" "2363" "0" "c.2363G>A" "r.(?)" "p.(Arg788Gln)" "" "0000260445" "00024077" "30" "2395" "-18" "2395" "-18" "c.2395-18G>A" "r.(=)" "p.(=)" "" "0000260445" "00025770" "30" "2395" "-18" "2395" "-18" "c.2395-18G>A" "r.(=)" "p.(=)" "" "0000260446" "00024077" "30" "2479" "-5" "2479" "-5" "c.2479-5C>T" "r.spl?" "p.?" "" "0000260446" "00025770" "30" "2479" "-5" "2479" "-5" "c.2479-5C>T" "r.spl?" "p.?" "" "0000260447" "00024077" "50" "2507" "0" "2507" "0" "c.2507C>A" "r.(?)" "p.(Ala836Glu)" "" "0000260447" "00025770" "50" "2507" "0" "2507" "0" "c.2507C>A" "r.(?)" "p.(Ala836Glu)" "" "0000260448" "00024077" "90" "3580" "0" "3580" "0" "c.3580C>T" "r.(?)" "p.(Arg1194Ter)" "" "0000260448" "00025770" "90" "3559" "0" "3559" "0" "c.3559C>T" "r.(?)" "p.(Arg1187Ter)" "" "0000260449" "00024077" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000260449" "00025770" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000261645" "00024077" "30" "3037" "0" "3037" "0" "c.3037A>C" "r.(?)" "p.(Arg1013=)" "" "0000261645" "00025770" "30" "3037" "0" "3037" "0" "c.3037A>C" "r.(?)" "p.(Arg1013=)" "" "0000261646" "00024077" "10" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(Ala232=)" "" "0000261646" "00025770" "10" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(Ala232=)" "" "0000261647" "00024077" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000261647" "00025770" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000348105" "00024077" "50" "2908" "0" "2908" "0" "c.2908T>C" "r.(?)" "p.(Phe970Leu)" "" "0000348105" "00025770" "50" "2908" "0" "2908" "0" "c.2908T>C" "r.(?)" "p.(Phe970Leu)" "" "0000351397" "00024077" "90" "2064" "1" "2064" "1" "c.2064+1G>C" "r.spl?" "p.?" "" "0000351397" "00025770" "90" "2064" "1" "2064" "1" "c.2064+1G>C" "r.spl?" "p.?" "" "0000357963" "00024077" "00" "337" "0" "337" "0" "c.337A>G" "r.(?)" "p.(Met113Val)" "" "0000357963" "00025770" "70" "337" "0" "337" "0" "c.337A>G" "r.(?)" "p.(Met113Val)" "" "0000405573" "00024077" "50" "3500" "0" "3500" "0" "c.3500T>C" "r.(?)" "p.(Leu1167Ser)" "" "0000405845" "00024077" "70" "1280" "0" "1280" "0" "c.1280T>C" "r.(?)" "p.(Leu427Pro)" "" "0000405846" "00024077" "70" "2540" "0" "2540" "0" "c.2540T>C" "r.(?)" "p.(Ile847Thr)" "" "0000405848" "00024077" "70" "1766" "0" "1766" "0" "c.1766A>C" "r.(?)" "p.(His589Pro)" "" "0000405849" "00024077" "70" "832" "0" "832" "0" "c.832A>G" "r.(?)" "p.(Arg278Gly)" "" "0000408315" "00024077" "50" "3609" "0" "3611" "0" "c.3609_3611del" "r.(?)" "p.(Leu1205del)" "" "0000470543" "00024077" "90" "1436" "0" "1436" "0" "c.1436C>T" "r.(?)" "p.(Pro479Leu)" "" "0000532842" "00024077" "50" "3789" "0" "3789" "0" "c.3789T>A" "r.(?)" "p.(His1263Gln)" "" "0000532842" "00025770" "50" "3768" "0" "3768" "0" "c.3768T>A" "r.(?)" "p.(His1256Gln)" "" "0000532843" "00024077" "30" "3564" "0" "3564" "0" "c.3564G>A" "r.(?)" "p.(Gln1188=)" "" "0000532843" "00025770" "30" "3543" "0" "3543" "0" "c.3543G>A" "r.(?)" "p.(Gln1181=)" "" "0000532844" "00024077" "10" "3508" "-16" "3508" "-16" "c.3508-16T>C" "r.(=)" "p.(=)" "" "0000532844" "00025770" "10" "3487" "-16" "3487" "-16" "c.3487-16T>C" "r.(=)" "p.(=)" "" "0000532845" "00024077" "10" "2363" "0" "2363" "0" "c.2363G>A" "r.(?)" "p.(Arg788Gln)" "" "0000532845" "00025770" "10" "2363" "0" "2363" "0" "c.2363G>A" "r.(?)" "p.(Arg788Gln)" "" "0000532846" "00024077" "50" "2324" "0" "2324" "0" "c.2324C>T" "r.(?)" "p.(Thr775Met)" "" "0000532846" "00025770" "50" "2324" "0" "2324" "0" "c.2324C>T" "r.(?)" "p.(Thr775Met)" "" "0000532847" "00024077" "10" "2211" "16" "2211" "16" "c.2211+16C>T" "r.(=)" "p.(=)" "" "0000532847" "00025770" "10" "2211" "16" "2211" "16" "c.2211+16C>T" "r.(=)" "p.(=)" "" "0000532848" "00024077" "10" "1938" "0" "1938" "0" "c.1938T>C" "r.(?)" "p.(Asp646=)" "" "0000532848" "00025770" "10" "1938" "0" "1938" "0" "c.1938T>C" "r.(?)" "p.(Asp646=)" "" "0000532849" "00024077" "30" "1821" "0" "1821" "0" "c.1821A>C" "r.(?)" "p.(Val607=)" "" "0000532849" "00025770" "30" "1821" "0" "1821" "0" "c.1821A>C" "r.(?)" "p.(Val607=)" "" "0000532850" "00024077" "30" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Thr175Ala)" "" "0000532850" "00025770" "30" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Thr175Ala)" "" "0000532851" "00024077" "10" "504" "0" "504" "0" "c.504C>T" "r.(?)" "p.(Asn168=)" "" "0000532851" "00025770" "10" "504" "0" "504" "0" "c.504C>T" "r.(?)" "p.(Asn168=)" "" "0000532852" "00024077" "90" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47Gln)" "" "0000532852" "00025770" "90" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47Gln)" "" "0000611239" "00024077" "70" "2800" "0" "2800" "0" "c.2800G>A" "r.(?)" "p.(Ala934Thr)" "" "0000611239" "00025770" "70" "2800" "0" "2800" "0" "c.2800G>A" "r.(?)" "p.(Ala934Thr)" "" "0000611240" "00024077" "70" "2800" "0" "2800" "0" "c.2800G>A" "r.(?)" "p.(Ala934Thr)" "" "0000611240" "00025770" "70" "2800" "0" "2800" "0" "c.2800G>A" "r.(?)" "p.(Ala934Thr)" "" "0000611241" "00024077" "10" "711" "0" "711" "0" "c.711A>T" "r.(?)" "p.(Ile237=)" "" "0000611241" "00025770" "10" "711" "0" "711" "0" "c.711A>T" "r.(?)" "p.(Ile237=)" "" "0000611242" "00024077" "10" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Leu59=)" "" "0000611242" "00025770" "10" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Leu59=)" "" "0000652364" "00024077" "30" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Thr175Ala)" "" "0000652364" "00025770" "30" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Thr175Ala)" "" "0000655896" "00024077" "30" "1938" "0" "1938" "0" "c.1938T>C" "r.(?)" "p.(Asp646=)" "" "0000655896" "00025770" "30" "1938" "0" "1938" "0" "c.1938T>C" "r.(?)" "p.(Asp646=)" "" "0000655897" "00024077" "30" "1893" "6" "1893" "6" "c.1893+6T>C" "r.(=)" "p.(=)" "" "0000655897" "00025770" "30" "1893" "6" "1893" "6" "c.1893+6T>C" "r.(=)" "p.(=)" "" "0000669987" "00024077" "30" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Thr175Ala)" "" "0000669987" "00025770" "30" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Thr175Ala)" "" "0000682977" "00024077" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000682978" "00024077" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000683001" "00024077" "70" "2869" "0" "2869" "0" "c.2869C>T" "r.(?)" "p.(Arg957*)" "" "0000683002" "00024077" "70" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Arg957*)" "" "0000690085" "00024077" "30" "3507" "10" "3507" "10" "c.3507+10dup" "r.(=)" "p.(=)" "" "0000690085" "00025770" "30" "3486" "10" "3486" "10" "c.3486+10dup" "r.(=)" "p.(=)" "" "0000690086" "00024077" "50" "2801" "0" "2801" "0" "c.2801C>T" "r.(?)" "p.(Ala934Val)" "" "0000690086" "00025770" "50" "2801" "0" "2801" "0" "c.2801C>T" "r.(?)" "p.(Ala934Val)" "" "0000690087" "00024077" "70" "1893" "0" "1893" "0" "c.1893G>C" "r.(?)" "p.(Gln631His)" "" "0000690087" "00025770" "70" "1893" "0" "1893" "0" "c.1893G>C" "r.(?)" "p.(Gln631His)" "" "0000690088" "00024077" "50" "1769" "0" "1769" "0" "c.1769G>A" "r.(?)" "p.(Arg590Gln)" "" "0000690088" "00025770" "50" "1769" "0" "1769" "0" "c.1769G>A" "r.(?)" "p.(Arg590Gln)" "" "0000721573" "00024077" "90" "2891" "0" "2891" "0" "c.2891del" "r.(?)" "p.(Val964Glyfs*24)" "" "0000721573" "00025770" "90" "2891" "0" "2891" "0" "c.2891del" "r.(?)" "p.(Val964Glyfs*24)" "" "0000721574" "00024077" "70" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Gly954Ser)" "" "0000721574" "00025770" "70" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Gly954Ser)" "" "0000721575" "00024077" "50" "2851" "0" "2851" "0" "c.2851T>C" "r.(?)" "p.(Ser951Pro)" "" "0000721575" "00025770" "50" "2851" "0" "2851" "0" "c.2851T>C" "r.(?)" "p.(Ser951Pro)" "" "0000721576" "00024077" "30" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Leu860=)" "" "0000721576" "00025770" "30" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Leu860=)" "" "0000721577" "00024077" "50" "2577" "0" "2577" "0" "c.2577G>T" "r.(?)" "p.(Leu859Phe)" "" "0000721577" "00025770" "50" "2577" "0" "2577" "0" "c.2577G>T" "r.(?)" "p.(Leu859Phe)" "" "0000721578" "00024077" "50" "2144" "0" "2144" "0" "c.2144C>T" "r.(?)" "p.(Thr715Ile)" "" "0000721578" "00025770" "50" "2144" "0" "2144" "0" "c.2144C>T" "r.(?)" "p.(Thr715Ile)" "" "0000721579" "00024077" "50" "2000" "0" "2000" "0" "c.2000C>T" "r.(?)" "p.(Thr667Ile)" "" "0000721579" "00025770" "50" "2000" "0" "2000" "0" "c.2000C>T" "r.(?)" "p.(Thr667Ile)" "" "0000721580" "00024077" "30" "1314" "0" "1314" "0" "c.1314G>A" "r.(?)" "p.(Thr438=)" "" "0000721580" "00025770" "30" "1314" "0" "1314" "0" "c.1314G>A" "r.(?)" "p.(Thr438=)" "" "0000803268" "00024077" "50" "3356" "0" "3356" "0" "c.3356T>A" "r.(?)" "p.(Leu1119His)" "" "0000803268" "00025770" "50" "3335" "0" "3335" "0" "c.3335T>A" "r.(?)" "p.(Leu1112His)" "" "0000803269" "00024077" "50" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Ser436Asn)" "" "0000803269" "00025770" "50" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Ser436Asn)" "" "0000803270" "00024077" "90" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Ser339Glnfs*3)" "" "0000803270" "00025770" "90" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Ser339Glnfs*3)" "" "0000803271" "00024077" "50" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Gly271Ser)" "" "0000803271" "00025770" "50" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Gly271Ser)" "" "0000851681" "00024077" "50" "2800" "0" "2800" "0" "c.2800G>A" "r.(?)" "p.(Ala934Thr)" "" "0000851681" "00025770" "50" "2800" "0" "2800" "0" "c.2800G>A" "r.(?)" "p.(Ala934Thr)" "" "0000851682" "00024077" "50" "2428" "0" "2428" "0" "c.2428A>T" "r.(?)" "p.(Thr810Ser)" "" "0000851682" "00025770" "50" "2428" "0" "2428" "0" "c.2428A>T" "r.(?)" "p.(Thr810Ser)" "" "0000851683" "00024077" "30" "1356" "10" "1356" "10" "c.1356+10A>G" "r.(=)" "p.(=)" "" "0000851683" "00025770" "30" "1356" "10" "1356" "10" "c.1356+10A>G" "r.(=)" "p.(=)" "" "0000860933" "00024077" "50" "3251" "0" "3251" "0" "c.3251G>A" "r.(?)" "p.(Arg1084Gln)" "" "0000860933" "00025770" "50" "3251" "0" "3251" "0" "c.3251G>A" "r.(?)" "p.(Arg1084Gln)" "" "0000860934" "00024077" "10" "1954" "0" "1954" "0" "c.1954A>G" "r.(?)" "p.(Arg652Gly)" "" "0000860934" "00025770" "10" "1954" "0" "1954" "0" "c.1954A>G" "r.(?)" "p.(Arg652Gly)" "" "0000860935" "00024077" "70" "1283" "0" "1283" "0" "c.1283T>A" "r.(?)" "p.(Val428Asp)" "" "0000860935" "00025770" "70" "1283" "0" "1283" "0" "c.1283T>A" "r.(?)" "p.(Val428Asp)" "" "0000876915" "00024077" "70" "2540" "0" "2540" "0" "c.2540T>C" "r.(?)" "p.(Ile847Thr)" "" "0000876916" "00024077" "50" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47Gln)" "" "0000887995" "00024077" "50" "3431" "0" "3431" "0" "c.3431G>A" "r.(?)" "p.(Arg1144Gln)" "" "0000887995" "00025770" "50" "3410" "0" "3410" "0" "c.3410G>A" "r.(?)" "p.(Arg1137Gln)" "" "0000887996" "00024077" "50" "1769" "0" "1769" "0" "c.1769G>A" "r.(?)" "p.(Arg590Gln)" "" "0000887996" "00025770" "50" "1769" "0" "1769" "0" "c.1769G>A" "r.(?)" "p.(Arg590Gln)" "" "0000887997" "00024077" "30" "1314" "0" "1314" "0" "c.1314G>A" "r.(?)" "p.(Thr438=)" "" "0000887997" "00025770" "30" "1314" "0" "1314" "0" "c.1314G>A" "r.(?)" "p.(Thr438=)" "" "0000887998" "00024077" "50" "280" "0" "280" "0" "c.280T>C" "r.(?)" "p.(Phe94Leu)" "" "0000887998" "00025770" "50" "280" "0" "280" "0" "c.280T>C" "r.(?)" "p.(Phe94Leu)" "" "0000896980" "00024077" "90" "2479" "-1" "2682" "1" "c.(2478+1_2479-1)_(2682+1_2784-1)del" "r.?" "(p.Ala827Glufs*14)" "20i_21i" "0000908854" "00025770" "70" "344" "2" "344" "3" "c.344+2_344+3insTT" "r.287_344del" "p.Val96Aspfs*48" "" "0000908925" "00025770" "70" "2064" "3" "2064" "3" "c.2064+3A>T" "r.1894_2064del" "p.Thr632_Leu688del" "" "0000909150" "00025770" "70" "2661" "0" "2661" "0" "c.2661del" "r.(?)" "p.(Glu888AsnfsTer13)" "" "0000909152" "00025770" "70" "2186" "0" "2186" "0" "c.2186C>T" "r.(?)" "p.(Ser729Leu)" "" "0000912801" "00024077" "90" "2509" "0" "2509" "0" "c.2509C>T" "r.(?)" "p.(Gln837*)" "" "0000912801" "00025770" "90" "2509" "0" "2509" "0" "c.2509C>T" "r.(?)" "p.(Gln837*)" "" "0000912802" "00024077" "90" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Asn510Ser)" "" "0000912802" "00025770" "90" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Asn510Ser)" "" "0000918278" "00025770" "70" "3251" "0" "3251" "0" "c.3251G>A" "r.(?)" "p.(Arg1084Gln)" "" "0000918300" "00025770" "90" "3136" "0" "3136" "0" "c.3136C>T" "r.(?)" "p.(Arg1046Ter)" "" "0000918954" "00025770" "70" "3838" "0" "3838" "0" "c.3838T>C" "r.(?)" "p.(Ter1280ArgextTer19)" "" "0000919304" "00025770" "70" "1642" "0" "1642" "0" "c.1642del" "r.(?)" "p.(Val548PhefsTer39)" "" "0000924763" "00024077" "90" "1893" "0" "1893" "0" "c.1893G>C" "r.(?)" "p.(Gln631His)" "" "0000924763" "00025770" "90" "1893" "0" "1893" "0" "c.1893G>C" "r.(?)" "p.(Gln631His)" "" "0000924764" "00024077" "90" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Ser339Glnfs*3)" "" "0000924764" "00025770" "90" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Ser339Glnfs*3)" "" "0000924765" "00024077" "50" "135" "5" "135" "5" "c.135+5G>T" "r.spl?" "p.?" "" "0000924765" "00025770" "50" "135" "5" "135" "5" "c.135+5G>T" "r.spl?" "p.?" "" "0000927597" "00025770" "70" "1280" "0" "1280" "0" "c.1280T>G" "r.(?)" "p.(Leu427Arg)" "" "0000927606" "00025770" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000929380" "00024077" "50" "1871" "0" "1871" "0" "c.1871A>C" "r.(?)" "p.(Tyr624Ser)" "" "0000929380" "00025770" "50" "1871" "0" "1871" "0" "c.1871A>C" "r.(?)" "p.(Tyr624Ser)" "" "0000929381" "00024077" "50" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Ser436Asn)" "" "0000929381" "00025770" "50" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Ser436Asn)" "" "0000931660" "00025770" "90" "1587" "0" "1588" "0" "c.1587_1588dup" "r.(?)" "p.(Gly530GlufsTer5)" "" "0000931662" "00025770" "50" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Arg361Lys)" "" "0000948952" "00024077" "30" "2952" "0" "2952" "0" "c.2952A>G" "r.(?)" "p.(=)" "" "0000948952" "00025770" "30" "2952" "0" "2952" "0" "c.2952A>G" "r.(?)" "p.(=)" "" "0000960338" "00025770" "70" "3540" "0" "3540" "0" "c.3540del" "r.(?)" "p.(Lys1180AsnfsTer49)" "" "0000960339" "00025770" "90" "2625" "0" "2629" "0" "c.2625_2629del" "r.(?)" "p.(Met875IlefsTer10)" "" "0000977870" "00024077" "50" "1814" "0" "1814" "0" "c.1814A>T" "r.(?)" "p.(Asp605Val)" "" "0000977870" "00025770" "50" "1814" "0" "1814" "0" "c.1814A>T" "r.(?)" "p.(Asp605Val)" "" "0000977871" "00024077" "50" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Gly270Arg)" "" "0000977871" "00025770" "50" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Gly270Arg)" "" "0000985212" "00025770" "90" "77" "0" "77" "0" "c.77dup" "r.(?)" "p.(Ser26ArgfsTer29)" "" "0000985213" "00025770" "70" "2318" "0" "2318" "0" "c.2318G>T" "r.(?)" "p.(Gly773Val)" "" "0000987935" "00025770" "70" "1207" "0" "1207" "0" "c.1207T>G" "r.(?)" "p.(Tyr403Asp)" "" "0000989164" "00025770" "70" "3101" "0" "3101" "0" "c.3101T>C" "r.(?)" "p.(Ile1034Thr)" "" "0000989928" "00024077" "70" "2914" "0" "2914" "0" "c.2914G>H" "r.?" "p.?" "" "0000989928" "00025770" "70" "2914" "0" "2914" "0" "c.2914G>H" "r.?" "p.?" "" "0000996705" "00024077" "50" "3338" "0" "3338" "0" "c.3338A>T" "r.(?)" "p.(Gln1113Leu)" "" "0000996705" "00025770" "50" "3317" "0" "3317" "0" "c.3317A>T" "r.(?)" "p.(Gln1106Leu)" "" "0000996706" "00024077" "30" "2478" "7" "2478" "7" "c.2478+7A>G" "r.(=)" "p.(=)" "" "0000996706" "00025770" "30" "2478" "7" "2478" "7" "c.2478+7A>G" "r.(=)" "p.(=)" "" "0000996707" "00024077" "50" "1893" "0" "1893" "0" "c.1893G>C" "r.(?)" "p.(Gln631His)" "" "0000996707" "00025770" "50" "1893" "0" "1893" "0" "c.1893G>C" "r.(?)" "p.(Gln631His)" "" "0001014382" "00024077" "10" "1954" "0" "1954" "0" "c.1954A>G" "r.(?)" "p.(Arg652Gly)" "" "0001014382" "00025770" "10" "1954" "0" "1954" "0" "c.1954A>G" "r.(?)" "p.(Arg652Gly)" "" "0001014383" "00024077" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0001014383" "00025770" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0001019125" "00025770" "70" "1601" "0" "1601" "0" "c.1601G>A" "r.(?)" "p.(Ser534Asn)" "" "0001046130" "00024077" "50" "2324" "0" "2324" "0" "c.2324C>T" "r.(?)" "p.(Thr775Met)" "" "0001046130" "00025770" "50" "2324" "0" "2324" "0" "c.2324C>T" "r.(?)" "p.(Thr775Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000054767" "0000084777" "0000054768" "0000084778" "0000054804" "0000084817" "0000054805" "0000084818" "0000054806" "0000084819" "0000156091" "0000357963" "0000181879" "0000405573" "0000182031" "0000405845" "0000182032" "0000405846" "0000182034" "0000405848" "0000182035" "0000405849" "0000184298" "0000408315" "0000229362" "0000470543" "0000295675" "0000652364" "0000306299" "0000669987" "0000308576" "0000682977" "0000308576" "0000683001" "0000308577" "0000682978" "0000308577" "0000683002" "0000417290" "0000876915" "0000417290" "0000876916" "0000422091" "0000896980" "0000429381" "0000908854" "0000429381" "0000908925" "0000454966" "0000989928"