### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCG8) # 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}}" "ABCG8" "ATP-binding cassette, sub-family G (WHITE), member 8" "2" "p21" "unknown" "LRG_1182" "UD_132118527422" "" "https://www.LOVD.nl/ABCG8" "" "1" "13887" "64241" "605460" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ABCG8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-05-02 16:31:26" "00000" "2025-05-05 21:14:00" ## 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}}" "00001894" "ABCG8" "ATP-binding cassette, sub-family G (WHITE), member 8" "001" "NM_022437.2" "" "NP_071882.1" "" "" "" "-90" "2575" "2022" "44066103" "44105605" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01679" "STSL1" "sitosterolemia, type 1 (STSL1)" "AR" "210250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-07 17:46:14" "03030" "GDB4" "gallbladder disease, type 4 (GBD-4)" "" "611465" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05931" "STSL" "sitosterolemia (STSL)" "" "" "" "" "" "00006" "2021-05-07 17:48:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ABCG8" "01679" "ABCG8" "03030" "ABCG8" "05931" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00292749" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00372400" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "low-phytosterol diet" "Chinese" "STSL_P3" "00372401" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "low-phytosterol diet" "Chinese" "STSL_P6" "00372402" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "low-phytosterol diet and ezetimibe" "Chinese" "STSL_P10" "00372404" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "low-phytosterol diet" "Chinese" "STSL_P1" "00376449" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "low-phytosterol diet" "Chinese" "STSL_P12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00292749" "00198" "00372400" "05931" "00372401" "05931" "00372402" "05931" "00372404" "05931" "00376449" "05931" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01679, 03030, 05931 ## Count = 5 "{{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}}" "0000267715" "05931" "00372400" "01864" "Familial, autosomal recessive" "01y02m" "Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia(-HP:0001873),No Splenomegaly(-HP:0001744),\r\nStomatocytosis unknown(?HP:0004446)" "00y08m?" "01y02m" "Tuberous xanthoma(HP:0031290)" "" "" "" "" "" "" "" "" "0000267716" "05931" "00372401" "01864" "Familial, autosomal recessive" "02y09m" "Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia(-HP:0001873),Splenomegaly(HP:0001744),Stomatocytosis unknown(?HP:0004446)" "02y02m?" "02y09m" "Tuberous xanthoma(HP:0031290)" "" "" "" "" "" "" "" "" "0000267717" "05931" "00372402" "01864" "Familial, autosomal recessive" "01y10m" "Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia unknown(?HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),Chronic hemolytic anemia(HP:0004870),No Thrombocytopenia(-HP:0001873),No Splenomegaly(-HP:0001744),\r\nStomatocytosis unknown(?HP:0004446)" "00y08m?" "01y10m" "Tuberous xanthoma(HP:0031290)" "" "" "" "" "" "" "" "" "0000267719" "05931" "00372404" "01864" "Familial, autosomal recessive" "06y" "Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia(-HP:0001873),No Splenomegaly(-HP:0001744),\r\nNo Stomatocytosis(-HP:0004446)" "02y?" "06y05m" "Tuberous xanthoma(HP:0031290)" "" "" "" "" "" "" "" "" "0000271657" "05931" "00376449" "01864" "Familial, autosomal recessive" "" "Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341),Hyperapobetalipoproteinemia(HP:0008158),No Chronic hemolytic anemia(-HP:0004870),No Stomatocytosis(-HP:0004446),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Splenomegaly(-HP:0001744),No Abnormality of the liver(-HP:0001392),No Thrombocytopenia(-HP:0001873)" "01y03m" "03y03m" "Tuberous xanthoma(HP:0031290)" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293917" "00292749" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000373632" "00372400" "1" "01864" "01864" "2021-05-08 07:13:25" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000373633" "00372401" "1" "01864" "01864" "2021-05-08 07:27:38" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000373634" "00372402" "1" "01864" "01864" "2021-05-08 07:49:09" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000373635" "00372404" "1" "01864" "01864" "2021-05-08 08:15:00" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000377654" "00376449" "1" "01864" "01864" "2021-06-22 17:26:39" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000373632" "ABCG8" "0000373633" "ABCG8" "0000373634" "ABCG8" "0000373635" "ABCG8" "0000377654" "ABCG8" ## 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 = 489 "{{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}}" "0000245854" "0" "10" "2" "44078779" "44078779" "subst" "0" "02330" "ABCG8_000018" "g.44078779A>G" "" "" "" "ABCG8(NM_022437.3):c.379A>G (p.I127V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43851640A>G" "" "benign" "" "0000245859" "0" "10" "2" "44101116" "44101116" "subst" "0" "02330" "ABCG8_000042" "g.44101116A>G" "" "" "" "ABCG8(NM_022437.3):c.1402A>G (p.I468V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43873977A>G" "" "benign" "" "0000245865" "0" "10" "2" "44100999" "44100999" "subst" "0.0003696" "02330" "ABCG8_000040" "g.44100999A>G" "" "" "" "ABCG8(NM_022437.3):c.1285A>G (p.M429V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43873860A>G" "" "benign" "" "0000245866" "0" "10" "2" "44104993" "44104993" "subst" "0.00129981" "02330" "ABCG8_000075" "g.44104993A>G" "" "" "" "ABCG8(NM_022437.3):c.1963A>G (p.M655V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43877854A>G" "" "benign" "" "0000245946" "0" "10" "2" "44066178" "44066178" "subst" "0.00746873" "02330" "ABCG8_000002" "g.44066178A>C" "" "" "" "ABCG8(NM_022437.3):c.-15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43839039A>C" "" "benign" "" "0000245978" "0" "30" "2" "44071658" "44071658" "subst" "7.31184E-5" "02330" "ABCG8_000007" "g.44071658A>G" "" "" "" "ABCG8(NM_022437.3):c.76A>G (p.R26G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43844519A>G" "" "likely benign" "" "0000245979" "0" "30" "2" "44071676" "44071676" "subst" "0.001913" "02330" "ABCG8_000008" "g.44071676A>G" "" "" "" "ABCG8(NM_022437.3):c.94A>G (p.S32G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43844537A>G" "" "likely benign" "" "0000245989" "0" "30" "2" "44099452" "44099452" "subst" "0.000176425" "02330" "ABCG8_000072" "g.44099452A>T" "" "" "" "ABCG8(NM_022437.3):c.1211+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43872313A>T" "" "likely benign" "" "0000245997" "0" "70" "2" "44064993" "44064993" "subst" "2.43635E-5" "02330" "ABCG5_000045" "g.44064993A>G" "" "" "" "ABCG5(NM_022436.3):c.245T>C (p.M82T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43837854A>G" "" "likely pathogenic" "" "0000246002" "0" "50" "2" "44101570" "44101570" "subst" "0.000507709" "02330" "ABCG8_000074" "g.44101570A>G" "" "" "" "ABCG8(NM_022437.2):c.1436A>G (p.Y479C), ABCG8(NM_022437.3):c.1436A>G (p.Y479C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43874431A>G" "" "VUS" "" "0000246058" "0" "70" "2" "44100939" "44100939" "subst" "0.000442733" "02330" "ABCG8_000073" "g.44100939A>G" "" "" "" "ABCG8(NM_022437.3):c.1225A>G (p.N409D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43873800A>G" "" "likely pathogenic" "" "0000246089" "0" "50" "2" "44104952" "44104952" "subst" "0.000243698" "02330" "ABCG8_000070" "g.44104952A>T" "" "" "" "ABCG8(NM_022437.3):c.1922A>T (p.Y641F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43877813A>T" "" "VUS" "" "0000257056" "0" "10" "2" "44065090" "44065090" "subst" "0.0666956" "02330" "ABCG5_000048" "g.44065090G>A" "" "" "" "ABCG5(NM_022436.3):c.148C>T (p.R50C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43837951G>A" "" "benign" "" "0000257068" "0" "10" "2" "44065019" "44065019" "subst" "0" "02330" "ABCG5_000047" "g.44065019G>C" "" "" "" "ABCG5(NM_022436.3):c.219C>G (p.S73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43837880G>C" "" "benign" "" "0000257069" "0" "50" "2" "44065003" "44065003" "subst" "0.000389816" "02330" "ABCG5_000046" "g.44065003C>T" "" "" "" "ABCG5(NM_022436.2):c.235G>A (p.(Gly79Arg)), ABCG5(NM_022436.3):c.235G>A (p.G79R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43837864C>T" "" "VUS" "" "0000257070" "0" "10" "2" "44064963" "44064963" "subst" "0.000105589" "02330" "ABCG5_000044" "g.44064963C>T" "" "" "" "ABCG5(NM_022436.3):c.265+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43837824C>T" "" "benign" "" "0000257071" "0" "10" "2" "44065792" "44065792" "subst" "0.000950951" "02330" "ABCG5_000052" "g.44065792G>A" "" "" "" "ABCG5(NM_022436.3):c.27C>T (p.P9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43838653G>A" "" "benign" "" "0000257086" "0" "30" "2" "44065741" "44065741" "subst" "6.25871E-5" "02330" "ABCG5_000051" "g.44065741C>A" "" "" "" "ABCG5(NM_022436.3):c.78G>T (p.E26D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43838602C>A" "" "likely benign" "" "0000257087" "0" "10" "2" "44065739" "44065739" "subst" "0.00309547" "02330" "ABCG5_000050" "g.44065739C>G" "" "" "" "ABCG5(NM_022436.2):c.80G>C (p.G27A), ABCG5(NM_022436.3):c.80G>C (p.G27A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43838600C>G" "" "benign" "" "0000257090" "0" "30" "2" "44065725" "44065725" "subst" "4.24463E-5" "02330" "ABCG5_000049" "g.44065725C>T" "" "" "" "ABCG5(NM_022436.3):c.94G>A (p.A32T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43838586C>T" "" "likely benign" "" "0000257091" "0" "10" "2" "44066174" "44066174" "subst" "0.397894" "02330" "ABCG8_000001" "g.44066174T>G" "" "" "" "ABCG8(NM_022437.3):c.-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43839035T>G" "" "benign" "" "0000257092" "0" "90" "2" "44099233" "44099233" "subst" "0.000946877" "02330" "ABCG8_000033" "g.44099233G>A" "" "" "" "ABCG8(NM_022437.2):c.1083G>A (p.(Trp361*)), ABCG8(NM_022437.3):c.1083G>A (p.W361*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43872094G>A" "" "pathogenic" "" "0000257093" "0" "30" "2" "44099394" "44099394" "subst" "0.000479952" "02330" "ABCG8_000034" "g.44099394C>T" "" "" "" "ABCG8(NM_022437.2):c.1160C>T (p.P387L), ABCG8(NM_022437.3):c.1160C>T (p.P387L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43872255C>T" "" "likely benign" "" "0000257094" "0" "30" "2" "44099420" "44099420" "subst" "1.22024E-5" "02330" "ABCG8_000035" "g.44099420G>C" "" "" "" "ABCG8(NM_022437.3):c.1186G>C (p.V396L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43872281G>C" "" "likely benign" "" "0000257095" "0" "10" "2" "44099433" "44099433" "subst" "0.211645" "02330" "ABCG8_000036" "g.44099433C>A" "" "" "" "ABCG8(NM_022437.3):c.1199C>A (p.T400K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43872294C>A" "" "benign" "" "0000257096" "0" "10" "2" "44099434" "44099434" "subst" "4.47824E-5" "02330" "ABCG8_000037" "g.44099434G>A" "" "" "" "ABCG8(NM_022437.3):c.1200G>A (p.T400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43872295G>A" "" "benign" "" "0000257097" "0" "10" "2" "44100980" "44100980" "subst" "2.03082E-5" "02330" "ABCG8_000038" "g.44100980G>A" "" "" "" "ABCG8(NM_022437.3):c.1266G>A (p.A422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43873841G>A" "" "benign" "" "0000257098" "0" "90" "2" "44100983" "44100983" "subst" "3.65545E-5" "02330" "ABCG8_000039" "g.44100983G>T" "" "" "" "ABCG8(NM_022437.3):c.1269G>T (p.E423D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43873844G>T" "" "pathogenic" "" "0000257099" "0" "10" "2" "44101100" "44101100" "subst" "0.000398164" "02330" "ABCG8_000041" "g.44101100C>T" "" "" "" "ABCG8(NM_022437.3):c.1386C>T (p.N462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43873961C>T" "" "benign" "" "0000257100" "0" "10" "2" "44101538" "44101538" "subst" "0.675887" "02330" "ABCG8_000044" "g.44101538C>T" "" "" "" "ABCG8(NM_022437.3):c.1412-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43874399C>T" "" "benign" "" "0000257102" "0" "70" "2" "44101597" "44101597" "subst" "2.0312E-5" "02330" "ABCG8_000045" "g.44101597C>A" "" "" "" "ABCG8(NM_022437.3):c.1463C>A (p.T488N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43874458C>A" "" "likely pathogenic" "" "0000257103" "0" "10" "2" "44101631" "44101631" "subst" "1.21959E-5" "02330" "ABCG8_000047" "g.44101631G>A" "" "" "" "ABCG8(NM_022437.3):c.1488+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43874492G>A" "" "benign" "" "0000257104" "0" "70" "2" "44101622" "44101622" "subst" "0" "02330" "ABCG8_000046" "g.44101622G>C" "" "" "" "ABCG8(NM_022437.3):c.1488G>C (p.K496N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43874483G>C" "" "likely pathogenic" "" "0000257105" "0" "10" "2" "44102302" "44102302" "subst" "0.00569352" "02330" "ABCG8_000048" "g.44102302G>A" "" "" "" "ABCG8(NM_022437.2):c.1506G>A (p.P502=), ABCG8(NM_022437.3):c.1506G>A (p.P502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875163G>A" "" "benign" "" "0000257106" "0" "10" "2" "44102319" "44102319" "subst" "4.08053E-6" "02330" "ABCG8_000049" "g.44102319T>C" "" "" "" "ABCG8(NM_022437.3):c.1523T>C (p.I508T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875180T>C" "" "benign" "" "0000257107" "0" "70" "2" "44102325" "44102325" "subst" "0" "02330" "ABCG8_000050" "g.44102325T>C" "" "" "" "ABCG8(NM_022437.3):c.1529T>C (p.I510T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875186T>C" "" "likely pathogenic" "" "0000257108" "0" "70" "2" "44071736" "44071736" "subst" "0.0015072" "02330" "ABCG8_000009" "g.44071736C>G" "" "" "" "ABCG8(NM_022437.3):c.154C>G (p.L52V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43844597C>G" "" "likely pathogenic" "" "0000257109" "0" "50" "2" "44102364" "44102364" "subst" "0.000671583" "02330" "ABCG8_000051" "g.44102364C>T" "" "" "" "ABCG8(NM_022437.2):c.1568C>T (p.P523L), ABCG8(NM_022437.3):c.1568C>T (p.P523L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875225C>T" "" "VUS" "" "0000257110" "0" "90" "2" "44102425" "44102425" "subst" "0.000211298" "02330" "ABCG8_000053" "g.44102425G>T" "" "" "" "ABCG8(NM_022437.3):c.1629G>T (p.R543S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875286G>T" "" "pathogenic" "" "0000257111" "0" "70" "2" "44102444" "44102444" "subst" "0.000235782" "02330" "ABCG8_000054" "g.44102444G>A" "" "" "" "ABCG8(NM_022437.3):c.1648G>A (p.A550T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875305G>A" "" "likely pathogenic" "" "0000257112" "0" "10" "2" "44071760" "44071760" "subst" "0.0219897" "02330" "ABCG8_000010" "g.44071760C>T" "" "" "" "ABCG8(NM_022437.3):c.165+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43844621C>T" "" "benign" "" "0000257114" "0" "50" "2" "44102485" "44102485" "subst" "0" "02330" "ABCG8_000056" "g.44102485C>G" "" "" "" "ABCG8(NM_022437.3):c.1689C>G (p.S563R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875346C>G" "" "VUS" "" "0000257115" "0" "10" "2" "44102491" "44102491" "subst" "0.147055" "02330" "ABCG8_000057" "g.44102491C>T" "" "" "" "ABCG8(NM_022437.3):c.1695C>T (p.A565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875352C>T" "" "benign" "" "0000257116" "0" "50" "2" "44102514" "44102514" "subst" "0" "02330" "ABCG8_000058" "g.44102514C>T" "" "" "" "ABCG8(NM_022437.3):c.1718C>T (p.A573V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875375C>T" "" "VUS" "" "0000257117" "0" "50" "2" "44073299" "44073299" "subst" "0" "02330" "ABCG8_000011" "g.44073299C>A" "" "" "" "ABCG8(NM_022437.3):c.171C>A (p.D57E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43846160C>A" "" "VUS" "" "0000257118" "0" "70" "2" "44102516" "44102516" "subst" "6.10794E-5" "02330" "ABCG8_000059" "g.44102516G>A" "" "" "" "ABCG8(NM_022437.3):c.1720G>A (p.G574R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875377G>A" "" "likely pathogenic" "" "0000257119" "0" "90" "2" "44102517" "44102517" "subst" "4.07156E-6" "02330" "ABCG8_000060" "g.44102517G>A" "" "" "" "ABCG8(NM_022437.3):c.1721G>A (p.G574E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875378G>A" "" "pathogenic" "" "0000257120" "0" "90" "2" "44102519" "44102519" "subst" "0" "02330" "ABCG8_000061" "g.44102519G>C" "" "" "" "ABCG8(NM_022437.3):c.1723G>C (p.G575R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875380G>C" "" "pathogenic" "" "0000257121" "0" "10" "2" "44102567" "44102567" "subst" "0.00260167" "02330" "ABCG8_000062" "g.44102567C>T" "" "" "" "ABCG8(NM_022437.3):c.1756+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875428C>T" "" "benign" "" "0000257122" "0" "30" "2" "44102568" "44102568" "subst" "0.000375853" "02330" "ABCG8_000063" "g.44102568G>A" "" "" "" "ABCG8(NM_022437.3):c.1756+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875429G>A" "" "likely benign" "" "0000257123" "0" "50" "2" "44104706" "44104706" "subst" "8.52743E-5" "02330" "ABCG8_000064" "g.44104706C>A" "" "" "" "ABCG8(NM_022437.3):c.1763C>A (p.A588E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43877567C>A" "" "VUS" "" "0000257124" "0" "10" "2" "44104725" "44104725" "subst" "0.000877129" "02330" "ABCG8_000065" "g.44104725C>T" "" "" "" "ABCG8(NM_022437.3):c.1782C>T (p.S594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43877586C>T" "" "benign" "" "0000257125" "0" "10" "2" "44104728" "44104728" "subst" "0.000974596" "02330" "ABCG8_000066" "g.44104728C>T" "" "" "" "ABCG8(NM_022437.3):c.1785C>T (p.F595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43877589C>T" "" "benign" "" "0000257126" "0" "10" "2" "44104782" "44104782" "subst" "0.000272094" "02330" "ABCG8_000067" "g.44104782T>C" "" "" "" "ABCG8(NM_022437.3):c.1839T>C (p.Y613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43877643T>C" "" "benign" "" "0000257127" "0" "10" "2" "44104925" "44104925" "subst" "0.841391" "02330" "ABCG8_000068" "g.44104925T>C" "" "" "" "ABCG8(NM_022437.3):c.1895T>C (p.V632A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43877786T>C" "" "benign" "" "0000257128" "0" "10" "2" "44104941" "44104941" "subst" "0" "02330" "ABCG8_000069" "g.44104941G>C" "" "" "" "ABCG8(NM_022437.3):c.1911G>C (p.S637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43877802G>C" "" "benign" "" "0000257129" "0" "10" "2" "44104971" "44104971" "subst" "0.000694557" "02330" "ABCG8_000071" "g.44104971C>G" "" "" "" "ABCG8(NM_022437.2):c.1941C>G (p.V647=), ABCG8(NM_022437.3):c.1941C>G (p.V647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43877832C>G" "" "benign" "" "0000257130" "0" "50" "2" "44073348" "44073348" "subst" "8.52764E-5" "02330" "ABCG8_000012" "g.44073348C>G" "" "" "" "ABCG8(NM_022437.3):c.220C>G (p.P74A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43846209C>G" "" "VUS" "" "0000257131" "0" "10" "2" "44073367" "44073367" "subst" "0.00586401" "02330" "ABCG8_000013" "g.44073367G>A" "" "" "" "ABCG8(NM_022437.3):c.239G>A (p.C80Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43846228G>A" "" "benign" "" "0000257132" "0" "30" "2" "44073456" "44073456" "subst" "0.000292826" "02330" "ABCG8_000014" "g.44073456G>A" "" "" "" "ABCG8(NM_022437.3):c.322+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43846317G>A" "" "likely benign" "" "0000257133" "0" "10" "2" "44078742" "44078742" "subst" "0.000122318" "02330" "ABCG8_000015" "g.44078742G>A" "" "" "" "ABCG8(NM_022437.3):c.342G>A (p.L114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43851603G>A" "" "benign" "" "0000257134" "0" "90" "2" "44078761" "44078761" "subst" "2.44254E-5" "02330" "ABCG8_000016" "g.44078761C>T" "" "" "" "ABCG8(NM_022437.3):c.361C>T (p.R121*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43851622C>T" "" "pathogenic" "" "0000257135" "0" "10" "2" "44078769" "44078769" "subst" "2.44135E-5" "02330" "ABCG8_000017" "g.44078769C>T" "" "" "" "ABCG8(NM_022437.3):c.369C>T (p.H123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43851630C>T" "" "benign" "" "0000257136" "0" "30" "2" "44078781" "44078781" "subst" "4.06663E-5" "02330" "ABCG8_000019" "g.44078781C>T" "" "" "" "ABCG8(NM_022437.3):c.381C>T (p.I127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43851642C>T" "" "likely benign" "" "0000257137" "0" "50" "2" "44078819" "44078819" "subst" "4.47024E-5" "02330" "ABCG8_000020" "g.44078819C>T" "" "" "" "ABCG8(NM_022437.3):c.419C>T (p.S140L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43851680C>T" "" "VUS" "" "0000257138" "0" "90" "2" "44078850" "44078850" "subst" "1.21931E-5" "02330" "ABCG8_000021" "g.44078850C>A" "" "" "" "ABCG8(NM_022437.3):c.450C>A (p.H150Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43851711C>A" "" "pathogenic" "" "0000257139" "0" "10" "2" "44078853" "44078853" "subst" "0.0660922" "02330" "ABCG8_000022" "g.44078853G>A" "" "" "" "ABCG8(NM_022437.3):c.453G>A (p.V151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43851714G>A" "" "benign" "" "0000257140" "0" "50" "2" "44078891" "44078891" "subst" "0.000582447" "02330" "ABCG8_000023" "g.44078891G>A" "" "" "" "ABCG8(NM_022437.3):c.491G>A (p.R164Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43851752G>A" "" "VUS" "" "0000257141" "0" "10" "2" "44066243" "44066243" "subst" "0.00164205" "02330" "ABCG8_000003" "g.44066243C>A" "" "" "" "ABCG8(NM_022437.3):c.51C>A (p.P17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43839104C>A" "" "benign" "" "0000257142" "0" "10" "2" "44066247" "44066247" "subst" "0.0670568" "02330" "ABCG8_000004" "g.44066247G>C" "" "" "" "ABCG8(NM_022437.3):c.55G>C (p.D19H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43839108G>C" "" "benign" "" "0000257143" "0" "10" "2" "44079507" "44079507" "subst" "0.000565887" "02330" "ABCG8_000024" "g.44079507C>T" "" "" "" "ABCG8(NM_022437.2):c.576C>T (p.I192=), ABCG8(NM_022437.3):c.576C>T (p.I192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43852368C>T" "" "benign" "" "0000257144" "0" "50" "2" "44079542" "44079542" "subst" "0.000138296" "02330" "ABCG8_000025" "g.44079542G>A" "" "" "" "ABCG8(NM_022437.3):c.611G>A (p.R204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43852403G>A" "" "VUS" "" "0000257145" "0" "10" "2" "44071639" "44071639" "subst" "0.444965" "02330" "ABCG8_000005" "g.44071639C>T" "" "" "" "ABCG8(NM_022437.3):c.64-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43844500C>T" "" "benign" "" "0000257146" "0" "10" "2" "44071646" "44071646" "subst" "2.03194E-5" "02330" "ABCG8_000006" "g.44071646G>A" "" "" "" "ABCG8(NM_022437.3):c.64G>A (p.G22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43844507G>A" "" "benign" "" "0000257147" "0" "10" "2" "44079606" "44079606" "subst" "0.0485599" "02330" "ABCG8_000026" "g.44079606G>A" "" "" "" "ABCG8(NM_022437.3):c.675G>A (p.V225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43852467G>A" "" "benign" "" "0000257148" "0" "10" "2" "44079725" "44079726" "del" "0" "02330" "ABCG8_000027" "g.44079725_44079726del" "" "" "" "ABCG8(NM_022437.3):c.695-13_695-12delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43852586_43852587del" "" "benign" "" "0000257149" "0" "50" "2" "44079755" "44079755" "subst" "0.000870131" "02330" "ABCG8_000028" "g.44079755G>A" "" "" "" "ABCG8(NM_022437.3):c.712G>A (p.E238K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43852616G>A" "" "VUS" "" "0000257150" "0" "50" "2" "44079765" "44079765" "subst" "0.000308895" "02330" "ABCG8_000029" "g.44079765C>T" "" "" "" "ABCG8(NM_022437.3):c.722C>T (p.S241F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43852626C>T" "" "VUS" "" "0000257151" "0" "90" "2" "44079831" "44079831" "subst" "0.000134022" "02330" "ABCG8_000030" "g.44079831G>A" "" "" "" "ABCG8(NM_022437.3):c.788G>A (p.R263Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43852692G>A" "" "pathogenic" "" "0000257152" "0" "90" "2" "44099114" "44099114" "subst" "4.07014E-6" "02330" "ABCG8_000031" "g.44099114G>C" "" "" "" "ABCG8(NM_022437.3):c.965-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43871975G>C" "" "pathogenic" "" "0000257153" "0" "50" "2" "44099139" "44099139" "subst" "2.03412E-5" "02330" "ABCG8_000032" "g.44099139G>A" "" "" "" "ABCG8(NM_022437.3):c.989G>A (p.R330H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43872000G>A" "" "VUS" "" "0000258707" "0" "10" "2" "44099433" "44099433" "subst" "0.211645" "02325" "ABCG8_000036" "g.44099433C>A" "" "" "" "ABCG8(NM_022437.3):c.1199C>A (p.T400K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43872294C>A" "" "benign" "" "0000258708" "0" "10" "2" "44101538" "44101538" "subst" "0.675887" "02325" "ABCG8_000044" "g.44101538C>T" "" "" "" "ABCG8(NM_022437.3):c.1412-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43874399C>T" "" "benign" "" "0000258709" "0" "10" "2" "44102491" "44102491" "subst" "0.147055" "02325" "ABCG8_000057" "g.44102491C>T" "" "" "" "ABCG8(NM_022437.3):c.1695C>T (p.A565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875352C>T" "" "benign" "" "0000258710" "0" "10" "2" "44104925" "44104925" "subst" "0.841391" "02325" "ABCG8_000068" "g.44104925T>C" "" "" "" "ABCG8(NM_022437.3):c.1895T>C (p.V632A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43877786T>C" "" "benign" "" "0000258711" "0" "10" "2" "44071639" "44071639" "subst" "0.444965" "02325" "ABCG8_000005" "g.44071639C>T" "" "" "" "ABCG8(NM_022437.3):c.64-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43844500C>T" "" "benign" "" "0000260476" "0" "10" "2" "44073367" "44073367" "subst" "0.00586401" "02326" "ABCG8_000013" "g.44073367G>A" "" "" "" "ABCG8(NM_022437.3):c.239G>A (p.C80Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43846228G>A" "" "benign" "" "0000261729" "0" "30" "2" "44102375" "44102375" "subst" "0" "01943" "ABCG8_000052" "g.44102375C>A" "" "" "" "ABCG8(NM_022437.2):c.1579C>A (p.P527T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43875236C>A" "" "likely benign" "" "0000351206" "0" "70" "2" "44099114" "44099114" "subst" "4.07014E-6" "02327" "ABCG8_000031" "g.44099114G>C" "" "" "" "ABCG8(NM_022437.3):c.965-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43871975G>C" "" "likely pathogenic" "" "0000515888" "0" "50" "2" "44064996" "44064996" "subst" "0" "02330" "ABCG5_000111" "g.44064996A>G" "" "" "" "ABCG5(NM_022436.3):c.242T>C (p.I81T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43837857A>G" "" "VUS" "" "0000515889" "0" "50" "2" "44065000" "44065000" "subst" "6.90294E-5" "02330" "ABCG5_000112" "g.44065000G>T" "" "" "" "ABCG5(NM_022436.3):c.238C>A (p.Q80K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43837861G>T" "" "VUS" "" "0000515890" "0" "50" "2" "44065056" "44065056" "subst" "0.000101514" "02330" "ABCG5_000113" "g.44065056C>T" "" "" "" "ABCG5(NM_022436.3):c.182G>A (p.R61Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43837917C>T" "" "VUS" "" "0000515891" "0" "50" "2" "44065680" "44065680" "subst" "0.000749524" "02330" "ABCG5_000114" "g.44065680C>A" "" "" "" "ABCG5(NM_022436.3):c.139G>T (p.V47F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43838541C>A" "" "VUS" "" "0000515892" "0" "50" "2" "44065680" "44065680" "subst" "8.52752E-5" "02330" "ABCG5_000115" "g.44065680C>T" "" "" "" "ABCG5(NM_022436.3):c.139G>A (p.V47I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43838541C>T" "" "VUS" "" "0000515893" "0" "50" "2" "44065681" "44065681" "subst" "0" "02330" "ABCG5_000116" "g.44065681G>T" "" "" "" "ABCG5(NM_022436.3):c.138C>A (p.S46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43838542G>T" "" "VUS" "" "0000515894" "0" "10" "2" "44065739" "44065739" "subst" "0.00309547" "02326" "ABCG5_000050" "g.44065739C>G" "" "" "" "ABCG5(NM_022436.2):c.80G>C (p.G27A), ABCG5(NM_022436.3):c.80G>C (p.G27A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43838600C>G" "" "benign" "" "0000515895" "0" "90" "2" "44065755" "44065755" "subst" "4.11872E-5" "02330" "ABCG5_000117" "g.44065755G>A" "" "" "" "ABCG5(NM_022436.3):c.64C>T (p.Q22*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43838616G>A" "" "pathogenic" "" "0000515896" "0" "30" "2" "44065782" "44065782" "subst" "0" "02330" "ABCG5_000118" "g.44065782T>C" "" "" "" "ABCG5(NM_022436.3):c.37A>G (p.M13V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43838643T>C" "" "likely benign" "" "0000515897" "0" "30" "2" "44065786" "44065786" "subst" "0.00011422" "02330" "ABCG5_000119" "g.44065786C>A" "" "" "" "ABCG5(NM_022436.3):c.33G>T (p.G11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43838647C>A" "" "likely benign" "" "0000515898" "0" "50" "2" "44066189" "44066189" "subst" "6.74955E-6" "02330" "ABCG5_000120" "g.44066189C>T" "" "" "" "ABCG8(NM_022437.3):c.-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43839050C>T" "" "VUS" "" "0000515899" "0" "30" "2" "44066221" "44066221" "subst" "6.745E-6" "02330" "ABCG5_000121" "g.44066221G>C" "" "" "" "ABCG8(NM_022437.2):c.29G>C (p.G10A), ABCG8(NM_022437.3):c.29G>C (p.G10A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43839082G>C" "" "likely benign" "" "0000515900" "0" "50" "2" "44066227" "44066227" "subst" "3.37441E-5" "02330" "ABCG5_000122" "g.44066227C>T" "" "" "" "ABCG8(NM_022437.3):c.35C>T (p.P12L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43839088C>T" "" "VUS" "" "0000515901" "0" "50" "2" "44066243" "44066255" "dup" "0" "02330" "ABCG5_000123" "g.44066243_44066255dup" "" "" "" "ABCG8(NM_022437.3):c.51_63dupCCAGGATACCTCG (p.G22Pfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43839104_43839116dup" "" "VUS" "" "0000515902" "0" "10" "2" "44066247" "44066247" "subst" "0.0670568" "02326" "ABCG8_000004" "g.44066247G>C" "" "" "" "ABCG8(NM_022437.3):c.55G>C (p.D19H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43839108G>C" "" "benign" "" "0000515903" "0" "30" "2" "44071625" "44071625" "subst" "0.426846" "02330" "ABCG8_000076" "g.44071625C>A" "" "" "" "ABCG8(NM_022437.3):c.64-21C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43844486C>A" "" "likely benign" "" "0000515904" "0" "10" "2" "44071743" "44071743" "subst" "0.428544" "02330" "ABCG8_000077" "g.44071743A>G" "" "" "" "ABCG8(NM_022437.3):c.161A>G (p.Y54C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43844604A>G" "" "benign" "" "0000515905" "0" "10" "2" "44071743" "44071743" "subst" "0.428544" "02325" "ABCG8_000077" "g.44071743A>G" "" "" "" "ABCG8(NM_022437.3):c.161A>G (p.Y54C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43844604A>G" "" "benign" "" "0000515906" "0" "70" "2" "44071750" "44071750" "subst" "4.06597E-6" "02330" "ABCG8_000078" "g.44071750A>G" "" "" "" "ABCG8(NM_022437.3):c.165+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43844611A>G" "" "likely pathogenic" "" "0000515907" "0" "10" "2" "44072576" "44072576" "subst" "0" "02330" "ABCG8_000079" "g.44072576G>T" "" "" "" "ABCG8(NM_022437.3):c.166-718G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43845437G>T" "" "benign" "" "0000515908" "0" "50" "2" "44073297" "44073297" "subst" "0" "02330" "ABCG8_000080" "g.44073297G>C" "" "" "" "ABCG8(NM_022437.3):c.169G>C (p.D57H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43846158G>C" "" "VUS" "" "0000515909" "0" "30" "2" "44073398" "44073398" "subst" "4.06098E-6" "02330" "ABCG8_000081" "g.44073398C>G" "" "" "" "ABCG8(NM_022437.3):c.270C>G (p.N90K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43846259C>G" "" "likely benign" "" "0000515910" "0" "10" "2" "44073881" "44073881" "subst" "0" "02330" "ABCG8_000082" "g.44073881T>C" "" "" "" "ABCG8(NM_022437.3):c.322+431T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43846742T>C" "" "benign" "" "0000515911" "0" "30" "2" "44078754" "44078754" "subst" "0" "02330" "ABCG8_000083" "g.44078754C>T" "" "" "" "ABCG8(NM_022437.3):c.354C>T (p.I118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851615C>T" "" "likely benign" "" "0000515912" "0" "70" "2" "44078770" "44078770" "subst" "2.44139E-5" "02330" "ABCG8_000084" "g.44078770G>A" "" "" "" "ABCG8(NM_022437.3):c.370G>A (p.G124S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851631G>A" "" "likely pathogenic" "" "0000515913" "0" "30" "2" "44078772" "44078772" "subst" "3.25478E-5" "02330" "ABCG8_000085" "g.44078772C>T" "" "" "" "ABCG8(NM_022437.3):c.372C>T (p.G124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851633C>T" "" "likely benign" "" "0000515914" "0" "30" "2" "44078784" "44078784" "subst" "0.000121974" "02330" "ABCG8_000086" "g.44078784G>A" "" "" "" "ABCG8(NM_022437.3):c.384G>A (p.K128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851645G>A" "" "likely benign" "" "0000515915" "0" "50" "2" "44078806" "44078806" "subst" "0" "02330" "ABCG8_000087" "g.44078806G>T" "" "" "" "ABCG8(NM_022437.3):c.406G>T (p.G136W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851667G>T" "" "VUS" "" "0000515916" "0" "90" "2" "44078841" "44078841" "subst" "0" "02330" "ABCG8_000088" "g.44078841T>A" "" "" "" "ABCG8(NM_022437.3):c.441T>A (p.C147*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851702T>A" "" "pathogenic" "" "0000515917" "0" "30" "2" "44078850" "44078850" "subst" "9.75451E-5" "02330" "ABCG8_000089" "g.44078850C>T" "" "" "" "ABCG8(NM_022437.3):c.450C>T (p.H150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851711C>T" "" "likely benign" "" "0000515918" "0" "50" "2" "44078851" "44078851" "subst" "4.06441E-5" "02330" "ABCG8_000090" "g.44078851G>A" "" "" "" "ABCG8(NM_022437.3):c.451G>A (p.V151M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851712G>A" "" "VUS" "" "0000515919" "0" "50" "2" "44078950" "44078950" "subst" "2.86775E-5" "02330" "ABCG8_000091" "g.44078950C>T" "" "" "" "ABCG8(NM_022437.3):c.550C>T (p.R184C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851811C>T" "" "VUS" "" "0000515920" "0" "30" "2" "44078975" "44078975" "subst" "0.000730982" "02330" "ABCG8_000092" "g.44078975C>T" "" "" "" "ABCG8(NM_022437.3):c.561+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851836C>T" "" "likely benign" "" "0000515921" "0" "30" "2" "44078978" "44078978" "subst" "0" "02330" "ABCG8_000093" "g.44078978A>C" "" "" "" "ABCG8(NM_022437.3):c.561+17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851839A>C" "" "likely benign" "" "0000515922" "0" "30" "2" "44078980" "44078980" "subst" "0" "02330" "ABCG8_000094" "g.44078980T>C" "" "" "" "ABCG8(NM_022437.3):c.561+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851841T>C" "" "likely benign" "" "0000515923" "0" "50" "2" "44079493" "44079493" "subst" "0" "02330" "ABCG8_000095" "g.44079493G>C" "" "" "" "ABCG8(NM_022437.3):c.562G>C (p.V188L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852354G>C" "" "VUS" "" "0000515924" "0" "50" "2" "44079509" "44079509" "subst" "0.00017504" "02330" "ABCG8_000096" "g.44079509C>T" "" "" "" "ABCG8(NM_022437.3):c.578C>T (p.A193V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852370C>T" "" "VUS" "" "0000515925" "0" "70" "2" "44079550" "44079550" "subst" "5.69323E-5" "02330" "ABCG8_000097" "g.44079550A>G" "" "" "" "ABCG8(NM_022437.3):c.619A>G (p.N207D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852411A>G" "" "likely pathogenic" "" "0000515926" "0" "30" "2" "44079559" "44079559" "subst" "0.00358343" "02330" "ABCG8_000098" "g.44079559G>A" "" "" "" "ABCG8(NM_022437.3):c.628G>A (p.V210M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852420G>A" "" "likely benign" "" "0000515927" "0" "10" "2" "44079559" "44079559" "subst" "0.00358343" "02326" "ABCG8_000098" "g.44079559G>A" "" "" "" "ABCG8(NM_022437.3):c.628G>A (p.V210M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852420G>A" "" "benign" "" "0000515928" "0" "70" "2" "44079563" "44079563" "subst" "2.44162E-5" "02330" "ABCG8_000099" "g.44079563G>A" "" "" "" "ABCG8(NM_022437.3):c.632G>A (p.R211Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852424G>A" "" "likely pathogenic" "" "0000515929" "0" "50" "2" "44079572" "44079572" "subst" "2.44228E-5" "02330" "ABCG8_000100" "g.44079572C>T" "" "" "" "ABCG8(NM_022437.3):c.641C>T (p.S214L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852433C>T" "" "VUS" "" "0000515930" "0" "30" "2" "44079751" "44079751" "subst" "4.06765E-6" "02330" "ABCG8_000101" "g.44079751C>T" "" "" "" "ABCG8(NM_022437.3):c.708C>T (p.L236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852612C>T" "" "likely benign" "" "0000515931" "0" "70" "2" "44079773" "44079773" "subst" "3.65773E-5" "02330" "ABCG8_000102" "g.44079773G>A" "" "" "" "ABCG8(NM_022437.3):c.730G>A (p.D244N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852634G>A" "" "likely pathogenic" "" "0000515932" "0" "50" "2" "44079777" "44079777" "subst" "0" "02330" "ABCG8_000103" "g.44079777G>C" "" "" "" "ABCG8(NM_022437.3):c.734G>C (p.S245T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852638G>C" "" "VUS" "" "0000515933" "0" "70" "2" "44079825" "44079825" "subst" "0" "02330" "ABCG8_000104" "g.44079825G>T" "" "" "" "ABCG8(NM_022437.3):c.782G>T (p.G261V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852686G>T" "" "likely pathogenic" "" "0000515934" "0" "30" "2" "44079930" "44079930" "subst" "6.09251E-5" "02330" "ABCG8_000105" "g.44079930C>T" "" "" "" "ABCG8(NM_022437.3):c.887C>T (p.A296V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852791C>T" "" "likely benign" "" "0000515935" "0" "50" "2" "44079941" "44079941" "subst" "1.21866E-5" "02330" "ABCG8_000106" "g.44079941A>G" "" "" "" "ABCG8(NM_022437.3):c.898A>G (p.M300V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852802A>G" "" "VUS" "" "0000515936" "0" "70" "2" "44079970" "44079970" "subst" "0" "02330" "ABCG8_000107" "g.44079970C>G" "" "" "" "ABCG8(NM_022437.3):c.927C>G (p.Y309*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852831C>G" "" "likely pathogenic" "" "0000515937" "0" "50" "2" "44079971" "44079971" "subst" "0" "02330" "ABCG8_000108" "g.44079971C>G" "" "" "" "ABCG8(NM_022437.3):c.928C>G (p.P310A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852832C>G" "" "VUS" "" "0000515938" "0" "50" "2" "44079981" "44079981" "subst" "1.22084E-5" "02330" "ABCG8_000109" "g.44079981G>A" "" "" "" "ABCG8(NM_022437.3):c.938G>A (p.R313H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852842G>A" "" "VUS" "" "0000515939" "0" "30" "2" "44099096" "44099096" "subst" "0" "02330" "ABCG8_000110" "g.44099096C>G" "" "" "" "ABCG8(NM_022437.3):c.965-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43871957C>G" "" "likely benign" "" "0000515940" "0" "50" "2" "44099186" "44099186" "subst" "8.13101E-6" "02330" "ABCG8_000111" "g.44099186G>A" "" "" "" "ABCG8(NM_022437.3):c.1036G>A (p.A346T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872047G>A" "" "VUS" "" "0000515941" "0" "30" "2" "44099191" "44099191" "subst" "0" "02330" "ABCG8_000112" "g.44099191C>A" "" "" "" "ABCG8(NM_022437.3):c.1041C>A (p.A347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872052C>A" "" "likely benign" "" "0000515942" "0" "50" "2" "44099211" "44099211" "subst" "0" "02330" "ABCG8_000113" "g.44099211G>T" "" "" "" "ABCG8(NM_022437.3):c.1061G>T (p.R354L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872072G>T" "" "VUS" "" "0000515943" "0" "50" "2" "44099243" "44099243" "subst" "0.00026007" "02330" "ABCG8_000114" "g.44099243A>G" "" "" "" "ABCG8(NM_022437.3):c.1093A>G (p.T365A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872104A>G" "" "VUS" "" "0000515944" "0" "50" "2" "44099244" "44099244" "subst" "0.000447005" "02330" "ABCG8_000115" "g.44099244C>T" "" "" "" "ABCG8(NM_022437.3):c.1094C>T (p.T365M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872105C>T" "" "VUS" "" "0000515945" "0" "30" "2" "44099256" "44099256" "subst" "3.65744E-5" "01943" "ABCG8_000116" "g.44099256A>T" "" "" "" "ABCG8(NM_022437.2):c.1106A>T (p.D369V), ABCG8(NM_022437.3):c.1106A>T (p.D369V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872117A>T" "" "likely benign" "" "0000515946" "0" "30" "2" "44099267" "44099267" "subst" "0.000463328" "02330" "ABCG8_000117" "g.44099267T>C" "" "" "" "ABCG8(NM_022437.3):c.1117T>C (p.C373R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872128T>C" "" "likely benign" "" "0000515947" "0" "50" "2" "44099291" "44099291" "subst" "2.84669E-5" "02330" "ABCG8_000118" "g.44099291C>T" "" "" "" "ABCG8(NM_022437.3):c.1127+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872152C>T" "" "VUS" "" "0000515948" "0" "50" "2" "44099387" "44099387" "subst" "0" "02330" "ABCG8_000119" "g.44099387T>C" "" "" "" "ABCG8(NM_022437.3):c.1153T>C (p.C385R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872248T>C" "" "VUS" "" "0000515949" "0" "30" "2" "44099394" "44099394" "subst" "0.000479952" "01943" "ABCG8_000034" "g.44099394C>T" "" "" "" "ABCG8(NM_022437.2):c.1160C>T (p.P387L), ABCG8(NM_022437.3):c.1160C>T (p.P387L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872255C>T" "" "likely benign" "" "0000515950" "0" "10" "2" "44099404" "44099404" "subst" "0.000366038" "02330" "ABCG8_000120" "g.44099404G>A" "" "" "" "ABCG8(NM_022437.3):c.1170G>A (p.T390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872265G>A" "" "benign" "" "0000515951" "0" "30" "2" "44099419" "44099419" "subst" "0.000101695" "02330" "ABCG8_000121" "g.44099419G>A" "" "" "" "ABCG8(NM_022437.3):c.1185G>A (p.A395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872280G>A" "" "likely benign" "" "0000515952" "0" "50" "2" "44099435" "44099435" "subst" "0.00153915" "02330" "ABCG8_000122" "g.44099435A>T" "" "" "" "ABCG8(NM_022437.2):c.1201A>T (p.T401S), ABCG8(NM_022437.3):c.1201A>T (p.T401S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872296A>T" "" "VUS" "" "0000515953" "0" "30" "2" "44099435" "44099435" "subst" "0.00153915" "02326" "ABCG8_000122" "g.44099435A>T" "" "" "" "ABCG8(NM_022437.2):c.1201A>T (p.T401S), ABCG8(NM_022437.3):c.1201A>T (p.T401S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872296A>T" "" "likely benign" "" "0000515954" "0" "50" "2" "44099444" "44099444" "subst" "1.63496E-5" "02330" "ABCG8_000123" "g.44099444C>T" "" "" "" "ABCG8(NM_022437.3):c.1210C>T (p.R404C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872305C>T" "" "VUS" "" "0000515955" "0" "30" "2" "44099454" "44099455" "del" "0" "02330" "ABCG8_000124" "g.44099454_44099455del" "" "" "" "ABCG8(NM_022437.3):c.1211+9_1211+10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872315_43872316del" "" "likely benign" "" "0000515956" "0" "30" "2" "44100907" "44100907" "subst" "8.12605E-6" "02330" "ABCG8_000125" "g.44100907C>G" "" "" "" "ABCG8(NM_022437.3):c.1212-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43873768C>G" "" "likely benign" "" "0000515957" "0" "70" "2" "44100927" "44100927" "subst" "2.84342E-5" "02330" "ABCG8_000126" "g.44100927C>T" "" "" "" "ABCG8(NM_022437.3):c.1213C>T (p.R405C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43873788C>T" "" "likely pathogenic" "" "0000515958" "0" "90" "2" "44100928" "44100928" "subst" "8.12434E-6" "02330" "ABCG8_000127" "g.44100928G>A" "" "" "" "ABCG8(NM_022437.3):c.1214G>A (p.R405H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43873789G>A" "" "pathogenic" "" "0000515959" "0" "50" "2" "44100940" "44100940" "subst" "0.000312754" "02330" "ABCG8_000128" "g.44100940A>G" "" "" "" "ABCG8(NM_022437.3):c.1226A>G (p.N409S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43873801A>G" "" "VUS" "" "0000515960" "0" "90" "2" "44100948" "44100948" "subst" "9.34276E-5" "02330" "ABCG8_000129" "g.44100948C>T" "" "" "" "ABCG8(NM_022437.2):c.1234C>T (p.R412*), ABCG8(NM_022437.3):c.1234C>T (p.R412*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43873809C>T" "" "pathogenic" "" "0000515961" "0" "90" "2" "44100948" "44100948" "subst" "9.34276E-5" "01943" "ABCG8_000129" "g.44100948C>T" "" "" "" "ABCG8(NM_022437.2):c.1234C>T (p.R412*), ABCG8(NM_022437.3):c.1234C>T (p.R412*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43873809C>T" "" "pathogenic" "" "0000515962" "0" "90" "2" "44100949" "44100949" "subst" "8.12381E-6" "02330" "ABCG8_000130" "g.44100949G>A" "" "" "" "ABCG8(NM_022437.3):c.1235G>A (p.R412Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43873810G>A" "" "pathogenic" "" "0000515963" "0" "70" "2" "44100985" "44100985" "subst" "0" "02330" "ABCG8_000131" "g.44100985C>A" "" "" "" "ABCG8(NM_022437.3):c.1271C>A (p.A424D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43873846C>A" "" "likely pathogenic" "" "0000515964" "0" "10" "2" "44101079" "44101079" "subst" "0.00165735" "02330" "ABCG8_000132" "g.44101079C>T" "" "" "" "ABCG8(NM_022437.3):c.1365C>T (p.I455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43873940C>T" "" "benign" "" "0000515965" "0" "10" "2" "44101215" "44101215" "del" "0" "02330" "ABCG8_000133" "g.44101215del" "" "" "" "ABCG8(NM_022437.3):c.1411+90delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874076del" "" "benign" "" "0000515966" "0" "10" "2" "44101394" "44101394" "subst" "0" "02330" "ABCG8_000134" "g.44101394A>G" "" "" "" "ABCG8(NM_022437.3):c.1412-152A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874255A>G" "" "benign" "" "0000515967" "0" "10" "2" "44101537" "44101538" "ins" "0.19085" "02330" "ABCG8_000135" "g.44101537_44101538insT" "" "" "" "ABCG8(NM_022437.3):c.1412-9_1412-8insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874398_43874399insT" "" "benign" "" "0000515968" "0" "10" "2" "44101550" "44101550" "subst" "0.000121849" "02330" "ABCG8_000136" "g.44101550C>T" "" "" "" "ABCG8(NM_022437.3):c.1416C>T (p.Y472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874411C>T" "" "benign" "" "0000515969" "0" "70" "2" "44101552" "44101552" "subst" "0" "02330" "ABCG8_000137" "g.44101552C>A" "" "" "" "ABCG8(NM_022437.3):c.1418C>A (p.S473*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874413C>A" "" "likely pathogenic" "" "0000515970" "0" "50" "2" "44101570" "44101570" "subst" "0.000507709" "02325" "ABCG8_000074" "g.44101570A>G" "" "" "" "ABCG8(NM_022437.2):c.1436A>G (p.Y479C), ABCG8(NM_022437.3):c.1436A>G (p.Y479C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874431A>G" "" "VUS" "" "0000515971" "0" "30" "2" "44101627" "44101627" "subst" "1.62554E-5" "02330" "ABCG8_000138" "g.44101627C>T" "" "" "" "ABCG8(NM_022437.3):c.1488+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874488C>T" "" "likely benign" "" "0000515972" "0" "30" "2" "44101653" "44101655" "dup" "0" "02330" "ABCG8_000139" "g.44101653_44101655dup" "" "" "" "ABCG8(NM_022437.3):c.1488+31_1488+33dupCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874514_43874516dup" "" "likely benign" "" "0000515973" "0" "50" "2" "44102291" "44102291" "subst" "0.000122694" "02330" "ABCG8_000140" "g.44102291G>A" "" "" "" "ABCG8(NM_022437.3):c.1495G>A (p.G499R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875152G>A" "" "VUS" "" "0000515974" "0" "30" "2" "44102302" "44102302" "subst" "0.00569352" "01943" "ABCG8_000048" "g.44102302G>A" "" "" "" "ABCG8(NM_022437.2):c.1506G>A (p.P502=), ABCG8(NM_022437.3):c.1506G>A (p.P502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875163G>A" "" "likely benign" "" "0000515975" "0" "30" "2" "44102329" "44102329" "subst" "8.15774E-6" "02330" "ABCG8_000141" "g.44102329C>T" "" "" "" "ABCG8(NM_022437.3):c.1533C>T (p.Y511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875190C>T" "" "likely benign" "" "0000515976" "0" "50" "2" "44102330" "44102330" "subst" "2.03942E-5" "02330" "ABCG8_000142" "g.44102330G>A" "" "" "" "ABCG8(NM_022437.3):c.1534G>A (p.G512R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875191G>A" "" "VUS" "" "0000515977" "0" "50" "2" "44102394" "44102394" "subst" "0" "02330" "ABCG8_000143" "g.44102394T>G" "" "" "" "ABCG8(NM_022437.3):c.1598T>G (p.L533R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875255T>G" "" "VUS" "" "0000515978" "0" "50" "2" "44102415" "44102415" "subst" "8.1285E-6" "02330" "ABCG8_000144" "g.44102415T>C" "" "" "" "ABCG8(NM_022437.3):c.1619T>C (p.F540S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875276T>C" "" "VUS" "" "0000515979" "0" "30" "2" "44102440" "44102440" "subst" "3.65794E-5" "02330" "ABCG8_000145" "g.44102440C>T" "" "" "" "ABCG8(NM_022437.3):c.1644C>T (p.A548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875301C>T" "" "likely benign" "" "0000515980" "0" "30" "2" "44102441" "44102441" "subst" "0.000365886" "02330" "ABCG8_000146" "g.44102441G>A" "" "" "" "ABCG8(NM_022437.3):c.1645G>A (p.A549T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875302G>A" "" "likely benign" "" "0000515981" "0" "50" "2" "44102496" "44102496" "subst" "0" "02330" "ABCG8_000147" "g.44102496A>C" "" "" "" "ABCG8(NM_022437.3):c.1700A>C (p.Y567S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875357A>C" "" "VUS" "" "0000515982" "0" "70" "2" "44102511" "44102511" "subst" "8.95044E-5" "02330" "ABCG8_000148" "g.44102511T>C" "" "" "" "ABCG8(NM_022437.2):c.1715T>C (p.(Leu572Pro)), ABCG8(NM_022437.3):c.1715T>C (p.L572P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875372T>C" "" "likely pathogenic" "" "0000515983" "0" "50" "2" "44102511" "44102511" "subst" "8.95044E-5" "02325" "ABCG8_000148" "g.44102511T>C" "" "" "" "ABCG8(NM_022437.2):c.1715T>C (p.(Leu572Pro)), ABCG8(NM_022437.3):c.1715T>C (p.L572P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875372T>C" "" "VUS" "" "0000515984" "0" "50" "2" "44102513" "44102513" "subst" "2.84856E-5" "02330" "ABCG8_000149" "g.44102513G>A" "" "" "" "ABCG8(NM_022437.3):c.1717G>A (p.A573T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875374G>A" "" "VUS" "" "0000515985" "0" "50" "2" "44102535" "44102535" "subst" "0" "02330" "ABCG8_000150" "g.44102535T>C" "" "" "" "ABCG8(NM_022437.3):c.1739T>C (p.L580S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875396T>C" "" "VUS" "" "0000515986" "0" "30" "2" "44102560" "44102560" "subst" "0" "02330" "ABCG8_000151" "g.44102560C>T" "" "" "" "ABCG8(NM_022437.3):c.1756+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875421C>T" "" "likely benign" "" "0000515987" "0" "10" "2" "44103017" "44103017" "subst" "0" "02330" "ABCG8_000152" "g.44103017T>C" "" "" "" "ABCG8(NM_022437.3):c.1756+465T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875878T>C" "" "benign" "" "0000515988" "0" "10" "2" "44104155" "44104155" "subst" "0" "02330" "ABCG8_000153" "g.44104155A>G" "" "" "" "ABCG8(NM_022437.3):c.1757-545A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877016A>G" "" "benign" "" "0000515989" "0" "30" "2" "44104201" "44104201" "subst" "0" "02330" "ABCG8_000154" "g.44104201A>G" "" "" "" "ABCG8(NM_022437.3):c.1757-499A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877062A>G" "" "likely benign" "" "0000515990" "0" "30" "2" "44104705" "44104705" "subst" "4.06078E-6" "02330" "ABCG8_000155" "g.44104705G>A" "" "" "" "ABCG8(NM_022437.3):c.1762G>A (p.A588T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877566G>A" "" "likely benign" "" "0000515991" "0" "50" "2" "44104734" "44104734" "del" "0" "02330" "ABCG8_000156" "g.44104734del" "" "" "" "ABCG8(NM_022437.3):c.1791delG (p.W598Gfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877595del" "" "VUS" "" "0000515992" "0" "50" "2" "44104775" "44104777" "del" "0" "02330" "ABCG8_000157" "g.44104775_44104777del" "" "" "" "ABCG8(NM_022437.3):c.1832_1834delGAA (p.R611del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877636_43877638del" "" "VUS" "" "0000515993" "0" "30" "2" "44104780" "44104780" "subst" "4.87341E-5" "02330" "ABCG8_000158" "g.44104780T>C" "" "" "" "ABCG8(NM_022437.3):c.1837T>C (p.Y613H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877641T>C" "" "likely benign" "" "0000515994" "0" "30" "2" "44104801" "44104801" "subst" "2.43649E-5" "01943" "ABCG8_000159" "g.44104801C>A" "" "" "" "ABCG8(NM_022437.2):c.1858C>A (p.L620I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877662C>A" "" "likely benign" "" "0000515995" "0" "30" "2" "44104837" "44104837" "subst" "0" "02330" "ABCG8_000160" "g.44104837G>C" "" "" "" "ABCG8(NM_022437.3):c.1884+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877698G>C" "" "likely benign" "" "0000515996" "0" "10" "2" "44104837" "44104837" "del" "0" "02330" "ABCG8_000161" "g.44104837del" "" "" "" "ABCG8(NM_022437.3):c.1884+10delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877698del" "" "benign" "" "0000515997" "0" "30" "2" "44104845" "44104845" "subst" "8.12209E-6" "02330" "ABCG8_000162" "g.44104845C>T" "" "" "" "ABCG8(NM_022437.3):c.1884+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877706C>T" "" "likely benign" "" "0000515998" "0" "10" "2" "44104846" "44104846" "subst" "3.2487E-5" "02330" "ABCG8_000163" "g.44104846G>T" "" "" "" "ABCG8(NM_022437.3):c.1884+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877707G>T" "" "benign" "" "0000515999" "0" "10" "2" "44104954" "44104954" "subst" "0.00102767" "02330" "ABCG8_000164" "g.44104954G>A" "" "" "" "ABCG8(NM_022437.3):c.1924G>A (p.A642T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877815G>A" "" "benign" "" "0000516000" "0" "30" "2" "44104971" "44104971" "subst" "0.000694557" "01943" "ABCG8_000071" "g.44104971C>G" "" "" "" "ABCG8(NM_022437.2):c.1941C>G (p.V647=), ABCG8(NM_022437.3):c.1941C>G (p.V647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877832C>G" "" "likely benign" "" "0000516001" "0" "30" "2" "44104971" "44104971" "subst" "0.000694557" "02326" "ABCG8_000071" "g.44104971C>G" "" "" "" "ABCG8(NM_022437.2):c.1941C>G (p.V647=), ABCG8(NM_022437.3):c.1941C>G (p.V647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877832C>G" "" "likely benign" "" "0000516002" "0" "50" "2" "44105041" "44105041" "subst" "0" "02330" "ABCG8_000165" "g.44105041C>G" "" "" "" "ABCG8(NM_022437.3):c.2011C>G (p.Q671E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877902C>G" "" "VUS" "" "0000516003" "0" "30" "2" "44105064" "44105064" "subst" "6.09419E-5" "02330" "ABCG8_000166" "g.44105064C>G" "" "" "" "ABCG8(NM_022437.3):c.*12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877925C>G" "" "likely benign" "" "0000516004" "0" "50" "2" "44105071" "44105071" "subst" "0" "02330" "ABCG8_000167" "g.44105071C>T" "" "" "" "ABCG8(NM_022437.3):c.*19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877932C>T" "" "VUS" "" "0000607952" "0" "30" "2" "44065720" "44065720" "subst" "0.000213909" "02330" "ABCG5_000150" "g.44065720C>T" "" "" "" "ABCG5(NM_022436.3):c.99G>A (p.P33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43838581C>T" "" "likely benign" "" "0000607953" "0" "50" "2" "44066194" "44066194" "subst" "0.000188977" "02330" "ABCG5_000152" "g.44066194T>C" "" "" "" "ABCG8(NM_022437.3):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43839055T>C" "" "VUS" "" "0000607954" "0" "50" "2" "44078854" "44078854" "subst" "1.21939E-5" "02330" "ABCG8_000170" "g.44078854C>T" "" "" "" "ABCG8(NM_022437.3):c.454C>T (p.R152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851715C>T" "" "VUS" "" "0000607955" "0" "50" "2" "44079965" "44079965" "subst" "1.62608E-5" "02330" "ABCG8_000176" "g.44079965G>A" "" "" "" "ABCG8(NM_022437.3):c.922G>A (p.G308S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852826G>A" "" "VUS" "" "0000607956" "0" "50" "2" "44079968" "44079968" "subst" "0" "02330" "ABCG8_000177" "g.44079968T>C" "" "" "" "ABCG8(NM_022437.3):c.925T>C (p.Y309H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852829T>C" "" "VUS" "" "0000607957" "0" "50" "2" "44099256" "44099256" "subst" "3.65744E-5" "02330" "ABCG8_000116" "g.44099256A>T" "" "" "" "ABCG8(NM_022437.2):c.1106A>T (p.D369V), ABCG8(NM_022437.3):c.1106A>T (p.D369V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872117A>T" "" "VUS" "" "0000607958" "0" "50" "2" "44099435" "44099435" "subst" "0.00153915" "01943" "ABCG8_000122" "g.44099435A>T" "" "" "" "ABCG8(NM_022437.2):c.1201A>T (p.T401S), ABCG8(NM_022437.3):c.1201A>T (p.T401S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872296A>T" "" "VUS" "" "0000607959" "0" "10" "2" "44099582" "44099582" "subst" "0" "02330" "ABCG8_000179" "g.44099582G>A" "" "" "" "ABCG8(NM_022437.3):c.1211+137G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43872443G>A" "" "benign" "" "0000607960" "0" "10" "2" "44101229" "44101229" "subst" "0" "02330" "ABCG8_000182" "g.44101229A>G" "" "" "" "ABCG8(NM_022437.3):c.1411+104A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874090A>G" "" "benign" "" "0000607961" "0" "10" "2" "44101430" "44101430" "subst" "0" "02330" "ABCG8_000183" "g.44101430T>G" "" "" "" "ABCG8(NM_022437.3):c.1412-116T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874291T>G" "" "benign" "" "0000607962" "0" "30" "2" "44101537" "44101538" "ins" "2.43742E-5" "02330" "ABCG8_000184" "g.44101537_44101538insTT" "" "" "" "ABCG8(NM_022437.3):c.1412-9_1412-8insTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874398_43874399insTT" "" "likely benign" "" "0000607963" "0" "10" "2" "44101654" "44101655" "dup" "0" "02330" "ABCG8_000185" "g.44101654_44101655dup" "" "" "" "ABCG8(NM_022437.3):c.1488+32_1488+33dupCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874515_43874516dup" "" "benign" "" "0000607964" "0" "10" "2" "44101827" "44101827" "subst" "0" "02330" "ABCG8_000187" "g.44101827G>A" "" "" "" "ABCG8(NM_022437.3):c.1488+205G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874688G>A" "" "benign" "" "0000607965" "0" "10" "2" "44101884" "44101884" "subst" "0" "02330" "ABCG8_000188" "g.44101884T>C" "" "" "" "ABCG8(NM_022437.3):c.1488+262T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874745T>C" "" "benign" "" "0000607966" "0" "10" "2" "44102197" "44102197" "subst" "0" "02330" "ABCG8_000189" "g.44102197T>C" "" "" "" "ABCG8(NM_022437.3):c.1489-88T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875058T>C" "" "benign" "" "0000607967" "0" "30" "2" "44102269" "44102269" "subst" "0" "02330" "ABCG8_000190" "g.44102269G>A" "" "" "" "ABCG8(NM_022437.3):c.1489-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875130G>A" "" "likely benign" "" "0000607968" "0" "30" "2" "44102280" "44102280" "subst" "4.50152E-5" "02330" "ABCG8_000191" "g.44102280T>C" "" "" "" "ABCG8(NM_022437.3):c.1489-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875141T>C" "" "likely benign" "" "0000607969" "0" "50" "2" "44102367" "44102367" "subst" "4.06957E-6" "02330" "ABCG8_000193" "g.44102367G>A" "" "" "" "ABCG8(NM_022437.3):c.1571G>A (p.G524D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875228G>A" "" "VUS" "" "0000607970" "0" "70" "2" "44102382" "44102382" "subst" "0" "02330" "ABCG8_000194" "g.44102382T>C" "" "" "" "ABCG8(NM_022437.3):c.1586T>C (p.L529P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875243T>C" "" "likely pathogenic" "" "0000607971" "0" "50" "2" "44102468" "44102468" "subst" "4.06322E-6" "02330" "ABCG8_000195" "g.44102468A>G" "" "" "" "ABCG8(NM_022437.3):c.1672A>G (p.M558V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875329A>G" "" "VUS" "" "0000607972" "0" "70" "2" "44104692" "44104695" "del" "0" "02330" "ABCG8_000199" "g.44104692_44104695del" "" "" "" "ABCG8(NM_022437.3):c.1757-8_1757-5delGTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877553_43877556del" "" "likely pathogenic" "" "0000607973" "0" "30" "2" "44104758" "44104758" "subst" "2.84294E-5" "02330" "ABCG8_000200" "g.44104758G>A" "" "" "" "ABCG8(NM_022437.3):c.1815G>A (p.K605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877619G>A" "" "likely benign" "" "0000621056" "0" "50" "2" "44065003" "44065003" "subst" "0.000389816" "02325" "ABCG5_000046" "g.44065003C>T" "" "" "" "ABCG5(NM_022436.2):c.235G>A (p.(Gly79Arg)), ABCG5(NM_022436.3):c.235G>A (p.G79R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43837864C>T" "" "VUS" "" "0000621057" "0" "50" "2" "44065778" "44065778" "subst" "4.08403E-6" "02330" "ABCG5_000151" "g.44065778C>A" "" "" "" "ABCG5(NM_022436.3):c.41G>T (p.G14V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43838639C>A" "" "VUS" "" "0000621058" "0" "10" "2" "44072258" "44072259" "del" "0" "02330" "ABCG8_000168" "g.44072258_44072259del" "" "" "" "ABCG8(NM_022437.3):c.165+511_165+512delTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43845119_43845120del" "" "benign" "" "0000621059" "0" "10" "2" "44073656" "44073656" "subst" "0" "02330" "ABCG8_000169" "g.44073656T>C" "" "" "" "ABCG8(NM_022437.3):c.322+206T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43846517T>C" "" "benign" "" "0000621060" "0" "10" "2" "44079004" "44079004" "subst" "0.613216" "02330" "ABCG8_000171" "g.44079004T>C" "" "" "" "ABCG8(NM_022437.3):c.561+43T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43851865T>C" "" "benign" "" "0000621061" "0" "10" "2" "44079310" "44079310" "subst" "0" "02330" "ABCG8_000172" "g.44079310C>A" "" "" "" "ABCG8(NM_022437.3):c.562-183C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852171C>A" "" "benign" "" "0000621062" "0" "10" "2" "44079401" "44079401" "subst" "0" "02330" "ABCG8_000173" "g.44079401G>A" "" "" "" "ABCG8(NM_022437.3):c.562-92G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852262G>A" "" "benign" "" "0000621063" "0" "50" "2" "44079493" "44079493" "subst" "0" "02330" "ABCG8_000174" "g.44079493G>A" "" "" "" "ABCG8(NM_022437.3):c.562G>A (p.V188M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852354G>A" "" "VUS" "" "0000621064" "0" "50" "2" "44079524" "44079524" "subst" "8.94818E-5" "02330" "ABCG8_000175" "g.44079524G>T" "" "" "" "ABCG8(NM_022437.3):c.593G>T (p.R198M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852385G>T" "" "VUS" "" "0000621065" "0" "30" "2" "44080324" "44080324" "subst" "0" "02330" "ABCG8_000178" "g.44080324A>G" "" "" "" "ABCG8(NM_022437.3):c.964+317A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43853185A>G" "" "likely benign" "" "0000621066" "0" "30" "2" "44101007" "44101007" "subst" "6.90473E-5" "02330" "ABCG8_000180" "g.44101007C>T" "" "" "" "ABCG8(NM_022437.3):c.1293C>T (p.I431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43873868C>T" "" "likely benign" "" "0000621067" "0" "90" "2" "44101038" "44101038" "subst" "1.21842E-5" "02330" "ABCG8_000181" "g.44101038C>T" "" "" "" "ABCG8(NM_022437.3):c.1324C>T (p.Q442*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43873899C>T" "" "pathogenic" "" "0000621068" "0" "10" "2" "44101711" "44101711" "subst" "0" "02330" "ABCG8_000186" "g.44101711T>C" "" "" "" "ABCG8(NM_022437.3):c.1488+89T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874572T>C" "" "benign" "" "0000621069" "0" "30" "2" "44102365" "44102365" "subst" "0.000614566" "02330" "ABCG8_000192" "g.44102365A>G" "" "" "" "ABCG8(NM_022437.3):c.1569A>G (p.P523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875226A>G" "" "likely benign" "" "0000621070" "0" "70" "2" "44102469" "44102469" "del" "0" "02330" "ABCG8_000196" "g.44102469del" "" "" "" "ABCG8(NM_022437.3):c.1673delT (p.M558Rfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875330del" "" "likely pathogenic" "" "0000621071" "0" "50" "2" "44102520" "44102520" "subst" "2.44246E-5" "02330" "ABCG8_000197" "g.44102520G>A" "" "" "" "ABCG8(NM_022437.3):c.1724G>A (p.G575D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875381G>A" "" "VUS" "" "0000621072" "0" "30" "2" "44102548" "44102548" "subst" "3.26952E-5" "02330" "ABCG8_000198" "g.44102548G>C" "" "" "" "ABCG8(NM_022437.3):c.1752G>C (p.W584C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875409G>C" "" "likely benign" "" "0000650606" "1" "30" "2" "44079559" "44079559" "subst" "0.00358343" "03575" "ABCG8_000098" "g.44079559G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs9282574}" "Germline" "" "rs9282574" "0" "" "" "g.43852420G>A" "" "likely benign" "" "0000654649" "0" "50" "2" "44065746" "44065746" "subst" "0" "02330" "ABCG5_000164" "g.44065746G>C" "" "" "" "ABCG5(NM_022436.3):c.73C>G (p.L25V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43838607G>C" "" "VUS" "" "0000654650" "0" "50" "2" "44066254" "44066254" "subst" "6.77994E-5" "02330" "ABCG5_000165" "g.44066254C>T" "" "" "" "ABCG8(NM_022437.3):c.62C>T (p.S21L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43839115C>T" "" "VUS" "" "0000654651" "0" "10" "2" "44079671" "44079671" "subst" "0.0493819" "02330" "ABCG8_000201" "g.44079671C>T" "" "" "" "ABCG8(NM_022437.3):c.694+46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43852532C>T" "" "benign" "" "0000654652" "0" "10" "2" "44099057" "44099057" "subst" "0" "02330" "ABCG8_000202" "g.44099057A>G" "" "" "" "ABCG8(NM_022437.3):c.965-58A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43871918A>G" "" "benign" "" "0000654653" "0" "10" "2" "44100871" "44100871" "subst" "0" "02330" "ABCG8_000203" "g.44100871G>A" "" "" "" "ABCG8(NM_022437.3):c.1212-55G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43873732G>A" "" "benign" "" "0000654654" "0" "50" "2" "44101570" "44101570" "subst" "0.000507709" "01943" "ABCG8_000074" "g.44101570A>G" "" "" "" "ABCG8(NM_022437.2):c.1436A>G (p.Y479C), ABCG8(NM_022437.3):c.1436A>G (p.Y479C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43874431A>G" "" "VUS" "" "0000654655" "0" "50" "2" "44102343" "44102343" "subst" "0" "02330" "ABCG8_000204" "g.44102343A>T" "" "" "" "ABCG8(NM_022437.3):c.1547A>T (p.Y516F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875204A>T" "" "VUS" "" "0000654656" "0" "50" "2" "44102364" "44102364" "subst" "0.000671583" "01943" "ABCG8_000051" "g.44102364C>T" "" "" "" "ABCG8(NM_022437.2):c.1568C>T (p.P523L), ABCG8(NM_022437.3):c.1568C>T (p.P523L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43875225C>T" "" "VUS" "" "0000654657" "0" "70" "2" "44105000" "44105000" "subst" "0" "02330" "ABCG8_000205" "g.44105000T>C" "" "" "" "ABCG8(NM_022437.3):c.1970T>C (p.L657P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43877861T>C" "" "likely pathogenic" "" "0000676635" "0" "30" "2" "44066207" "44066207" "subst" "6.74773E-5" "02330" "ABCG5_000168" "g.44066207G>A" "" "" "" "ABCG8(NM_022437.3):c.15G>A (p.A5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676636" "0" "50" "2" "44066262" "44066262" "subst" "0" "02330" "ABCG5_000169" "g.44066262G>A" "" "" "" "ABCG8(NM_022437.3):c.63+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676637" "0" "30" "2" "44078751" "44078751" "subst" "6.10998E-5" "02330" "ABCG8_000206" "g.44078751G>A" "" "" "" "ABCG8(NM_022437.3):c.351G>A (p.V117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676638" "0" "50" "2" "44079486" "44079486" "subst" "4.07854E-6" "02330" "ABCG8_000207" "g.44079486C>A" "" "" "" "ABCG8(NM_022437.3):c.562-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676639" "0" "30" "2" "44079507" "44079507" "subst" "0.000565887" "01943" "ABCG8_000024" "g.44079507C>T" "" "" "" "ABCG8(NM_022437.2):c.576C>T (p.I192=), ABCG8(NM_022437.3):c.576C>T (p.I192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676640" "0" "30" "2" "44079518" "44079518" "subst" "0" "02330" "ABCG8_000208" "g.44079518G>A" "" "" "" "ABCG8(NM_022437.3):c.587G>A (p.R196Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676641" "0" "50" "2" "44079544" "44079544" "subst" "3.25367E-5" "02330" "ABCG8_000209" "g.44079544G>A" "" "" "" "ABCG8(NM_022437.3):c.613G>A (p.V205M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676642" "0" "70" "2" "44099365" "44099384" "del" "0" "02330" "ABCG8_000210" "g.44099365_44099384del" "" "" "" "ABCG8(NM_022437.3):c.1131_1150delCGTGACCCCACTAGACACCA (p.S377Rfs*98)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000676643" "0" "30" "2" "44101033" "44101033" "subst" "0" "02330" "ABCG8_000211" "g.44101033G>T" "" "" "" "ABCG8(NM_022437.3):c.1319G>T (p.S440I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676644" "0" "30" "2" "44101099" "44101099" "subst" "8.12486E-6" "02330" "ABCG8_000212" "g.44101099A>G" "" "" "" "ABCG8(NM_022437.3):c.1385A>G (p.N462S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676645" "0" "70" "2" "44105045" "44105045" "subst" "0" "02330" "ABCG8_000213" "g.44105045A>T" "" "" "" "ABCG8(NM_022437.3):c.2015A>T (p.D672V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688771" "0" "90" "2" "44065074" "44065074" "subst" "0" "02330" "ABCG5_000185" "g.44065074C>T" "" "" "" "ABCG5(NM_022436.3):c.164G>A (p.W55*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688772" "0" "30" "2" "44065419" "44065419" "subst" "0" "02330" "ABCG5_000186" "g.44065419G>A" "" "" "" "ABCG5(NM_022436.3):c.143+257C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688773" "0" "30" "2" "44065936" "44065936" "subst" "0" "02330" "ABCG5_000187" "g.44065936T>G" "" "" "" "ABCG5(NM_022436.3):c.-118A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688774" "0" "10" "2" "44071833" "44071833" "subst" "0" "02330" "ABCG8_000214" "g.44071833A>C" "" "" "" "ABCG8(NM_022437.3):c.165+86A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688775" "0" "10" "2" "44071852" "44071852" "subst" "0" "02330" "ABCG8_000215" "g.44071852G>C" "" "" "" "ABCG8(NM_022437.3):c.165+105G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688776" "0" "10" "2" "44072237" "44072240" "del" "0" "02330" "ABCG8_000216" "g.44072237_44072240del" "" "" "" "ABCG8(NM_022437.3):c.165+490_165+493delGTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688777" "0" "30" "2" "44079474" "44079474" "subst" "0" "02330" "ABCG8_000217" "g.44079474A>G" "" "" "" "ABCG8(NM_022437.3):c.562-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688778" "0" "50" "2" "44079869" "44079869" "subst" "4.06075E-6" "02330" "ABCG8_000218" "g.44079869A>T" "" "" "" "ABCG8(NM_022437.3):c.826A>T (p.I276F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688779" "0" "50" "2" "44080011" "44080011" "subst" "0" "02330" "ABCG8_000219" "g.44080011A>T" "" "" "" "ABCG8(NM_022437.3):c.964+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688780" "0" "10" "2" "44098855" "44098855" "subst" "0" "02330" "ABCG8_000220" "g.44098855T>C" "" "" "" "ABCG8(NM_022437.3):c.965-260T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688781" "0" "30" "2" "44099265" "44099265" "subst" "4.06425E-5" "02330" "ABCG8_000221" "g.44099265C>A" "" "" "" "ABCG8(NM_022437.3):c.1115C>A (p.T372N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688782" "0" "50" "2" "44101620" "44101620" "subst" "0.000146267" "02330" "ABCG8_000222" "g.44101620A>G" "" "" "" "ABCG8(NM_022437.3):c.1486A>G (p.K496E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688783" "0" "10" "2" "44101655" "44101655" "dup" "0" "02330" "ABCG8_000223" "g.44101655dup" "" "" "" "ABCG8(NM_022437.3):c.1488+33dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688784" "0" "10" "2" "44102235" "44102235" "subst" "0.241219" "02330" "ABCG8_000224" "g.44102235T>C" "" "" "" "ABCG8(NM_022437.3):c.1489-50T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688785" "0" "10" "2" "44102634" "44102634" "subst" "0" "02330" "ABCG8_000225" "g.44102634C>T" "" "" "" "ABCG8(NM_022437.3):c.1756+82C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688786" "0" "30" "2" "44102993" "44102993" "subst" "0" "02330" "ABCG8_000226" "g.44102993C>T" "" "" "" "ABCG8(NM_022437.3):c.1756+441C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718794" "0" "30" "2" "44065739" "44065739" "subst" "0.00309547" "01943" "ABCG5_000050" "g.44065739C>G" "" "" "" "ABCG5(NM_022436.2):c.80G>C (p.G27A), ABCG5(NM_022436.3):c.80G>C (p.G27A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718795" "0" "10" "2" "44066174" "44066174" "subst" "0.397894" "02327" "ABCG8_000001" "g.44066174T>G" "" "" "" "ABCG8(NM_022437.3):c.-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718796" "0" "30" "2" "44071632" "44071632" "subst" "6.91968E-5" "02330" "ABCG8_000227" "g.44071632C>T" "" "" "" "ABCG8(NM_022437.3):c.64-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718797" "0" "10" "2" "44071639" "44071639" "subst" "0.444965" "02327" "ABCG8_000005" "g.44071639C>T" "" "" "" "ABCG8(NM_022437.3):c.64-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718798" "0" "50" "2" "44071719" "44071719" "subst" "8.12334E-6" "02330" "ABCG8_000228" "g.44071719C>A" "" "" "" "ABCG8(NM_022437.3):c.137C>A (p.T46N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718799" "0" "30" "2" "44071743" "44071743" "subst" "0.428544" "02327" "ABCG8_000077" "g.44071743A>G" "" "" "" "ABCG8(NM_022437.3):c.161A>G (p.Y54C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718800" "0" "10" "2" "44072145" "44072145" "subst" "0" "02330" "ABCG8_000229" "g.44072145T>G" "" "" "" "ABCG8(NM_022437.3):c.165+398T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718801" "0" "10" "2" "44072237" "44072237" "subst" "0" "02330" "ABCG8_000230" "g.44072237G>A" "" "" "" "ABCG8(NM_022437.3):c.165+490G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718802" "0" "10" "2" "44072237" "44072238" "del" "0" "02330" "ABCG8_000231" "g.44072237_44072238del" "" "" "" "ABCG8(NM_022437.3):c.165+490_165+491delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718803" "0" "50" "2" "44073403" "44073403" "subst" "4.4673E-5" "02330" "ABCG8_000232" "g.44073403G>A" "" "" "" "ABCG8(NM_022437.3):c.275G>A (p.S92N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718804" "0" "50" "2" "44073403" "44073403" "subst" "0" "02330" "ABCG8_000233" "g.44073403G>C" "" "" "" "ABCG8(NM_022437.3):c.275G>C (p.S92T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718805" "0" "30" "2" "44073455" "44073455" "subst" "3.25351E-5" "02330" "ABCG8_000234" "g.44073455C>T" "" "" "" "ABCG8(NM_022437.3):c.322+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718806" "0" "10" "2" "44074642" "44074642" "subst" "0" "02330" "ABCG8_000235" "g.44074642C>G" "" "" "" "ABCG8(NM_022437.3):c.322+1192C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718807" "0" "10" "2" "44074673" "44074673" "subst" "0" "02330" "ABCG8_000236" "g.44074673C>T" "" "" "" "ABCG8(NM_022437.3):c.322+1223C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718808" "0" "70" "2" "44079947" "44079947" "subst" "0" "02330" "ABCG8_000237" "g.44079947C>T" "" "" "" "ABCG8(NM_022437.3):c.904C>T (p.Q302*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718809" "0" "50" "2" "44079965" "44079965" "subst" "4.06521E-6" "02330" "ABCG8_000238" "g.44079965G>T" "" "" "" "ABCG8(NM_022437.3):c.922G>T (p.G308C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718810" "0" "10" "2" "44099433" "44099433" "subst" "0.211645" "02327" "ABCG8_000036" "g.44099433C>A" "" "" "" "ABCG8(NM_022437.3):c.1199C>A (p.T400K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718811" "0" "30" "2" "44101047" "44101047" "subst" "0" "02330" "ABCG8_000239" "g.44101047T>G" "" "" "" "ABCG8(NM_022437.3):c.1333T>G (p.F445V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718812" "0" "30" "2" "44101133" "44101133" "subst" "0.000235983" "02330" "ABCG8_000240" "g.44101133T>A" "" "" "" "ABCG8(NM_022437.3):c.1411+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718813" "0" "30" "2" "44101428" "44101428" "dup" "0" "02330" "ABCG8_000241" "g.44101428dup" "" "" "" "ABCG8(NM_022437.3):c.1412-118dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718814" "0" "10" "2" "44101538" "44101538" "subst" "0.675887" "02327" "ABCG8_000044" "g.44101538C>T" "" "" "" "ABCG8(NM_022437.3):c.1412-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718815" "0" "10" "2" "44101543" "44101543" "dup" "0" "02327" "ABCG8_000242" "g.44101543dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718816" "0" "30" "2" "44102287" "44102287" "subst" "0" "02330" "ABCG8_000243" "g.44102287C>T" "" "" "" "ABCG8(NM_022437.3):c.1491C>T (p.I497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718817" "0" "30" "2" "44102302" "44102302" "subst" "0.00569352" "02327" "ABCG8_000048" "g.44102302G>A" "" "" "" "ABCG8(NM_022437.2):c.1506G>A (p.P502=), ABCG8(NM_022437.3):c.1506G>A (p.P502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718818" "0" "10" "2" "44102491" "44102491" "subst" "0.147055" "02327" "ABCG8_000057" "g.44102491C>T" "" "" "" "ABCG8(NM_022437.3):c.1695C>T (p.A565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718819" "0" "30" "2" "44103881" "44103881" "subst" "0" "02330" "ABCG8_000244" "g.44103881G>T" "" "" "" "ABCG8(NM_022437.3):c.1757-819G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718820" "0" "30" "2" "44104749" "44104749" "subst" "0" "02330" "ABCG8_000245" "g.44104749G>A" "" "" "" "ABCG8(NM_022437.3):c.1806G>A (p.G602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718821" "0" "10" "2" "44104925" "44104925" "subst" "0.841391" "02327" "ABCG8_000068" "g.44104925T>C" "" "" "" "ABCG8(NM_022437.3):c.1895T>C (p.V632A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000783779" "11" "50" "2" "44079966" "44079966" "subst" "0" "01864" "ABCG8_000246" "g.44079966G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000783780" "21" "50" "2" "44100927" "44100927" "subst" "2.84342E-5" "01864" "ABCG8_000126" "g.44100927C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG" "0000783781" "20" "50" "2" "44100925" "44100925" "subst" "0" "01864" "ABCG8_000247" "g.44100925G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000783782" "11" "50" "2" "44102505" "44102507" "del" "0" "01864" "ABCG8_000248" "g.44102505_44102507del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43875366_43875368del" "" "likely pathogenic (recessive)" "ACMG" "0000783783" "21" "50" "2" "44102324" "44102326" "del" "0" "01864" "ABCG8_000249" "g.44102324_44102326del" "" "" "" "1528_1530delATC" "" "Germline" "" "" "0" "" "" "g.43875185_43875187del" "" "likely pathogenic (recessive)" "ACMG" "0000783784" "21" "50" "2" "44079966" "44079966" "subst" "0" "01864" "ABCG8_000246" "g.44079966G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000790063" "11" "70" "2" "44079614" "44079614" "subst" "0" "01864" "ABCG8_000250" "g.44079614T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000800632" "0" "30" "2" "44064784" "44064784" "subst" "0" "02330" "ABCG5_000234" "g.44064784G>A" "" "" "" "ABCG5(NM_022436.3):c.265+189C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800633" "0" "30" "2" "44065769" "44065769" "subst" "0.00031905" "02330" "ABCG5_000235" "g.44065769A>C" "" "" "" "ABCG5(NM_022436.3):c.50T>G (p.V17G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800634" "0" "30" "2" "44071352" "44071352" "subst" "0" "02330" "ABCG8_000251" "g.44071352T>A" "" "" "" "ABCG8(NM_022437.3):c.64-294T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800635" "0" "50" "2" "44071679" "44071679" "subst" "0.000109656" "02330" "ABCG8_000252" "g.44071679G>A" "" "" "" "ABCG8(NM_022437.3):c.97G>A (p.D33N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800636" "0" "30" "2" "44072270" "44072270" "dup" "0" "02330" "ABCG8_000253" "g.44072270dup" "" "" "" "ABCG8(NM_022437.3):c.165+523dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800637" "0" "30" "2" "44072954" "44072954" "subst" "0" "02330" "ABCG8_000254" "g.44072954T>G" "" "" "" "ABCG8(NM_022437.3):c.166-340T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800638" "0" "30" "2" "44073389" "44073389" "subst" "0" "02330" "ABCG8_000255" "g.44073389C>T" "" "" "" "ABCG8(NM_022437.3):c.261C>T (p.G87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800639" "0" "50" "2" "44078830" "44078830" "subst" "2.03188E-5" "02330" "ABCG8_000256" "g.44078830G>A" "" "" "" "ABCG8(NM_022437.3):c.430G>A (p.V144M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800640" "0" "30" "2" "44079931" "44079931" "subst" "6.90473E-5" "02330" "ABCG8_000257" "g.44079931G>T" "" "" "" "ABCG8(NM_022437.3):c.888G>T (p.A296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800641" "0" "50" "2" "44080005" "44080005" "subst" "0" "02330" "ABCG8_000258" "g.44080005A>G" "" "" "" "ABCG8(NM_022437.3):c.962A>G (p.Y321C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800642" "0" "30" "2" "44098629" "44098629" "subst" "0" "02330" "ABCG8_000259" "g.44098629C>G" "" "" "" "ABCG8(NM_022437.3):c.965-486C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800643" "0" "50" "2" "44099258" "44099258" "subst" "8.1285E-6" "02330" "ABCG8_000260" "g.44099258G>A" "" "" "" "ABCG8(NM_022437.3):c.1108G>A (p.E370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800644" "0" "30" "2" "44099365" "44099365" "subst" "1.62713E-5" "02330" "ABCG8_000261" "g.44099365C>T" "" "" "" "ABCG8(NM_022437.3):c.1131C>T (p.S377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800645" "0" "30" "2" "44099374" "44099374" "subst" "0" "02330" "ABCG8_000262" "g.44099374A>G" "" "" "" "ABCG8(NM_022437.3):c.1140A>G (p.P380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800646" "0" "30" "2" "44100077" "44100077" "subst" "0" "02330" "ABCG8_000263" "g.44100077G>A" "" "" "" "ABCG8(NM_022437.3):c.1211+632G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800647" "0" "90" "2" "44101578" "44101578" "del" "2.03084E-5" "02330" "ABCG8_000264" "g.44101578del" "" "" "" "ABCG8(NM_022437.3):c.1444delC (p.L482Wfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800648" "0" "50" "2" "44101585" "44101585" "subst" "0" "02330" "ABCG8_000265" "g.44101585A>G" "" "" "" "ABCG8(NM_022437.3):c.1451A>G (p.D484G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800649" "0" "30" "2" "44101607" "44101607" "subst" "8.93677E-5" "02330" "ABCG8_000266" "g.44101607A>G" "" "" "" "ABCG8(NM_022437.3):c.1473A>G (p.P491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800650" "0" "30" "2" "44102392" "44102392" "subst" "2.4391E-5" "02330" "ABCG8_000267" "g.44102392C>T" "" "" "" "ABCG8(NM_022437.3):c.1596C>T (p.F532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800651" "0" "30" "2" "44102452" "44102452" "subst" "0.00032113" "02330" "ABCG8_000268" "g.44102452G>A" "" "" "" "ABCG8(NM_022437.3):c.1656G>A (p.L552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800652" "0" "30" "2" "44102512" "44102512" "subst" "0.000956109" "02330" "ABCG8_000269" "g.44102512C>T" "" "" "" "ABCG8(NM_022437.3):c.1716C>T (p.L572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800653" "0" "30" "2" "44104764" "44104764" "subst" "4.06144E-6" "02330" "ABCG8_000270" "g.44104764G>A" "" "" "" "ABCG8(NM_022437.3):c.1821G>A (p.Q607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000849891" "0" "50" "2" "44065676" "44065676" "subst" "0" "02330" "ABCG5_000254" "g.44065676C>T" "" "" "" "ABCG5(NM_022436.3):c.143G>A (p.S48N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849892" "0" "50" "2" "44065788" "44065788" "subst" "0" "02330" "ABCG5_000255" "g.44065788C>T" "" "" "" "ABCG5(NM_022436.3):c.31G>A (p.G11R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849893" "0" "30" "2" "44065792" "44065792" "subst" "0.000950951" "02326" "ABCG5_000052" "g.44065792G>A" "" "" "" "ABCG5(NM_022436.3):c.27C>T (p.P9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849894" "0" "50" "2" "44066220" "44066220" "subst" "0" "02330" "ABCG5_000256" "g.44066220G>A" "" "" "" "ABCG8(NM_022437.3):c.28G>A (p.G10R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849895" "0" "30" "2" "44066221" "44066221" "subst" "6.745E-6" "01943" "ABCG5_000121" "g.44066221G>C" "" "" "" "ABCG8(NM_022437.2):c.29G>C (p.G10A), ABCG8(NM_022437.3):c.29G>C (p.G10A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849896" "0" "30" "2" "44066267" "44066267" "subst" "0" "02330" "ABCG5_000257" "g.44066267A>G" "" "" "" "ABCG8(NM_022437.3):c.63+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849897" "0" "50" "2" "44071646" "44071646" "subst" "2.03194E-5" "02325" "ABCG8_000006" "g.44071646G>A" "" "" "" "ABCG8(NM_022437.3):c.64G>A (p.G22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849898" "0" "50" "2" "44078833" "44078833" "subst" "0" "02330" "ABCG8_000273" "g.44078833A>G" "" "" "" "ABCG8(NM_022437.3):c.433A>G (p.R145G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849899" "0" "50" "2" "44079860" "44079860" "subst" "0" "02330" "ABCG8_000277" "g.44079860C>A" "" "" "" "ABCG8(NM_022437.3):c.817C>A (p.R273S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849900" "0" "30" "2" "44099357" "44099357" "subst" "4.06772E-6" "02330" "ABCG8_000279" "g.44099357C>T" "" "" "" "ABCG8(NM_022437.3):c.1128-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849901" "0" "50" "2" "44101119" "44101119" "subst" "0" "02330" "ABCG8_000285" "g.44101119T>C" "" "" "" "ABCG8(NM_022437.3):c.1405T>C (p.S469P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849902" "0" "50" "2" "44101120" "44101120" "subst" "0" "02330" "ABCG8_000286" "g.44101120C>T" "" "" "" "ABCG8(NM_022437.3):c.1406C>T (p.S469F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849903" "0" "70" "2" "44101126" "44101126" "subst" "4.06679E-6" "02330" "ABCG8_000287" "g.44101126G>A" "" "" "" "ABCG8(NM_022437.3):c.1411+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000849904" "0" "30" "2" "44101586" "44101586" "subst" "2.84342E-5" "02330" "ABCG8_000288" "g.44101586C>T" "" "" "" "ABCG8(NM_022437.3):c.1452C>T (p.D484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849905" "0" "50" "2" "44102370" "44102370" "subst" "0" "02330" "ABCG8_000289" "g.44102370T>G" "" "" "" "ABCG8(NM_022437.3):c.1574T>G (p.L525R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849906" "0" "30" "2" "44102450" "44102450" "subst" "0" "02330" "ABCG8_000290" "g.44102450C>T" "" "" "" "ABCG8(NM_022437.3):c.1654C>T (p.L552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849907" "0" "30" "2" "44104728" "44104728" "subst" "0.000974596" "02326" "ABCG8_000066" "g.44104728C>T" "" "" "" "ABCG8(NM_022437.3):c.1785C>T (p.F595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849908" "0" "50" "2" "44104788" "44104788" "subst" "2.03056E-5" "02330" "ABCG8_000292" "g.44104788G>C" "" "" "" "ABCG8(NM_022437.3):c.1845G>C (p.M615I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858538" "0" "30" "2" "44065054" "44065054" "subst" "0" "02330" "ABCG5_000253" "g.44065054G>T" "" "" "" "ABCG5(NM_022436.3):c.184C>A (p.Q62K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858539" "0" "50" "2" "44073390" "44073390" "subst" "0" "02330" "ABCG8_000271" "g.44073390A>G" "" "" "" "ABCG8(NM_022437.3):c.262A>G (p.I88V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858540" "0" "70" "2" "44078808" "44078808" "del" "0" "02330" "ABCG8_000272" "g.44078808del" "" "" "" "ABCG8(NM_022437.3):c.408delG (p.Q137Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858541" "0" "50" "2" "44078919" "44078919" "subst" "1.63373E-5" "02330" "ABCG8_000274" "g.44078919G>A" "" "" "" "ABCG8(NM_022437.3):c.519G>A (p.M173I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858542" "0" "30" "2" "44079731" "44079731" "subst" "0.000101817" "02330" "ABCG8_000275" "g.44079731T>C" "" "" "" "ABCG8(NM_022437.3):c.695-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858543" "0" "50" "2" "44079767" "44079767" "subst" "0" "02330" "ABCG8_000276" "g.44079767G>A" "" "" "" "ABCG8(NM_022437.3):c.724G>A (p.G242R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858544" "0" "50" "2" "44099211" "44099211" "subst" "2.84486E-5" "02330" "ABCG8_000278" "g.44099211G>A" "" "" "" "ABCG8(NM_022437.3):c.1061G>A (p.R354H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858545" "0" "90" "2" "44099233" "44099233" "subst" "0.000946877" "01804" "ABCG8_000033" "g.44099233G>A" "" "" "" "ABCG8(NM_022437.2):c.1083G>A (p.(Trp361*)), ABCG8(NM_022437.3):c.1083G>A (p.W361*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858546" "0" "10" "2" "44100849" "44100849" "subst" "0" "02330" "ABCG8_000280" "g.44100849T>C" "" "" "" "ABCG8(NM_022437.3):c.1212-77T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858547" "0" "50" "2" "44100970" "44100970" "subst" "7.71724E-5" "02330" "ABCG8_000281" "g.44100970T>A" "" "" "" "ABCG8(NM_022437.3):c.1256T>A (p.I419N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858548" "0" "30" "2" "44100971" "44100971" "subst" "6.90479E-5" "02330" "ABCG8_000282" "g.44100971C>A" "" "" "" "ABCG8(NM_022437.3):c.1257C>A (p.I419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858549" "0" "50" "2" "44101060" "44101060" "subst" "4.06171E-6" "02330" "ABCG8_000283" "g.44101060C>T" "" "" "" "ABCG8(NM_022437.3):c.1346C>T (p.A449V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858550" "0" "30" "2" "44101061" "44101061" "subst" "9.74778E-5" "02330" "ABCG8_000284" "g.44101061C>T" "" "" "" "ABCG8(NM_022437.3):c.1347C>T (p.A449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858551" "0" "70" "2" "44102511" "44102511" "subst" "8.95044E-5" "01804" "ABCG8_000148" "g.44102511T>C" "" "" "" "ABCG8(NM_022437.2):c.1715T>C (p.(Leu572Pro)), ABCG8(NM_022437.3):c.1715T>C (p.L572P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858552" "0" "10" "2" "44104613" "44104614" "del" "0" "02330" "ABCG8_000291" "g.44104613_44104614del" "" "" "" "ABCG8(NM_022437.3):c.1757-87_1757-86delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885180" "0" "30" "2" "44064963" "44064963" "subst" "0.000105589" "02326" "ABCG5_000044" "g.44064963C>T" "" "" "" "ABCG5(NM_022436.3):c.265+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885181" "0" "90" "2" "44064986" "44064986" "del" "0" "02330" "ABCG5_000287" "g.44064986del" "" "" "" "ABCG5(NM_022436.3):c.253delC (p.L85*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885182" "0" "70" "2" "44065082" "44065102" "dup" "0" "02330" "ABCG5_000288" "g.44065082_44065102dup" "" "" "" "ABCG5(NM_022436.3):c.157_158insTTTAAAGCCACCGCGTGAGGC (p.P53delinsL*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885183" "0" "30" "2" "44065894" "44065894" "subst" "0" "02330" "ABCG5_000289" "g.44065894G>A" "" "" "" "ABCG5(NM_022436.3):c.-76C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885184" "0" "30" "2" "44066219" "44066219" "subst" "0" "02330" "ABCG5_000290" "g.44066219A>G" "" "" "" "ABCG8(NM_022437.3):c.27A>G (p.R9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885185" "0" "30" "2" "44066270" "44066271" "del" "0" "02330" "ABCG5_000291" "g.44066270_44066271del" "" "" "" "ABCG8(NM_022437.3):c.63+15_63+16delGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885186" "0" "30" "2" "44066544" "44066544" "subst" "0" "02330" "ABCG5_000292" "g.44066544T>C" "" "" "" "ABCG8(NM_022437.3):c.63+289T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885187" "0" "50" "2" "44071697" "44071697" "subst" "0" "02330" "ABCG8_000293" "g.44071697A>T" "" "" "" "ABCG8(NM_022437.3):c.115A>T (p.T39S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885188" "0" "30" "2" "44071788" "44071788" "subst" "0.00863147" "02330" "ABCG8_000294" "g.44071788G>A" "" "" "" "ABCG8(NM_022437.3):c.165+41G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885189" "0" "30" "2" "44073275" "44073275" "subst" "0" "02330" "ABCG8_000295" "g.44073275T>G" "" "" "" "ABCG8(NM_022437.3):c.166-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885190" "0" "90" "2" "44073448" "44073448" "subst" "2.03252E-5" "02330" "ABCG8_000296" "g.44073448C>G" "" "" "" "ABCG8(NM_022437.3):c.320C>G (p.S107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885191" "0" "50" "2" "44079563" "44079563" "subst" "0" "02330" "ABCG8_000297" "g.44079563G>T" "" "" "" "ABCG8(NM_022437.3):c.632G>T (p.R211L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885192" "0" "30" "2" "44079754" "44079754" "subst" "4.06679E-6" "02330" "ABCG8_000298" "g.44079754C>T" "" "" "" "ABCG8(NM_022437.3):c.711C>T (p.D237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885193" "0" "50" "2" "44079755" "44079755" "subst" "0.000870131" "02325" "ABCG8_000028" "g.44079755G>A" "" "" "" "ABCG8(NM_022437.3):c.712G>A (p.E238K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885194" "0" "30" "2" "44079772" "44079772" "subst" "0.000158517" "02330" "ABCG8_000299" "g.44079772C>T" "" "" "" "ABCG8(NM_022437.3):c.729C>T (p.L243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885195" "0" "50" "2" "44079861" "44079861" "subst" "2.84273E-5" "02330" "ABCG8_000300" "g.44079861G>A" "" "" "" "ABCG8(NM_022437.3):c.818G>A (p.R273H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885196" "0" "30" "2" "44079931" "44079931" "subst" "4.06161E-6" "02330" "ABCG8_000301" "g.44079931G>A" "" "" "" "ABCG8(NM_022437.3):c.888G>A (p.A296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885197" "0" "10" "2" "44098565" "44098565" "subst" "0" "02330" "ABCG8_000302" "g.44098565G>A" "" "" "" "ABCG8(NM_022437.3):c.965-550G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885198" "0" "10" "2" "44098606" "44098606" "subst" "0" "02330" "ABCG8_000303" "g.44098606G>A" "" "" "" "ABCG8(NM_022437.3):c.965-509G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885199" "0" "50" "2" "44099127" "44099127" "subst" "5.69685E-5" "02330" "ABCG8_000304" "g.44099127G>A" "" "" "" "ABCG8(NM_022437.3):c.977G>A (p.S326N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885200" "0" "50" "2" "44099138" "44099138" "subst" "4.06802E-6" "02330" "ABCG8_000305" "g.44099138C>T" "" "" "" "ABCG8(NM_022437.3):c.988C>T (p.R330C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885201" "0" "30" "2" "44099167" "44099167" "subst" "1.21972E-5" "02330" "ABCG8_000306" "g.44099167G>A" "" "" "" "ABCG8(NM_022437.3):c.1017G>A (p.R339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885202" "0" "50" "2" "44099174" "44099174" "subst" "0.000264258" "02330" "ABCG8_000307" "g.44099174G>T" "" "" "" "ABCG8(NM_022437.3):c.1024G>T (p.A342S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885203" "0" "30" "2" "44099357" "44099357" "subst" "4.06772E-6" "02325" "ABCG8_000279" "g.44099357C>T" "" "" "" "ABCG8(NM_022437.3):c.1128-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885204" "0" "30" "2" "44100601" "44100601" "subst" "0" "02330" "ABCG8_000308" "g.44100601G>A" "" "" "" "ABCG8(NM_022437.3):c.1212-325G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885205" "0" "50" "2" "44100995" "44100995" "subst" "0" "02330" "ABCG8_000309" "g.44100995G>A" "" "" "" "ABCG8(NM_022437.3):c.1281G>A (p.M427I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885206" "0" "50" "2" "44101077" "44101077" "subst" "0" "02330" "ABCG8_000310" "g.44101077A>G" "" "" "" "ABCG8(NM_022437.3):c.1363A>G (p.I455V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885207" "0" "50" "2" "44101563" "44101563" "subst" "4.06161E-6" "02330" "ABCG8_000311" "g.44101563A>G" "" "" "" "ABCG8(NM_022437.3):c.1429A>G (p.M477V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885208" "0" "30" "2" "44101640" "44101640" "subst" "0" "02330" "ABCG8_000312" "g.44101640A>T" "" "" "" "ABCG8(NM_022437.3):c.1488+18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885209" "0" "70" "2" "44102284" "44102284" "subst" "0" "02330" "ABCG8_000313" "g.44102284G>T" "" "" "" "ABCG8(NM_022437.3):c.1489-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885210" "0" "50" "2" "44102305" "44102305" "subst" "0" "02330" "ABCG8_000314" "g.44102305G>C" "" "" "" "ABCG8(NM_022437.3):c.1509G>C (p.E503D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885211" "0" "50" "2" "44102345" "44102345" "subst" "2.85067E-5" "02330" "ABCG8_000315" "g.44102345T>C" "" "" "" "ABCG8(NM_022437.3):c.1549T>C (p.W517R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885212" "0" "30" "2" "44102446" "44102446" "subst" "6.09702E-5" "02330" "ABCG8_000316" "g.44102446G>A" "" "" "" "ABCG8(NM_022437.3):c.1650G>A (p.A550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885213" "0" "50" "2" "44102549" "44102549" "subst" "5.31167E-5" "02330" "ABCG8_000317" "g.44102549A>T" "" "" "" "ABCG8(NM_022437.3):c.1753A>T (p.T585S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885214" "0" "50" "2" "44104755" "44104755" "subst" "0" "02330" "ABCG8_000318" "g.44104755G>A" "" "" "" "ABCG8(NM_022437.3):c.1812G>A (p.M604I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885215" "0" "30" "2" "44104908" "44104908" "subst" "0" "02330" "ABCG8_000319" "g.44104908T>C" "" "" "" "ABCG8(NM_022437.3):c.1885-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911706" "0" "50" "2" "44065084" "44065084" "subst" "0" "02330" "ABCG5_000301" "g.44065084T>C" "" "" "" "ABCG5(NM_022436.3):c.154A>G (p.R52G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911707" "0" "50" "2" "44065758" "44065758" "subst" "0" "02330" "ABCG5_000302" "g.44065758A>C" "" "" "" "ABCG5(NM_022436.3):c.61T>G (p.S21A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911708" "0" "70" "2" "44066195" "44066195" "subst" "0" "02330" "ABCG5_000303" "g.44066195G>T" "" "" "" "ABCG8(NM_022437.3):c.3G>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911709" "0" "50" "2" "44078920" "44078920" "subst" "2.45104E-5" "02330" "ABCG8_000320" "g.44078920C>T" "" "" "" "ABCG8(NM_022437.3):c.520C>T (p.R174W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911710" "0" "30" "2" "44079573" "44079573" "subst" "3.66381E-5" "02330" "ABCG8_000321" "g.44079573G>A" "" "" "" "ABCG8(NM_022437.3):c.642G>A (p.S214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911711" "0" "50" "2" "44079630" "44079630" "subst" "0.000179933" "02330" "ABCG8_000322" "g.44079630G>C" "" "" "" "ABCG8(NM_022437.3):c.694+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911712" "0" "30" "2" "44079913" "44079913" "subst" "0.00032081" "02330" "ABCG8_000323" "g.44079913C>T" "" "" "" "ABCG8(NM_022437.3):c.870C>T (p.T290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911713" "0" "30" "2" "44099291" "44099291" "subst" "2.84669E-5" "02326" "ABCG8_000118" "g.44099291C>T" "" "" "" "ABCG8(NM_022437.3):c.1127+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911714" "0" "30" "2" "44102434" "44102434" "subst" "1.62554E-5" "02330" "ABCG8_000324" "g.44102434C>T" "" "" "" "ABCG8(NM_022437.3):c.1638C>T (p.A546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911715" "0" "50" "2" "44104966" "44104966" "subst" "4.0618E-6" "02330" "ABCG8_000325" "g.44104966A>G" "" "" "" "ABCG8(NM_022437.3):c.1936A>G (p.I646V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923702" "0" "50" "2" "44101606" "44101606" "subst" "4.06204E-6" "02330" "ABCG8_000326" "g.44101606C>T" "" "" "" "ABCG8(NM_022437.3):c.1472C>T (p.P491L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923703" "0" "50" "2" "44102328" "44102328" "subst" "0" "02330" "ABCG8_000327" "g.44102328A>G" "" "" "" "ABCG8(NM_022437.3):c.1532A>G (p.Y511C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923704" "0" "50" "2" "44102465" "44102465" "subst" "0" "02330" "ABCG8_000328" "g.44102465C>G" "" "" "" "ABCG8(NM_022437.3):c.1669C>G (p.H557D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923705" "0" "30" "2" "44102561" "44102561" "del" "0" "02330" "ABCG8_000329" "g.44102561del" "" "" "" "ABCG8(NM_022437.3):c.1756+9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923706" "0" "30" "2" "44104954" "44104954" "subst" "0.00102767" "02326" "ABCG8_000164" "g.44104954G>A" "" "" "" "ABCG8(NM_022437.3):c.1924G>A (p.A642T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923707" "0" "50" "2" "44104957" "44104957" "subst" "0" "02330" "ABCG8_000330" "g.44104957A>C" "" "" "" "ABCG8(NM_022437.3):c.1927A>C (p.I643L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928597" "0" "50" "2" "44065069" "44065069" "subst" "0" "02330" "ABCG5_000315" "g.44065069T>C" "" "" "" "ABCG5(NM_022436.3):c.169A>G (p.I57V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928598" "0" "30" "2" "44066264" "44066264" "subst" "6.79902E-6" "02330" "ABCG5_000316" "g.44066264G>C" "" "" "" "ABCG8(NM_022437.3):c.63+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928599" "0" "30" "2" "44079727" "44079727" "subst" "4.07432E-6" "02330" "ABCG8_000331" "g.44079727G>T" "" "" "" "ABCG8(NM_022437.3):c.695-11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928600" "0" "50" "2" "44099223" "44099223" "subst" "0" "02330" "ABCG8_000332" "g.44099223A>T" "" "" "" "ABCG8(NM_022437.3):c.1073A>T (p.D358V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928601" "0" "30" "2" "44102350" "44102350" "subst" "0" "02330" "ABCG8_000333" "g.44102350G>T" "" "" "" "ABCG8(NM_022437.3):c.1554G>T (p.L518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928602" "0" "30" "2" "44104725" "44104725" "subst" "0.000877129" "02326" "ABCG8_000065" "g.44104725C>T" "" "" "" "ABCG8(NM_022437.3):c.1782C>T (p.S594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947866" "0" "30" "2" "44066557" "44066583" "del" "0" "02330" "ABCG5_000331" "g.44066557_44066583del" "" "" "" "ABCG8(NM_022437.3):c.63+302_63+328delTTTTTTTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947867" "0" "10" "2" "44070639" "44070639" "subst" "0" "02330" "ABCG5_000332" "g.44070639T>C" "" "" "" "ABCG8(NM_022437.3):c.64-1007T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947868" "0" "30" "2" "44078970" "44078970" "subst" "1.23064E-5" "02330" "ABCG8_000334" "g.44078970C>A" "" "" "" "ABCG8(NM_022437.3):c.561+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947869" "0" "50" "2" "44079608" "44079608" "subst" "0" "02330" "ABCG8_000335" "g.44079608A>G" "" "" "" "ABCG8(NM_022437.3):c.677A>G (p.Q226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947870" "0" "30" "2" "44079778" "44079778" "subst" "0" "02330" "ABCG8_000336" "g.44079778C>T" "" "" "" "ABCG8(NM_022437.3):c.735C>T (p.S245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947871" "0" "70" "2" "44079970" "44079970" "subst" "0" "02330" "ABCG8_000337" "g.44079970C>A" "" "" "" "ABCG8(NM_022437.3):c.927C>A (p.Y309*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947872" "0" "50" "2" "44100979" "44100979" "subst" "3.65545E-5" "02330" "ABCG8_000338" "g.44100979C>T" "" "" "" "ABCG8(NM_022437.3):c.1265C>T (p.A422V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947873" "0" "30" "2" "44101010" "44101010" "subst" "0" "02330" "ABCG8_000339" "g.44101010C>T" "" "" "" "ABCG8(NM_022437.3):c.1296C>T (p.G432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947874" "0" "50" "2" "44102382" "44102382" "subst" "0" "02325" "ABCG8_000194" "g.44102382T>C" "" "" "" "ABCG8(NM_022437.3):c.1586T>C (p.L529P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947875" "0" "70" "2" "44102436" "44102436" "subst" "0" "02330" "ABCG8_000340" "g.44102436T>C" "" "" "" "ABCG8(NM_022437.3):c.1640T>C (p.L547P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947876" "0" "50" "2" "44102501" "44102501" "subst" "4.06636E-6" "02330" "ABCG8_000341" "g.44102501T>C" "" "" "" "ABCG8(NM_022437.3):c.1705T>C (p.S569P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947877" "0" "30" "2" "44102567" "44102567" "subst" "0.00260167" "02326" "ABCG8_000062" "g.44102567C>T" "" "" "" "ABCG8(NM_022437.3):c.1756+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947878" "0" "30" "2" "44104684" "44104684" "subst" "0" "02330" "ABCG8_000342" "g.44104684G>A" "" "" "" "ABCG8(NM_022437.3):c.1757-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947879" "0" "50" "2" "44104805" "44104805" "subst" "0" "02330" "ABCG8_000343" "g.44104805C>T" "" "" "" "ABCG8(NM_022437.3):c.1862C>T (p.T621I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962102" "0" "50" "2" "44065083" "44065083" "subst" "0" "02330" "ABCG5_000340" "g.44065083C>A" "" "" "" "ABCG5(NM_022436.3):c.155G>T (p.R52M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962103" "0" "50" "2" "44079768" "44079768" "subst" "0" "02330" "ABCG8_000344" "g.44079768G>C" "" "" "" "ABCG8(NM_022437.3):c.725G>C (p.G242A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962104" "0" "50" "2" "44079903" "44079903" "subst" "2.43641E-5" "02330" "ABCG8_000345" "g.44079903C>T" "" "" "" "ABCG8(NM_022437.3):c.860C>T (p.T287M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962105" "0" "70" "2" "44099126" "44099126" "dup" "0" "02330" "ABCG8_000346" "g.44099126dup" "" "" "" "ABCG8(NM_022437.3):c.976dupA (p.S326Kfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000962106" "0" "50" "2" "44099127" "44099127" "subst" "1.22075E-5" "02330" "ABCG8_000347" "g.44099127G>T" "" "" "" "ABCG8(NM_022437.3):c.977G>T (p.S326I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962107" "0" "50" "2" "44099192" "44099192" "subst" "0" "02330" "ABCG8_000348" "g.44099192C>G" "" "" "" "ABCG8(NM_022437.3):c.1042C>G (p.L348V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962108" "0" "30" "2" "44101100" "44101100" "subst" "0.000398164" "02326" "ABCG8_000041" "g.44101100C>T" "" "" "" "ABCG8(NM_022437.3):c.1386C>T (p.N462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962109" "0" "30" "2" "44102509" "44102509" "subst" "1.22036E-5" "02330" "ABCG8_000349" "g.44102509C>T" "" "" "" "ABCG8(NM_022437.3):c.1713C>T (p.Y571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975278" "0" "50" "2" "44065015" "44065015" "subst" "4.06055E-6" "02330" "ABCG5_000348" "g.44065015A>G" "" "" "" "ABCG5(NM_022436.3):c.223T>C (p.Y75H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975279" "0" "90" "2" "44066202" "44066203" "ins" "0" "02330" "ABCG5_000349" "g.44066202_44066203insT" "" "" "" "ABCG8(NM_022437.3):c.10_11insT (p.K4Ifs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975280" "0" "30" "2" "44066567" "44066583" "del" "0" "02330" "ABCG5_000350" "g.44066567_44066583del" "" "" "" "ABCG8(NM_022437.3):c.63+312_63+328delTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975281" "0" "30" "2" "44098826" "44098826" "subst" "0" "02330" "ABCG8_000350" "g.44098826G>T" "" "" "" "ABCG8(NM_022437.3):c.965-289G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975282" "0" "30" "2" "44099634" "44099634" "subst" "0" "02330" "ABCG8_000351" "g.44099634G>A" "" "" "" "ABCG8(NM_022437.3):c.1211+189G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975283" "0" "50" "2" "44101112" "44101112" "subst" "0" "02330" "ABCG8_000352" "g.44101112T>G" "" "" "" "ABCG8(NM_022437.3):c.1398T>G (p.D466E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975284" "0" "30" "2" "44102281" "44102281" "subst" "8.18444E-6" "02330" "ABCG8_000353" "g.44102281G>A" "" "" "" "ABCG8(NM_022437.3):c.1489-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975285" "0" "50" "2" "44102387" "44102387" "subst" "0" "02330" "ABCG8_000354" "g.44102387C>T" "" "" "" "ABCG8(NM_022437.3):c.1591C>T (p.H531Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992865" "0" "50" "2" "44065003" "44065003" "subst" "0.000389816" "01804" "ABCG5_000046" "g.44065003C>T" "" "" "" "ABCG5(NM_022436.2):c.235G>A (p.(Gly79Arg)), ABCG5(NM_022436.3):c.235G>A (p.G79R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992866" "0" "50" "2" "44065056" "44065056" "subst" "0" "02330" "ABCG5_000360" "g.44065056C>A" "" "" "" "ABCG5(NM_022436.3):c.182G>T (p.R61L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992867" "0" "30" "2" "44071688" "44071688" "subst" "1.62452E-5" "02330" "ABCG8_000355" "g.44071688C>T" "" "" "" "ABCG8(NM_022437.3):c.106C>T (p.L36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992868" "0" "30" "2" "44078805" "44078805" "subst" "1.21917E-5" "02330" "ABCG8_000356" "g.44078805T>C" "" "" "" "ABCG8(NM_022437.3):c.405T>C (p.N135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992869" "0" "50" "2" "44100993" "44100993" "subst" "4.06151E-6" "02330" "ABCG8_000357" "g.44100993A>G" "" "" "" "ABCG8(NM_022437.3):c.1279A>G (p.M427V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992871" "0" "50" "2" "44104996" "44104996" "subst" "0" "02330" "ABCG8_000358" "g.44104996G>T" "" "" "" "ABCG8(NM_022437.3):c.1966G>T (p.V656F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013732" "0" "50" "2" "44079515" "44079515" "subst" "4.06878E-6" "02330" "ABCG8_000359" "g.44079515T>A" "" "" "" "ABCG8(NM_022437.3):c.584T>A (p.L195Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013733" "0" "30" "2" "44099351" "44099351" "subst" "0" "02330" "ABCG8_000360" "g.44099351C>T" "" "" "" "ABCG8(NM_022437.3):c.1128-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013734" "0" "30" "2" "44100913" "44100913" "subst" "1.62489E-5" "02330" "ABCG8_000361" "g.44100913T>C" "" "" "" "ABCG8(NM_022437.3):c.1212-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013735" "0" "50" "2" "44101092" "44101092" "subst" "0" "02330" "ABCG8_000362" "g.44101092C>T" "" "" "" "ABCG8(NM_022437.3):c.1378C>T (p.P460S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013736" "0" "30" "2" "44102271" "44102271" "subst" "8.19001E-6" "02330" "ABCG8_000363" "g.44102271G>T" "" "" "" "ABCG8(NM_022437.3):c.1489-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013737" "0" "30" "2" "44102569" "44102569" "subst" "0" "02330" "ABCG8_000364" "g.44102569G>C" "" "" "" "ABCG8(NM_022437.3):c.1756+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024584" "0" "30" "2" "44065040" "44065040" "subst" "0" "02330" "ABCG5_000373" "g.44065040C>T" "" "" "" "ABCG5(NM_022436.3):c.198G>A (p.R66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024585" "0" "30" "2" "44065113" "44065113" "subst" "0" "02330" "ABCG5_000374" "g.44065113G>A" "" "" "" "ABCG5(NM_022436.3):c.144-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024586" "0" "50" "2" "44065796" "44065796" "subst" "0" "02330" "ABCG5_000375" "g.44065796G>T" "" "" "" "ABCG5(NM_022436.3):c.23C>A (p.T8N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024587" "0" "30" "2" "44066228" "44066228" "subst" "2.02435E-5" "02330" "ABCG5_000376" "g.44066228G>A" "" "" "" "ABCG8(NM_022437.3):c.36G>A (p.P12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024588" "0" "30" "2" "44073455" "44073455" "subst" "0" "02330" "ABCG8_000365" "g.44073455C>G" "" "" "" "ABCG8(NM_022437.3):c.322+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024589" "0" "50" "2" "44078812" "44078812" "subst" "0" "02330" "ABCG8_000366" "g.44078812C>A" "" "" "" "ABCG8(NM_022437.3):c.412C>A (p.P138T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024590" "0" "50" "2" "44099168" "44099168" "subst" "3.25272E-5" "02330" "ABCG8_000367" "g.44099168G>A" "" "" "" "ABCG8(NM_022437.3):c.1018G>A (p.E340K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024591" "0" "50" "2" "44100981" "44100981" "subst" "1.6247E-5" "02330" "ABCG8_000368" "g.44100981G>A" "" "" "" "ABCG8(NM_022437.3):c.1267G>A (p.E423K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024592" "0" "50" "2" "44101578" "44101578" "subst" "0" "02330" "ABCG8_000369" "g.44101578C>G" "" "" "" "ABCG8(NM_022437.3):c.1444C>G (p.L482V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024593" "0" "50" "2" "44102265" "44102265" "subst" "0" "02330" "ABCG8_000370" "g.44102265G>T" "" "" "" "ABCG8(NM_022437.3):c.1489-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024594" "0" "70" "2" "44102404" "44102404" "subst" "1.62579E-5" "02330" "ABCG8_000371" "g.44102404G>A" "" "" "" "ABCG8(NM_022437.3):c.1608G>A (p.W536*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033336" "0" "50" "2" "44078891" "44078891" "subst" "0.000582447" "02325" "ABCG8_000023" "g.44078891G>A" "" "" "" "ABCG8(NM_022437.3):c.491G>A (p.R164Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033337" "0" "50" "2" "44079752" "44079752" "subst" "3.6608E-5" "02330" "ABCG8_000372" "g.44079752G>A" "" "" "" "ABCG8(NM_022437.3):c.709G>A (p.D237N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033338" "0" "50" "2" "44079765" "44079765" "subst" "0.000308895" "02325" "ABCG8_000029" "g.44079765C>T" "" "" "" "ABCG8(NM_022437.3):c.722C>T (p.S241F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033339" "0" "50" "2" "44080012" "44080012" "subst" "0" "02330" "ABCG8_000373" "g.44080012G>A" "" "" "" "ABCG8(NM_022437.3):c.964+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033340" "0" "50" "2" "44100939" "44100939" "subst" "0.000442733" "02325" "ABCG8_000073" "g.44100939A>G" "" "" "" "ABCG8(NM_022437.3):c.1225A>G (p.N409D)" "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 ABCG8 ## Count = 489 "{{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}}" "0000245854" "00001894" "10" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Ile127Val)" "" "0000245859" "00001894" "10" "1402" "0" "1402" "0" "c.1402A>G" "r.(?)" "p.(Ile468Val)" "" "0000245865" "00001894" "10" "1285" "0" "1285" "0" "c.1285A>G" "r.(?)" "p.(Met429Val)" "" "0000245866" "00001894" "10" "1963" "0" "1963" "0" "c.1963A>G" "r.(?)" "p.(Met655Val)" "" "0000245946" "00001894" "10" "-15" "0" "-15" "0" "c.-15A>C" "r.(?)" "p.(=)" "" "0000245978" "00001894" "30" "76" "0" "76" "0" "c.76A>G" "r.(?)" "p.(Arg26Gly)" "" "0000245979" "00001894" "30" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Ser32Gly)" "" "0000245989" "00001894" "30" "1211" "7" "1211" "7" "c.1211+7A>T" "r.(=)" "p.(=)" "" "0000245997" "00001894" "70" "-1200" "0" "-1200" "0" "c.-1200A>G" "r.(?)" "p.(=)" "" "0000246002" "00001894" "50" "1436" "0" "1436" "0" "c.1436A>G" "r.(?)" "p.(Tyr479Cys)" "" "0000246058" "00001894" "70" "1225" "0" "1225" "0" "c.1225A>G" "r.(?)" "p.(Asn409Asp)" "" "0000246089" "00001894" "50" "1922" "0" "1922" "0" "c.1922A>T" "r.(?)" "p.(Tyr641Phe)" "" "0000257056" "00001894" "10" "-1103" "0" "-1103" "0" "c.-1103G>A" "r.(?)" "p.(=)" "" "0000257068" "00001894" "10" "-1174" "0" "-1174" "0" "c.-1174G>C" "r.(?)" "p.(=)" "" "0000257069" "00001894" "50" "-1190" "0" "-1190" "0" "c.-1190C>T" "r.(?)" "p.(=)" "" "0000257070" "00001894" "10" "-1230" "0" "-1230" "0" "c.-1230C>T" "r.(?)" "p.(=)" "" "0000257071" "00001894" "10" "-401" "0" "-401" "0" "c.-401G>A" "r.(?)" "p.(=)" "" "0000257086" "00001894" "30" "-452" "0" "-452" "0" "c.-452C>A" "r.(?)" "p.(=)" "" "0000257087" "00001894" "10" "-454" "0" "-454" "0" "c.-454C>G" "r.(?)" "p.(=)" "" "0000257090" "00001894" "30" "-468" "0" "-468" "0" "c.-468C>T" "r.(?)" "p.(=)" "" "0000257091" "00001894" "10" "-19" "0" "-19" "0" "c.-19T>G" "r.(?)" "p.(=)" "" "0000257092" "00001894" "90" "1083" "0" "1083" "0" "c.1083G>A" "r.(?)" "p.(Trp361Ter)" "" "0000257093" "00001894" "30" "1160" "0" "1160" "0" "c.1160C>T" "r.(?)" "p.(Pro387Leu)" "" "0000257094" "00001894" "30" "1186" "0" "1186" "0" "c.1186G>C" "r.(?)" "p.(Val396Leu)" "" "0000257095" "00001894" "10" "1199" "0" "1199" "0" "c.1199C>A" "r.(?)" "p.(Thr400Lys)" "" "0000257096" "00001894" "10" "1200" "0" "1200" "0" "c.1200G>A" "r.(?)" "p.(Thr400=)" "" "0000257097" "00001894" "10" "1266" "0" "1266" "0" "c.1266G>A" "r.(?)" "p.(Ala422=)" "" "0000257098" "00001894" "90" "1269" "0" "1269" "0" "c.1269G>T" "r.(?)" "p.(Glu423Asp)" "" "0000257099" "00001894" "10" "1386" "0" "1386" "0" "c.1386C>T" "r.(?)" "p.(Asn462=)" "" "0000257100" "00001894" "10" "1412" "-8" "1412" "-8" "c.1412-8C>T" "r.(=)" "p.(=)" "" "0000257102" "00001894" "70" "1463" "0" "1463" "0" "c.1463C>A" "r.(?)" "p.(Thr488Asn)" "" "0000257103" "00001894" "10" "1488" "9" "1488" "9" "c.1488+9G>A" "r.(=)" "p.(=)" "" "0000257104" "00001894" "70" "1488" "0" "1488" "0" "c.1488G>C" "r.(?)" "p.(Lys496Asn)" "" "0000257105" "00001894" "10" "1506" "0" "1506" "0" "c.1506G>A" "r.(?)" "p.(Pro502=)" "" "0000257106" "00001894" "10" "1523" "0" "1523" "0" "c.1523T>C" "r.(?)" "p.(Ile508Thr)" "" "0000257107" "00001894" "70" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Ile510Thr)" "" "0000257108" "00001894" "70" "154" "0" "154" "0" "c.154C>G" "r.(?)" "p.(Leu52Val)" "" "0000257109" "00001894" "50" "1568" "0" "1568" "0" "c.1568C>T" "r.(?)" "p.(Pro523Leu)" "" "0000257110" "00001894" "90" "1629" "0" "1629" "0" "c.1629G>T" "r.(?)" "p.(Arg543Ser)" "" "0000257111" "00001894" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Ala550Thr)" "" "0000257112" "00001894" "10" "165" "13" "165" "13" "c.165+13C>T" "r.(=)" "p.(=)" "" "0000257114" "00001894" "50" "1689" "0" "1689" "0" "c.1689C>G" "r.(?)" "p.(Ser563Arg)" "" "0000257115" "00001894" "10" "1695" "0" "1695" "0" "c.1695C>T" "r.(?)" "p.(Ala565=)" "" "0000257116" "00001894" "50" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Ala573Val)" "" "0000257117" "00001894" "50" "171" "0" "171" "0" "c.171C>A" "r.(?)" "p.(Asp57Glu)" "" "0000257118" "00001894" "70" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Gly574Arg)" "" "0000257119" "00001894" "90" "1721" "0" "1721" "0" "c.1721G>A" "r.(?)" "p.(Gly574Glu)" "" "0000257120" "00001894" "90" "1723" "0" "1723" "0" "c.1723G>C" "r.(?)" "p.(Gly575Arg)" "" "0000257121" "00001894" "10" "1756" "15" "1756" "15" "c.1756+15C>T" "r.(=)" "p.(=)" "" "0000257122" "00001894" "30" "1756" "16" "1756" "16" "c.1756+16G>A" "r.(=)" "p.(=)" "" "0000257123" "00001894" "50" "1763" "0" "1763" "0" "c.1763C>A" "r.(?)" "p.(Ala588Glu)" "" "0000257124" "00001894" "10" "1782" "0" "1782" "0" "c.1782C>T" "r.(?)" "p.(Ser594=)" "" "0000257125" "00001894" "10" "1785" "0" "1785" "0" "c.1785C>T" "r.(?)" "p.(Phe595=)" "" "0000257126" "00001894" "10" "1839" "0" "1839" "0" "c.1839T>C" "r.(?)" "p.(Tyr613=)" "" "0000257127" "00001894" "10" "1895" "0" "1895" "0" "c.1895T>C" "r.(?)" "p.(Val632Ala)" "" "0000257128" "00001894" "10" "1911" "0" "1911" "0" "c.1911G>C" "r.(?)" "p.(Ser637=)" "" "0000257129" "00001894" "10" "1941" "0" "1941" "0" "c.1941C>G" "r.(?)" "p.(Val647=)" "" "0000257130" "00001894" "50" "220" "0" "220" "0" "c.220C>G" "r.(?)" "p.(Pro74Ala)" "" "0000257131" "00001894" "10" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Cys80Tyr)" "" "0000257132" "00001894" "30" "322" "6" "322" "6" "c.322+6G>A" "r.(=)" "p.(=)" "" "0000257133" "00001894" "10" "342" "0" "342" "0" "c.342G>A" "r.(?)" "p.(Leu114=)" "" "0000257134" "00001894" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Ter)" "" "0000257135" "00001894" "10" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(His123=)" "" "0000257136" "00001894" "30" "381" "0" "381" "0" "c.381C>T" "r.(?)" "p.(Ile127=)" "" "0000257137" "00001894" "50" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Leu)" "" "0000257138" "00001894" "90" "450" "0" "450" "0" "c.450C>A" "r.(?)" "p.(His150Gln)" "" "0000257139" "00001894" "10" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Val151=)" "" "0000257140" "00001894" "50" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164Gln)" "" "0000257141" "00001894" "10" "51" "0" "51" "0" "c.51C>A" "r.(?)" "p.(Pro17=)" "" "0000257142" "00001894" "10" "55" "0" "55" "0" "c.55G>C" "r.(?)" "p.(Asp19His)" "" "0000257143" "00001894" "10" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Ile192=)" "" "0000257144" "00001894" "50" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "" "0000257145" "00001894" "10" "64" "-7" "64" "-7" "c.64-7C>T" "r.(=)" "p.(=)" "" "0000257146" "00001894" "10" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Gly22Ser)" "" "0000257147" "00001894" "10" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Val225=)" "" "0000257148" "00001894" "10" "695" "-13" "695" "-12" "c.695-13_695-12del" "r.(=)" "p.(=)" "" "0000257149" "00001894" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Glu238Lys)" "" "0000257150" "00001894" "50" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Ser241Phe)" "" "0000257151" "00001894" "90" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Gln)" "" "0000257152" "00001894" "90" "965" "-1" "965" "-1" "c.965-1G>C" "r.spl?" "p.?" "" "0000257153" "00001894" "50" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Arg330His)" "" "0000258707" "00001894" "10" "1199" "0" "1199" "0" "c.1199C>A" "r.(?)" "p.(Thr400Lys)" "" "0000258708" "00001894" "10" "1412" "-8" "1412" "-8" "c.1412-8C>T" "r.(=)" "p.(=)" "" "0000258709" "00001894" "10" "1695" "0" "1695" "0" "c.1695C>T" "r.(?)" "p.(Ala565=)" "" "0000258710" "00001894" "10" "1895" "0" "1895" "0" "c.1895T>C" "r.(?)" "p.(Val632Ala)" "" "0000258711" "00001894" "10" "64" "-7" "64" "-7" "c.64-7C>T" "r.(=)" "p.(=)" "" "0000260476" "00001894" "10" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Cys80Tyr)" "" "0000261729" "00001894" "30" "1579" "0" "1579" "0" "c.1579C>A" "r.(?)" "p.(Pro527Thr)" "" "0000351206" "00001894" "70" "965" "-1" "965" "-1" "c.965-1G>C" "r.spl?" "p.?" "" "0000515888" "00001894" "50" "-1197" "0" "-1197" "0" "c.-1197A>G" "r.(?)" "p.(=)" "" "0000515889" "00001894" "50" "-1193" "0" "-1193" "0" "c.-1193G>T" "r.(?)" "p.(=)" "" "0000515890" "00001894" "50" "-1137" "0" "-1137" "0" "c.-1137C>T" "r.(?)" "p.(=)" "" "0000515891" "00001894" "50" "-513" "0" "-513" "0" "c.-513C>A" "r.(?)" "p.(=)" "" "0000515892" "00001894" "50" "-513" "0" "-513" "0" "c.-513C>T" "r.(?)" "p.(=)" "" "0000515893" "00001894" "50" "-512" "0" "-512" "0" "c.-512G>T" "r.(?)" "p.(=)" "" "0000515894" "00001894" "10" "-454" "0" "-454" "0" "c.-454C>G" "r.(?)" "p.(=)" "" "0000515895" "00001894" "90" "-438" "0" "-438" "0" "c.-438G>A" "r.(?)" "p.(=)" "" "0000515896" "00001894" "30" "-411" "0" "-411" "0" "c.-411T>C" "r.(?)" "p.(=)" "" "0000515897" "00001894" "30" "-407" "0" "-407" "0" "c.-407C>A" "r.(?)" "p.(=)" "" "0000515898" "00001894" "50" "-4" "0" "-4" "0" "c.-4C>T" "r.(?)" "p.(=)" "" "0000515899" "00001894" "30" "29" "0" "29" "0" "c.29G>C" "r.(?)" "p.(Gly10Ala)" "" "0000515900" "00001894" "50" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Pro12Leu)" "" "0000515901" "00001894" "50" "51" "0" "63" "0" "c.51_63dup" "r.(?)" "p.(Gly22ProfsTer9)" "" "0000515902" "00001894" "10" "55" "0" "55" "0" "c.55G>C" "r.(?)" "p.(Asp19His)" "" "0000515903" "00001894" "30" "64" "-21" "64" "-21" "c.64-21C>A" "r.(=)" "p.(=)" "" "0000515904" "00001894" "10" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Tyr54Cys)" "" "0000515905" "00001894" "10" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Tyr54Cys)" "" "0000515906" "00001894" "70" "165" "3" "165" "3" "c.165+3A>G" "r.spl?" "p.?" "" "0000515907" "00001894" "10" "166" "-718" "166" "-718" "c.166-718G>T" "r.(=)" "p.(=)" "" "0000515908" "00001894" "50" "169" "0" "169" "0" "c.169G>C" "r.(?)" "p.(Asp57His)" "" "0000515909" "00001894" "30" "270" "0" "270" "0" "c.270C>G" "r.(?)" "p.(Asn90Lys)" "" "0000515910" "00001894" "10" "322" "431" "322" "431" "c.322+431T>C" "r.(=)" "p.(=)" "" "0000515911" "00001894" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Ile118=)" "" "0000515912" "00001894" "70" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000515913" "00001894" "30" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.(Gly124=)" "" "0000515914" "00001894" "30" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Lys128=)" "" "0000515915" "00001894" "50" "406" "0" "406" "0" "c.406G>T" "r.(?)" "p.(Gly136Trp)" "" "0000515916" "00001894" "90" "441" "0" "441" "0" "c.441T>A" "r.(?)" "p.(Cys147Ter)" "" "0000515917" "00001894" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(His150=)" "" "0000515918" "00001894" "50" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Val151Met)" "" "0000515919" "00001894" "50" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "" "0000515920" "00001894" "30" "561" "14" "561" "14" "c.561+14C>T" "r.(=)" "p.(=)" "" "0000515921" "00001894" "30" "561" "17" "561" "17" "c.561+17A>C" "r.(=)" "p.(=)" "" "0000515922" "00001894" "30" "561" "19" "561" "19" "c.561+19T>C" "r.(=)" "p.(=)" "" "0000515923" "00001894" "50" "562" "0" "562" "0" "c.562G>C" "r.(?)" "p.(Val188Leu)" "" "0000515924" "00001894" "50" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Ala193Val)" "" "0000515925" "00001894" "70" "619" "0" "619" "0" "c.619A>G" "r.(?)" "p.(Asn207Asp)" "" "0000515926" "00001894" "30" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Val210Met)" "" "0000515927" "00001894" "10" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Val210Met)" "" "0000515928" "00001894" "70" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Arg211Gln)" "" "0000515929" "00001894" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Ser214Leu)" "" "0000515930" "00001894" "30" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(Leu236=)" "" "0000515931" "00001894" "70" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Asp244Asn)" "" "0000515932" "00001894" "50" "734" "0" "734" "0" "c.734G>C" "r.(?)" "p.(Ser245Thr)" "" "0000515933" "00001894" "70" "782" "0" "782" "0" "c.782G>T" "r.(?)" "p.(Gly261Val)" "" "0000515934" "00001894" "30" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Ala296Val)" "" "0000515935" "00001894" "50" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Met300Val)" "" "0000515936" "00001894" "70" "927" "0" "927" "0" "c.927C>G" "r.(?)" "p.(Tyr309Ter)" "" "0000515937" "00001894" "50" "928" "0" "928" "0" "c.928C>G" "r.(?)" "p.(Pro310Ala)" "" "0000515938" "00001894" "50" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Arg313His)" "" "0000515939" "00001894" "30" "965" "-19" "965" "-19" "c.965-19C>G" "r.(=)" "p.(=)" "" "0000515940" "00001894" "50" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Ala346Thr)" "" "0000515941" "00001894" "30" "1041" "0" "1041" "0" "c.1041C>A" "r.(?)" "p.(Ala347=)" "" "0000515942" "00001894" "50" "1061" "0" "1061" "0" "c.1061G>T" "r.(?)" "p.(Arg354Leu)" "" "0000515943" "00001894" "50" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Thr365Ala)" "" "0000515944" "00001894" "50" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Thr365Met)" "" "0000515945" "00001894" "30" "1106" "0" "1106" "0" "c.1106A>T" "r.(?)" "p.(Asp369Val)" "" "0000515946" "00001894" "30" "1117" "0" "1117" "0" "c.1117T>C" "r.(?)" "p.(Cys373Arg)" "" "0000515947" "00001894" "50" "1127" "14" "1127" "14" "c.1127+14C>T" "r.(=)" "p.(=)" "" "0000515948" "00001894" "50" "1153" "0" "1153" "0" "c.1153T>C" "r.(?)" "p.(Cys385Arg)" "" "0000515949" "00001894" "30" "1160" "0" "1160" "0" "c.1160C>T" "r.(?)" "p.(Pro387Leu)" "" "0000515950" "00001894" "10" "1170" "0" "1170" "0" "c.1170G>A" "r.(?)" "p.(Thr390=)" "" "0000515951" "00001894" "30" "1185" "0" "1185" "0" "c.1185G>A" "r.(?)" "p.(Ala395=)" "" "0000515952" "00001894" "50" "1201" "0" "1201" "0" "c.1201A>T" "r.(?)" "p.(Thr401Ser)" "" "0000515953" "00001894" "30" "1201" "0" "1201" "0" "c.1201A>T" "r.(?)" "p.(Thr401Ser)" "" "0000515954" "00001894" "50" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Cys)" "" "0000515955" "00001894" "30" "1211" "9" "1211" "10" "c.1211+9_1211+10del" "r.(=)" "p.(=)" "" "0000515956" "00001894" "30" "1212" "-19" "1212" "-19" "c.1212-19C>G" "r.(=)" "p.(=)" "" "0000515957" "00001894" "70" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405Cys)" "" "0000515958" "00001894" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405His)" "" "0000515959" "00001894" "50" "1226" "0" "1226" "0" "c.1226A>G" "r.(?)" "p.(Asn409Ser)" "" "0000515960" "00001894" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Ter)" "" "0000515961" "00001894" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Ter)" "" "0000515962" "00001894" "90" "1235" "0" "1235" "0" "c.1235G>A" "r.(?)" "p.(Arg412Gln)" "" "0000515963" "00001894" "70" "1271" "0" "1271" "0" "c.1271C>A" "r.(?)" "p.(Ala424Asp)" "" "0000515964" "00001894" "10" "1365" "0" "1365" "0" "c.1365C>T" "r.(?)" "p.(Ile455=)" "" "0000515965" "00001894" "10" "1411" "90" "1411" "90" "c.1411+90del" "r.(=)" "p.(=)" "" "0000515966" "00001894" "10" "1412" "-152" "1412" "-152" "c.1412-152A>G" "r.(=)" "p.(=)" "" "0000515967" "00001894" "10" "1412" "-9" "1412" "-8" "c.1412-9_1412-8insT" "r.(=)" "p.(=)" "" "0000515968" "00001894" "10" "1416" "0" "1416" "0" "c.1416C>T" "r.(?)" "p.(Tyr472=)" "" "0000515969" "00001894" "70" "1418" "0" "1418" "0" "c.1418C>A" "r.(?)" "p.(Ser473Ter)" "" "0000515970" "00001894" "50" "1436" "0" "1436" "0" "c.1436A>G" "r.(?)" "p.(Tyr479Cys)" "" "0000515971" "00001894" "30" "1488" "5" "1488" "5" "c.1488+5C>T" "r.spl?" "p.?" "" "0000515972" "00001894" "30" "1488" "31" "1488" "33" "c.1488+31_1488+33dup" "r.(=)" "p.(=)" "" "0000515973" "00001894" "50" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Gly499Arg)" "" "0000515974" "00001894" "30" "1506" "0" "1506" "0" "c.1506G>A" "r.(?)" "p.(Pro502=)" "" "0000515975" "00001894" "30" "1533" "0" "1533" "0" "c.1533C>T" "r.(?)" "p.(Tyr511=)" "" "0000515976" "00001894" "50" "1534" "0" "1534" "0" "c.1534G>A" "r.(?)" "p.(Gly512Arg)" "" "0000515977" "00001894" "50" "1598" "0" "1598" "0" "c.1598T>G" "r.(?)" "p.(Leu533Arg)" "" "0000515978" "00001894" "50" "1619" "0" "1619" "0" "c.1619T>C" "r.(?)" "p.(Phe540Ser)" "" "0000515979" "00001894" "30" "1644" "0" "1644" "0" "c.1644C>T" "r.(?)" "p.(Ala548=)" "" "0000515980" "00001894" "30" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Ala549Thr)" "" "0000515981" "00001894" "50" "1700" "0" "1700" "0" "c.1700A>C" "r.(?)" "p.(Tyr567Ser)" "" "0000515982" "00001894" "70" "1715" "0" "1715" "0" "c.1715T>C" "r.(?)" "p.(Leu572Pro)" "" "0000515983" "00001894" "50" "1715" "0" "1715" "0" "c.1715T>C" "r.(?)" "p.(Leu572Pro)" "" "0000515984" "00001894" "50" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Ala573Thr)" "" "0000515985" "00001894" "50" "1739" "0" "1739" "0" "c.1739T>C" "r.(?)" "p.(Leu580Ser)" "" "0000515986" "00001894" "30" "1756" "8" "1756" "8" "c.1756+8C>T" "r.(=)" "p.(=)" "" "0000515987" "00001894" "10" "1756" "465" "1756" "465" "c.1756+465T>C" "r.(=)" "p.(=)" "" "0000515988" "00001894" "10" "1757" "-545" "1757" "-545" "c.1757-545A>G" "r.(=)" "p.(=)" "" "0000515989" "00001894" "30" "1757" "-499" "1757" "-499" "c.1757-499A>G" "r.(=)" "p.(=)" "" "0000515990" "00001894" "30" "1762" "0" "1762" "0" "c.1762G>A" "r.(?)" "p.(Ala588Thr)" "" "0000515991" "00001894" "50" "1791" "0" "1791" "0" "c.1791del" "r.(?)" "p.(Trp598GlyfsTer6)" "" "0000515992" "00001894" "50" "1832" "0" "1834" "0" "c.1832_1834del" "r.(?)" "p.(Arg611del)" "" "0000515993" "00001894" "30" "1837" "0" "1837" "0" "c.1837T>C" "r.(?)" "p.(Tyr613His)" "" "0000515994" "00001894" "30" "1858" "0" "1858" "0" "c.1858C>A" "r.(?)" "p.(Leu620Ile)" "" "0000515995" "00001894" "30" "1884" "10" "1884" "10" "c.1884+10G>C" "r.(=)" "p.(=)" "" "0000515996" "00001894" "10" "1884" "10" "1884" "10" "c.1884+10del" "r.(=)" "p.(=)" "" "0000515997" "00001894" "30" "1884" "18" "1884" "18" "c.1884+18C>T" "r.(=)" "p.(=)" "" "0000515998" "00001894" "10" "1884" "19" "1884" "19" "c.1884+19G>T" "r.(=)" "p.(=)" "" "0000515999" "00001894" "10" "1924" "0" "1924" "0" "c.1924G>A" "r.(?)" "p.(Ala642Thr)" "" "0000516000" "00001894" "30" "1941" "0" "1941" "0" "c.1941C>G" "r.(?)" "p.(Val647=)" "" "0000516001" "00001894" "30" "1941" "0" "1941" "0" "c.1941C>G" "r.(?)" "p.(Val647=)" "" "0000516002" "00001894" "50" "2011" "0" "2011" "0" "c.2011C>G" "r.(?)" "p.(Gln671Glu)" "" "0000516003" "00001894" "30" "2034" "0" "2034" "0" "c.*12C>G" "r.(=)" "p.(=)" "" "0000516004" "00001894" "50" "2041" "0" "2041" "0" "c.*19C>T" "r.(=)" "p.(=)" "" "0000607952" "00001894" "30" "-473" "0" "-473" "0" "c.-473C>T" "r.(?)" "p.(=)" "" "0000607953" "00001894" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000607954" "00001894" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "" "0000607955" "00001894" "50" "922" "0" "922" "0" "c.922G>A" "r.(?)" "p.(Gly308Ser)" "" "0000607956" "00001894" "50" "925" "0" "925" "0" "c.925T>C" "r.(?)" "p.(Tyr309His)" "" "0000607957" "00001894" "50" "1106" "0" "1106" "0" "c.1106A>T" "r.(?)" "p.(Asp369Val)" "" "0000607958" "00001894" "50" "1201" "0" "1201" "0" "c.1201A>T" "r.(?)" "p.(Thr401Ser)" "" "0000607959" "00001894" "10" "1211" "137" "1211" "137" "c.1211+137G>A" "r.(=)" "p.(=)" "" "0000607960" "00001894" "10" "1411" "104" "1411" "104" "c.1411+104A>G" "r.(=)" "p.(=)" "" "0000607961" "00001894" "10" "1412" "-116" "1412" "-116" "c.1412-116T>G" "r.(=)" "p.(=)" "" "0000607962" "00001894" "30" "1412" "-9" "1412" "-8" "c.1412-9_1412-8insTT" "r.(=)" "p.(=)" "" "0000607963" "00001894" "10" "1488" "32" "1488" "33" "c.1488+32_1488+33dup" "r.(=)" "p.(=)" "" "0000607964" "00001894" "10" "1488" "205" "1488" "205" "c.1488+205G>A" "r.(=)" "p.(=)" "" "0000607965" "00001894" "10" "1488" "262" "1488" "262" "c.1488+262T>C" "r.(=)" "p.(=)" "" "0000607966" "00001894" "10" "1489" "-88" "1489" "-88" "c.1489-88T>C" "r.(=)" "p.(=)" "" "0000607967" "00001894" "30" "1489" "-16" "1489" "-16" "c.1489-16G>A" "r.(=)" "p.(=)" "" "0000607968" "00001894" "30" "1489" "-5" "1489" "-5" "c.1489-5T>C" "r.spl?" "p.?" "" "0000607969" "00001894" "50" "1571" "0" "1571" "0" "c.1571G>A" "r.(?)" "p.(Gly524Asp)" "" "0000607970" "00001894" "70" "1586" "0" "1586" "0" "c.1586T>C" "r.(?)" "p.(Leu529Pro)" "" "0000607971" "00001894" "50" "1672" "0" "1672" "0" "c.1672A>G" "r.(?)" "p.(Met558Val)" "" "0000607972" "00001894" "70" "1757" "-8" "1757" "-5" "c.1757-8_1757-5del" "r.spl?" "p.?" "" "0000607973" "00001894" "30" "1815" "0" "1815" "0" "c.1815G>A" "r.(?)" "p.(Lys605=)" "" "0000621056" "00001894" "50" "-1190" "0" "-1190" "0" "c.-1190C>T" "r.(?)" "p.(=)" "" "0000621057" "00001894" "50" "-415" "0" "-415" "0" "c.-415C>A" "r.(?)" "p.(=)" "" "0000621058" "00001894" "10" "165" "511" "165" "512" "c.165+511_165+512del" "r.(=)" "p.(=)" "" "0000621059" "00001894" "10" "322" "206" "322" "206" "c.322+206T>C" "r.(=)" "p.(=)" "" "0000621060" "00001894" "10" "561" "43" "561" "43" "c.561+43T>C" "r.(=)" "p.(=)" "" "0000621061" "00001894" "10" "562" "-183" "562" "-183" "c.562-183C>A" "r.(=)" "p.(=)" "" "0000621062" "00001894" "10" "562" "-92" "562" "-92" "c.562-92G>A" "r.(=)" "p.(=)" "" "0000621063" "00001894" "50" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Val188Met)" "" "0000621064" "00001894" "50" "593" "0" "593" "0" "c.593G>T" "r.(?)" "p.(Arg198Met)" "" "0000621065" "00001894" "30" "964" "317" "964" "317" "c.964+317A>G" "r.(=)" "p.(=)" "" "0000621066" "00001894" "30" "1293" "0" "1293" "0" "c.1293C>T" "r.(?)" "p.(Ile431=)" "" "0000621067" "00001894" "90" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Gln442Ter)" "" "0000621068" "00001894" "10" "1488" "89" "1488" "89" "c.1488+89T>C" "r.(=)" "p.(=)" "" "0000621069" "00001894" "30" "1569" "0" "1569" "0" "c.1569A>G" "r.(?)" "p.(Pro523=)" "" "0000621070" "00001894" "70" "1673" "0" "1673" "0" "c.1673del" "r.(?)" "p.(Met558ArgfsTer20)" "" "0000621071" "00001894" "50" "1724" "0" "1724" "0" "c.1724G>A" "r.(?)" "p.(Gly575Asp)" "" "0000621072" "00001894" "30" "1752" "0" "1752" "0" "c.1752G>C" "r.(?)" "p.(Trp584Cys)" "" "0000650606" "00001894" "30" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Val210Met)" "" "0000654649" "00001894" "50" "-447" "0" "-447" "0" "c.-447G>C" "r.(?)" "p.(=)" "" "0000654650" "00001894" "50" "62" "0" "62" "0" "c.62C>T" "r.(?)" "p.(Ser21Leu)" "" "0000654651" "00001894" "10" "694" "46" "694" "46" "c.694+46C>T" "r.(=)" "p.(=)" "" "0000654652" "00001894" "10" "965" "-58" "965" "-58" "c.965-58A>G" "r.(=)" "p.(=)" "" "0000654653" "00001894" "10" "1212" "-55" "1212" "-55" "c.1212-55G>A" "r.(=)" "p.(=)" "" "0000654654" "00001894" "50" "1436" "0" "1436" "0" "c.1436A>G" "r.(?)" "p.(Tyr479Cys)" "" "0000654655" "00001894" "50" "1547" "0" "1547" "0" "c.1547A>T" "r.(?)" "p.(Tyr516Phe)" "" "0000654656" "00001894" "50" "1568" "0" "1568" "0" "c.1568C>T" "r.(?)" "p.(Pro523Leu)" "" "0000654657" "00001894" "70" "1970" "0" "1970" "0" "c.1970T>C" "r.(?)" "p.(Leu657Pro)" "" "0000676635" "00001894" "30" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(Ala5=)" "" "0000676636" "00001894" "50" "63" "7" "63" "7" "c.63+7G>A" "r.(=)" "p.(=)" "" "0000676637" "00001894" "30" "351" "0" "351" "0" "c.351G>A" "r.(?)" "p.(Val117=)" "" "0000676638" "00001894" "50" "562" "-7" "562" "-7" "c.562-7C>A" "r.(=)" "p.(=)" "" "0000676639" "00001894" "30" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Ile192=)" "" "0000676640" "00001894" "30" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196Gln)" "" "0000676641" "00001894" "50" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Val205Met)" "" "0000676642" "00001894" "70" "1131" "0" "1150" "0" "c.1131_1150del" "r.(?)" "p.(Ser377ArgfsTer98)" "" "0000676643" "00001894" "30" "1319" "0" "1319" "0" "c.1319G>T" "r.(?)" "p.(Ser440Ile)" "" "0000676644" "00001894" "30" "1385" "0" "1385" "0" "c.1385A>G" "r.(?)" "p.(Asn462Ser)" "" "0000676645" "00001894" "70" "2015" "0" "2015" "0" "c.2015A>T" "r.(?)" "p.(Asp672Val)" "" "0000688771" "00001894" "90" "-1119" "0" "-1119" "0" "c.-1119C>T" "r.(?)" "p.(=)" "" "0000688772" "00001894" "30" "-774" "0" "-774" "0" "c.-774G>A" "r.(?)" "p.(=)" "" "0000688773" "00001894" "30" "-257" "0" "-257" "0" "c.-257T>G" "r.(?)" "p.(=)" "" "0000688774" "00001894" "10" "165" "86" "165" "86" "c.165+86A>C" "r.(=)" "p.(=)" "" "0000688775" "00001894" "10" "165" "105" "165" "105" "c.165+105G>C" "r.(=)" "p.(=)" "" "0000688776" "00001894" "10" "165" "490" "165" "493" "c.165+490_165+493del" "r.(=)" "p.(=)" "" "0000688777" "00001894" "30" "562" "-19" "562" "-19" "c.562-19A>G" "r.(=)" "p.(=)" "" "0000688778" "00001894" "50" "826" "0" "826" "0" "c.826A>T" "r.(?)" "p.(Ile276Phe)" "" "0000688779" "00001894" "50" "964" "4" "964" "4" "c.964+4A>T" "r.spl?" "p.?" "" "0000688780" "00001894" "10" "965" "-260" "965" "-260" "c.965-260T>C" "r.(=)" "p.(=)" "" "0000688781" "00001894" "30" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Thr372Asn)" "" "0000688782" "00001894" "50" "1486" "0" "1486" "0" "c.1486A>G" "r.(?)" "p.(Lys496Glu)" "" "0000688783" "00001894" "10" "1488" "33" "1488" "33" "c.1488+33dup" "r.(=)" "p.(=)" "" "0000688784" "00001894" "10" "1489" "-50" "1489" "-50" "c.1489-50T>C" "r.(=)" "p.(=)" "" "0000688785" "00001894" "10" "1756" "82" "1756" "82" "c.1756+82C>T" "r.(=)" "p.(=)" "" "0000688786" "00001894" "30" "1756" "441" "1756" "441" "c.1756+441C>T" "r.(=)" "p.(=)" "" "0000718794" "00001894" "30" "-454" "0" "-454" "0" "c.-454C>G" "r.(?)" "p.(=)" "" "0000718795" "00001894" "10" "-19" "0" "-19" "0" "c.-19T>G" "r.(?)" "p.(=)" "" "0000718796" "00001894" "30" "64" "-14" "64" "-14" "c.64-14C>T" "r.(=)" "p.(=)" "" "0000718797" "00001894" "10" "64" "-7" "64" "-7" "c.64-7C>T" "r.(=)" "p.(=)" "" "0000718798" "00001894" "50" "137" "0" "137" "0" "c.137C>A" "r.(?)" "p.(Thr46Asn)" "" "0000718799" "00001894" "30" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Tyr54Cys)" "" "0000718800" "00001894" "10" "165" "398" "165" "398" "c.165+398T>G" "r.(=)" "p.(=)" "" "0000718801" "00001894" "10" "165" "490" "165" "490" "c.165+490G>A" "r.(=)" "p.(=)" "" "0000718802" "00001894" "10" "165" "490" "165" "491" "c.165+490_165+491del" "r.(=)" "p.(=)" "" "0000718803" "00001894" "50" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Ser92Asn)" "" "0000718804" "00001894" "50" "275" "0" "275" "0" "c.275G>C" "r.(?)" "p.(Ser92Thr)" "" "0000718805" "00001894" "30" "322" "5" "322" "5" "c.322+5C>T" "r.spl?" "p.?" "" "0000718806" "00001894" "10" "322" "1192" "322" "1192" "c.322+1192C>G" "r.(=)" "p.(=)" "" "0000718807" "00001894" "10" "322" "1223" "322" "1223" "c.322+1223C>T" "r.(=)" "p.(=)" "" "0000718808" "00001894" "70" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Gln302*)" "" "0000718809" "00001894" "50" "922" "0" "922" "0" "c.922G>T" "r.(?)" "p.(Gly308Cys)" "" "0000718810" "00001894" "10" "1199" "0" "1199" "0" "c.1199C>A" "r.(?)" "p.(Thr400Lys)" "" "0000718811" "00001894" "30" "1333" "0" "1333" "0" "c.1333T>G" "r.(?)" "p.(Phe445Val)" "" "0000718812" "00001894" "30" "1411" "8" "1411" "8" "c.1411+8T>A" "r.(=)" "p.(=)" "" "0000718813" "00001894" "30" "1412" "-118" "1412" "-118" "c.1412-118dup" "r.(=)" "p.(=)" "" "0000718814" "00001894" "10" "1412" "-8" "1412" "-8" "c.1412-8C>T" "r.(=)" "p.(=)" "" "0000718815" "00001894" "10" "1412" "-3" "1412" "-3" "c.1412-3dup" "r.spl?" "p.?" "" "0000718816" "00001894" "30" "1491" "0" "1491" "0" "c.1491C>T" "r.(?)" "p.(Ile497=)" "" "0000718817" "00001894" "30" "1506" "0" "1506" "0" "c.1506G>A" "r.(?)" "p.(Pro502=)" "" "0000718818" "00001894" "10" "1695" "0" "1695" "0" "c.1695C>T" "r.(?)" "p.(Ala565=)" "" "0000718819" "00001894" "30" "1757" "-819" "1757" "-819" "c.1757-819G>T" "r.(=)" "p.(=)" "" "0000718820" "00001894" "30" "1806" "0" "1806" "0" "c.1806G>A" "r.(?)" "p.(Gly602=)" "" "0000718821" "00001894" "10" "1895" "0" "1895" "0" "c.1895T>C" "r.(?)" "p.(Val632Ala)" "" "0000783779" "00001894" "50" "923" "0" "923" "0" "c.923G>T" "r.(?)" "p.(Gly308Val)" "6" "0000783780" "00001894" "50" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405Cys)" "9" "0000783781" "00001894" "50" "1212" "-1" "1212" "-1" "c.1212-1G>A" "r.spl?" "p.?" "" "0000783782" "00001894" "50" "1709" "0" "1711" "0" "c.1709_1711del" "r.(?)" "p.(Phe570del)" "11" "0000783783" "00001894" "50" "1528" "0" "1530" "0" "c.1528_1530del" "r.(?)" "p.(Ile510del)" "11" "0000783784" "00001894" "50" "923" "0" "923" "0" "c.923G>T" "r.(?)" "p.(Gly308Val)" "6" "0000790063" "00001894" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Leu228Pro)" "" "0000800632" "00001894" "30" "-1409" "0" "-1409" "0" "c.-1409G>A" "r.(?)" "p.(=)" "" "0000800633" "00001894" "30" "-424" "0" "-424" "0" "c.-424A>C" "r.(?)" "p.(=)" "" "0000800634" "00001894" "30" "64" "-294" "64" "-294" "c.64-294T>A" "r.(=)" "p.(=)" "" "0000800635" "00001894" "50" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Asp33Asn)" "" "0000800636" "00001894" "30" "165" "523" "165" "523" "c.165+523dup" "r.(=)" "p.(=)" "" "0000800637" "00001894" "30" "166" "-340" "166" "-340" "c.166-340T>G" "r.(=)" "p.(=)" "" "0000800638" "00001894" "30" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(Gly87=)" "" "0000800639" "00001894" "50" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000800640" "00001894" "30" "888" "0" "888" "0" "c.888G>T" "r.(?)" "p.(Ala296=)" "" "0000800641" "00001894" "50" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Tyr321Cys)" "" "0000800642" "00001894" "30" "965" "-486" "965" "-486" "c.965-486C>G" "r.(=)" "p.(=)" "" "0000800643" "00001894" "50" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000800644" "00001894" "30" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Ser377=)" "" "0000800645" "00001894" "30" "1140" "0" "1140" "0" "c.1140A>G" "r.(?)" "p.(Pro380=)" "" "0000800646" "00001894" "30" "1211" "632" "1211" "632" "c.1211+632G>A" "r.(=)" "p.(=)" "" "0000800647" "00001894" "90" "1444" "0" "1444" "0" "c.1444del" "r.(?)" "p.(Leu482Trpfs*40)" "" "0000800648" "00001894" "50" "1451" "0" "1451" "0" "c.1451A>G" "r.(?)" "p.(Asp484Gly)" "" "0000800649" "00001894" "30" "1473" "0" "1473" "0" "c.1473A>G" "r.(?)" "p.(Pro491=)" "" "0000800650" "00001894" "30" "1596" "0" "1596" "0" "c.1596C>T" "r.(?)" "p.(Phe532=)" "" "0000800651" "00001894" "30" "1656" "0" "1656" "0" "c.1656G>A" "r.(?)" "p.(Leu552=)" "" "0000800652" "00001894" "30" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(Leu572=)" "" "0000800653" "00001894" "30" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(Gln607=)" "" "0000829418" "00001894" "50" "-8388608" "0" "8388607" "0" "c.-16465785_*17976129dup" "r.0?" "p.0?" "" "0000849891" "00001894" "50" "-517" "0" "-517" "0" "c.-517C>T" "r.(?)" "p.(=)" "" "0000849892" "00001894" "50" "-405" "0" "-405" "0" "c.-405C>T" "r.(?)" "p.(=)" "" "0000849893" "00001894" "30" "-401" "0" "-401" "0" "c.-401G>A" "r.(?)" "p.(=)" "" "0000849894" "00001894" "50" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Gly10Arg)" "" "0000849895" "00001894" "30" "29" "0" "29" "0" "c.29G>C" "r.(?)" "p.(Gly10Ala)" "" "0000849896" "00001894" "30" "63" "12" "63" "12" "c.63+12A>G" "r.(=)" "p.(=)" "" "0000849897" "00001894" "50" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Gly22Ser)" "" "0000849898" "00001894" "50" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Arg145Gly)" "" "0000849899" "00001894" "50" "817" "0" "817" "0" "c.817C>A" "r.(?)" "p.(Arg273Ser)" "" "0000849900" "00001894" "30" "1128" "-5" "1128" "-5" "c.1128-5C>T" "r.spl?" "p.?" "" "0000849901" "00001894" "50" "1405" "0" "1405" "0" "c.1405T>C" "r.(?)" "p.(Ser469Pro)" "" "0000849902" "00001894" "50" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Ser469Phe)" "" "0000849903" "00001894" "70" "1411" "1" "1411" "1" "c.1411+1G>A" "r.spl?" "p.?" "" "0000849904" "00001894" "30" "1452" "0" "1452" "0" "c.1452C>T" "r.(?)" "p.(Asp484=)" "" "0000849905" "00001894" "50" "1574" "0" "1574" "0" "c.1574T>G" "r.(?)" "p.(Leu525Arg)" "" "0000849906" "00001894" "30" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Leu552=)" "" "0000849907" "00001894" "30" "1785" "0" "1785" "0" "c.1785C>T" "r.(?)" "p.(Phe595=)" "" "0000849908" "00001894" "50" "1845" "0" "1845" "0" "c.1845G>C" "r.(?)" "p.(Met615Ile)" "" "0000858538" "00001894" "30" "-1139" "0" "-1139" "0" "c.-1139G>T" "r.(?)" "p.(=)" "" "0000858539" "00001894" "50" "262" "0" "262" "0" "c.262A>G" "r.(?)" "p.(Ile88Val)" "" "0000858540" "00001894" "70" "408" "0" "408" "0" "c.408del" "r.(?)" "p.(Gln137Serfs*8)" "" "0000858541" "00001894" "50" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Met173Ile)" "" "0000858542" "00001894" "30" "695" "-7" "695" "-7" "c.695-7T>C" "r.(=)" "p.(=)" "" "0000858543" "00001894" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Gly242Arg)" "" "0000858544" "00001894" "50" "1061" "0" "1061" "0" "c.1061G>A" "r.(?)" "p.(Arg354His)" "" "0000858545" "00001894" "90" "1083" "0" "1083" "0" "c.1083G>A" "r.(?)" "p.(Trp361Ter)" "" "0000858546" "00001894" "10" "1212" "-77" "1212" "-77" "c.1212-77T>C" "r.(=)" "p.(=)" "" "0000858547" "00001894" "50" "1256" "0" "1256" "0" "c.1256T>A" "r.(?)" "p.(Ile419Asn)" "" "0000858548" "00001894" "30" "1257" "0" "1257" "0" "c.1257C>A" "r.(?)" "p.(Ile419=)" "" "0000858549" "00001894" "50" "1346" "0" "1346" "0" "c.1346C>T" "r.(?)" "p.(Ala449Val)" "" "0000858550" "00001894" "30" "1347" "0" "1347" "0" "c.1347C>T" "r.(?)" "p.(Ala449=)" "" "0000858551" "00001894" "70" "1715" "0" "1715" "0" "c.1715T>C" "r.(?)" "p.(Leu572Pro)" "" "0000858552" "00001894" "10" "1757" "-87" "1757" "-86" "c.1757-87_1757-86del" "r.(=)" "p.(=)" "" "0000885180" "00001894" "30" "-1230" "0" "-1230" "0" "c.-1230C>T" "r.(?)" "p.(=)" "" "0000885181" "00001894" "90" "-1207" "0" "-1207" "0" "c.-1207del" "r.(?)" "p.(=)" "" "0000885182" "00001894" "70" "-1111" "0" "-1091" "0" "c.-1111_-1091dup" "r.(?)" "p.(=)" "" "0000885183" "00001894" "30" "-299" "0" "-299" "0" "c.-299G>A" "r.(?)" "p.(=)" "" "0000885184" "00001894" "30" "27" "0" "27" "0" "c.27A>G" "r.(?)" "p.(Arg9=)" "" "0000885185" "00001894" "30" "63" "15" "63" "16" "c.63+15_63+16del" "r.(=)" "p.(=)" "" "0000885186" "00001894" "30" "63" "289" "63" "289" "c.63+289T>C" "r.(=)" "p.(=)" "" "0000885187" "00001894" "50" "115" "0" "115" "0" "c.115A>T" "r.(?)" "p.(Thr39Ser)" "" "0000885188" "00001894" "30" "165" "41" "165" "41" "c.165+41G>A" "r.(=)" "p.(=)" "" "0000885189" "00001894" "30" "166" "-19" "166" "-19" "c.166-19T>G" "r.(=)" "p.(=)" "" "0000885190" "00001894" "90" "320" "0" "320" "0" "c.320C>G" "r.(?)" "p.(Ser107*)" "" "0000885191" "00001894" "50" "632" "0" "632" "0" "c.632G>T" "r.(?)" "p.(Arg211Leu)" "" "0000885192" "00001894" "30" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(Asp237=)" "" "0000885193" "00001894" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Glu238Lys)" "" "0000885194" "00001894" "30" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Leu243=)" "" "0000885195" "00001894" "50" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Arg273His)" "" "0000885196" "00001894" "30" "888" "0" "888" "0" "c.888G>A" "r.(?)" "p.(Ala296=)" "" "0000885197" "00001894" "10" "965" "-550" "965" "-550" "c.965-550G>A" "r.(=)" "p.(=)" "" "0000885198" "00001894" "10" "965" "-509" "965" "-509" "c.965-509G>A" "r.(=)" "p.(=)" "" "0000885199" "00001894" "50" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Ser326Asn)" "" "0000885200" "00001894" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Cys)" "" "0000885201" "00001894" "30" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Arg339=)" "" "0000885202" "00001894" "50" "1024" "0" "1024" "0" "c.1024G>T" "r.(?)" "p.(Ala342Ser)" "" "0000885203" "00001894" "30" "1128" "-5" "1128" "-5" "c.1128-5C>T" "r.spl?" "p.?" "" "0000885204" "00001894" "30" "1212" "-325" "1212" "-325" "c.1212-325G>A" "r.(=)" "p.(=)" "" "0000885205" "00001894" "50" "1281" "0" "1281" "0" "c.1281G>A" "r.(?)" "p.(Met427Ile)" "" "0000885206" "00001894" "50" "1363" "0" "1363" "0" "c.1363A>G" "r.(?)" "p.(Ile455Val)" "" "0000885207" "00001894" "50" "1429" "0" "1429" "0" "c.1429A>G" "r.(?)" "p.(Met477Val)" "" "0000885208" "00001894" "30" "1488" "18" "1488" "18" "c.1488+18A>T" "r.(=)" "p.(=)" "" "0000885209" "00001894" "70" "1489" "-1" "1489" "-1" "c.1489-1G>T" "r.spl?" "p.?" "" "0000885210" "00001894" "50" "1509" "0" "1509" "0" "c.1509G>C" "r.(?)" "p.(Glu503Asp)" "" "0000885211" "00001894" "50" "1549" "0" "1549" "0" "c.1549T>C" "r.(?)" "p.(Trp517Arg)" "" "0000885212" "00001894" "30" "1650" "0" "1650" "0" "c.1650G>A" "r.(?)" "p.(Ala550=)" "" "0000885213" "00001894" "50" "1753" "0" "1753" "0" "c.1753A>T" "r.(?)" "p.(Thr585Ser)" "" "0000885214" "00001894" "50" "1812" "0" "1812" "0" "c.1812G>A" "r.(?)" "p.(Met604Ile)" "" "0000885215" "00001894" "30" "1885" "-7" "1885" "-7" "c.1885-7T>C" "r.(=)" "p.(=)" "" "0000911706" "00001894" "50" "-1109" "0" "-1109" "0" "c.-1109T>C" "r.(?)" "p.(=)" "" "0000911707" "00001894" "50" "-435" "0" "-435" "0" "c.-435A>C" "r.(?)" "p.(=)" "" "0000911708" "00001894" "70" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000911709" "00001894" "50" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Trp)" "" "0000911710" "00001894" "30" "642" "0" "642" "0" "c.642G>A" "r.(?)" "p.(Ser214=)" "" "0000911711" "00001894" "50" "694" "5" "694" "5" "c.694+5G>C" "r.spl?" "p.?" "" "0000911712" "00001894" "30" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Thr290=)" "" "0000911713" "00001894" "30" "1127" "14" "1127" "14" "c.1127+14C>T" "r.(=)" "p.(=)" "" "0000911714" "00001894" "30" "1638" "0" "1638" "0" "c.1638C>T" "r.(?)" "p.(Ala546=)" "" "0000911715" "00001894" "50" "1936" "0" "1936" "0" "c.1936A>G" "r.(?)" "p.(Ile646Val)" "" "0000923702" "00001894" "50" "1472" "0" "1472" "0" "c.1472C>T" "r.(?)" "p.(Pro491Leu)" "" "0000923703" "00001894" "50" "1532" "0" "1532" "0" "c.1532A>G" "r.(?)" "p.(Tyr511Cys)" "" "0000923704" "00001894" "50" "1669" "0" "1669" "0" "c.1669C>G" "r.(?)" "p.(His557Asp)" "" "0000923705" "00001894" "30" "1756" "9" "1756" "9" "c.1756+9del" "r.(=)" "p.(=)" "" "0000923706" "00001894" "30" "1924" "0" "1924" "0" "c.1924G>A" "r.(?)" "p.(Ala642Thr)" "" "0000923707" "00001894" "50" "1927" "0" "1927" "0" "c.1927A>C" "r.(?)" "p.(Ile643Leu)" "" "0000928597" "00001894" "50" "-1124" "0" "-1124" "0" "c.-1124T>C" "r.(?)" "p.(=)" "" "0000928598" "00001894" "30" "63" "9" "63" "9" "c.63+9G>C" "r.(=)" "p.(=)" "" "0000928599" "00001894" "30" "695" "-11" "695" "-11" "c.695-11G>T" "r.(=)" "p.(=)" "" "0000928600" "00001894" "50" "1073" "0" "1073" "0" "c.1073A>T" "r.(?)" "p.(Asp358Val)" "" "0000928601" "00001894" "30" "1554" "0" "1554" "0" "c.1554G>T" "r.(?)" "p.(=)" "" "0000928602" "00001894" "30" "1782" "0" "1782" "0" "c.1782C>T" "r.(?)" "p.(Ser594=)" "" "0000947866" "00001894" "30" "63" "302" "63" "328" "c.63+302_63+328del" "r.(=)" "p.(=)" "" "0000947867" "00001894" "10" "64" "-1007" "64" "-1007" "c.64-1007T>C" "r.(=)" "p.(=)" "" "0000947868" "00001894" "30" "561" "9" "561" "9" "c.561+9C>A" "r.(=)" "p.(=)" "" "0000947869" "00001894" "50" "677" "0" "677" "0" "c.677A>G" "r.(?)" "p.(Gln226Arg)" "" "0000947870" "00001894" "30" "735" "0" "735" "0" "c.735C>T" "r.(?)" "p.(=)" "" "0000947871" "00001894" "70" "927" "0" "927" "0" "c.927C>A" "r.(?)" "p.(Tyr309*)" "" "0000947872" "00001894" "50" "1265" "0" "1265" "0" "c.1265C>T" "r.(?)" "p.(Ala422Val)" "" "0000947873" "00001894" "30" "1296" "0" "1296" "0" "c.1296C>T" "r.(?)" "p.(=)" "" "0000947874" "00001894" "50" "1586" "0" "1586" "0" "c.1586T>C" "r.(?)" "p.(Leu529Pro)" "" "0000947875" "00001894" "70" "1640" "0" "1640" "0" "c.1640T>C" "r.(?)" "p.(Leu547Pro)" "" "0000947876" "00001894" "50" "1705" "0" "1705" "0" "c.1705T>C" "r.(?)" "p.(Ser569Pro)" "" "0000947877" "00001894" "30" "1756" "15" "1756" "15" "c.1756+15C>T" "r.(=)" "p.(=)" "" "0000947878" "00001894" "30" "1757" "-16" "1757" "-16" "c.1757-16G>A" "r.(=)" "p.(=)" "" "0000947879" "00001894" "50" "1862" "0" "1862" "0" "c.1862C>T" "r.(?)" "p.(Thr621Ile)" "" "0000962102" "00001894" "50" "-1110" "0" "-1110" "0" "c.-1110C>A" "r.(?)" "p.(=)" "" "0000962103" "00001894" "50" "725" "0" "725" "0" "c.725G>C" "r.(?)" "p.(Gly242Ala)" "" "0000962104" "00001894" "50" "860" "0" "860" "0" "c.860C>T" "r.(?)" "p.(Thr287Met)" "" "0000962105" "00001894" "70" "976" "0" "976" "0" "c.976dup" "r.(?)" "p.(Ser326Lysfs*3)" "" "0000962106" "00001894" "50" "977" "0" "977" "0" "c.977G>T" "r.(?)" "p.(Ser326Ile)" "" "0000962107" "00001894" "50" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000962108" "00001894" "30" "1386" "0" "1386" "0" "c.1386C>T" "r.(?)" "p.(Asn462=)" "" "0000962109" "00001894" "30" "1713" "0" "1713" "0" "c.1713C>T" "r.(?)" "p.(=)" "" "0000975278" "00001894" "50" "-1178" "0" "-1178" "0" "c.-1178A>G" "r.(?)" "p.(=)" "" "0000975279" "00001894" "90" "10" "0" "11" "0" "c.10_11insT" "r.(?)" "p.(Lys4Ilefs*23)" "" "0000975280" "00001894" "30" "63" "312" "63" "328" "c.63+312_63+328del" "r.(=)" "p.(=)" "" "0000975281" "00001894" "30" "965" "-289" "965" "-289" "c.965-289G>T" "r.(=)" "p.(=)" "" "0000975282" "00001894" "30" "1211" "189" "1211" "189" "c.1211+189G>A" "r.(=)" "p.(=)" "" "0000975283" "00001894" "50" "1398" "0" "1398" "0" "c.1398T>G" "r.(?)" "p.(Asp466Glu)" "" "0000975284" "00001894" "30" "1489" "-4" "1489" "-4" "c.1489-4G>A" "r.spl?" "p.?" "" "0000975285" "00001894" "50" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(His531Tyr)" "" "0000992865" "00001894" "50" "-1190" "0" "-1190" "0" "c.-1190C>T" "r.(?)" "p.(=)" "" "0000992866" "00001894" "50" "-1137" "0" "-1137" "0" "c.-1137C>A" "r.(?)" "p.(=)" "" "0000992867" "00001894" "30" "106" "0" "106" "0" "c.106C>T" "r.(?)" "p.(=)" "" "0000992868" "00001894" "30" "405" "0" "405" "0" "c.405T>C" "r.(?)" "p.(=)" "" "0000992869" "00001894" "50" "1279" "0" "1279" "0" "c.1279A>G" "r.(?)" "p.(Met427Val)" "" "0000992871" "00001894" "50" "1966" "0" "1966" "0" "c.1966G>T" "r.(?)" "p.(Val656Phe)" "" "0001013732" "00001894" "50" "584" "0" "584" "0" "c.584T>A" "r.(?)" "p.(Leu195Gln)" "" "0001013733" "00001894" "30" "1128" "-11" "1128" "-11" "c.1128-11C>T" "r.(=)" "p.(=)" "" "0001013734" "00001894" "30" "1212" "-13" "1212" "-13" "c.1212-13T>C" "r.(=)" "p.(=)" "" "0001013735" "00001894" "50" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Pro460Ser)" "" "0001013736" "00001894" "30" "1489" "-14" "1489" "-14" "c.1489-14G>T" "r.(=)" "p.(=)" "" "0001013737" "00001894" "30" "1756" "17" "1756" "17" "c.1756+17G>C" "r.(=)" "p.(=)" "" "0001024584" "00001894" "30" "-1153" "0" "-1153" "0" "c.-1153C>T" "r.(?)" "p.(=)" "" "0001024585" "00001894" "30" "-1080" "0" "-1080" "0" "c.-1080G>A" "r.(?)" "p.(=)" "" "0001024586" "00001894" "50" "-397" "0" "-397" "0" "c.-397G>T" "r.(?)" "p.(=)" "" "0001024587" "00001894" "30" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(=)" "" "0001024588" "00001894" "30" "322" "5" "322" "5" "c.322+5C>G" "r.spl?" "p.?" "" "0001024589" "00001894" "50" "412" "0" "412" "0" "c.412C>A" "r.(?)" "p.(Pro138Thr)" "" "0001024590" "00001894" "50" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Glu340Lys)" "" "0001024591" "00001894" "50" "1267" "0" "1267" "0" "c.1267G>A" "r.(?)" "p.(Glu423Lys)" "" "0001024592" "00001894" "50" "1444" "0" "1444" "0" "c.1444C>G" "r.(?)" "p.(Leu482Val)" "" "0001024593" "00001894" "50" "1489" "-20" "1489" "-20" "c.1489-20G>T" "r.(=)" "p.(=)" "" "0001024594" "00001894" "70" "1608" "0" "1608" "0" "c.1608G>A" "r.(?)" "p.(Trp536*)" "" "0001033336" "00001894" "50" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164Gln)" "" "0001033337" "00001894" "50" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Asp237Asn)" "" "0001033338" "00001894" "50" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Ser241Phe)" "" "0001033339" "00001894" "50" "964" "5" "964" "5" "c.964+5G>A" "r.spl?" "p.?" "" "0001033340" "00001894" "50" "1225" "0" "1225" "0" "c.1225A>G" "r.(?)" "p.(Asn409Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000293917" "0000650606" "0000373632" "0000783779" "0000373632" "0000783781" "0000373633" "0000783780" "0000373634" "0000783782" "0000373634" "0000783784" "0000373635" "0000783783" "0000377654" "0000790063"