PMID: 27984508

Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics and genomics
DH Hovelson, Z Xue, M Zawistowski, MG Ehm, EC Harris, SL Stocker, AS Gross, IJ Jang, I Ieiri, JE Lee, LR Cardon, SL Chissoe, G Abecasis, MR Nelson
2017-03

1419 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-75042581-G-A CYP1A2 c.502G>A p.Glu168Lys Missense 2/7 -
2-234621825-T-C UGT1A10 c.856-53855T>C - IntronicSNV - 1/4
5-131663062-T-C SLC22A4 c.917T>C p.Ile306Thr Missense 5/10 -
15-75045612-G-C CYP1A2 c.1253+1G>C - IntronicSNV - 6/6
15-75045612-G-A CYP1A2 c.1253+1G>A - IntronicSNV - 6/6
2-234601707-A-T UGT1A10 c.855+55684A>T - IntronicSNV - 1/4
7-99358459-G-A CYP3A4 c.1396C>T p.Pro466Ser Missense 12/13 -
4-69433950-C-A UGT2B17 c.253G>T p.Asp85Tyr Missense 1/6 -
2-234526680-T-A UGT1A8 c.327T>A p.Phe109Leu Missense 1/5 -
8-18257916-C-G NAT2 c.403C>G p.Leu135Val Missense 2/2 -
22-42523534-AC-ACAC CYP2D6 c.1088_1089dup p.Gln364Cysfs*12 Frameshift 7/9 -
4-70160343-G-A UGT2B28 c.1406G>A p.Cys469Tyr Missense 6/6 -
7-99262860-T-C CYP3A5 c.599A>G p.Gln200Arg Missense 7/13 -
8-143957163-C-G CYP11B1 c.1086G>C p.Leu362Leu Synonymous 6/9 -
15-75012940-G-A CYP1A1 c.1429C>T p.Arg477Trp Missense 7/7 -
15-75012940-G-C CYP1A1 c.1429C>G p.Arg477Gly Missense 7/7 -
19-41349759-T-C CYP2A6 c.1427A>G p.Lys476Arg Missense 9/9 -
19-48377926-G-A SULT2A1 c.733C>T p.Leu245Phe Missense 5/6 -
2-234591340-T-G UGT1A10 c.855+45317T>G - IntronicSNV - 1/4
10-106022789-C-A GSTO1 c.419C>A p.Ala140Asp Missense 4/6 -
2-234622282-C-G UGT1A10 c.856-53398C>G - IntronicSNV - 1/4
2-234622282-C-T UGT1A10 c.856-53398C>T - IntronicSNV - 1/4
22-42526721-G-A CYP2D6 c.73C>T p.Arg25Trp Missense 1/9 -
3-121643804-C-G SLC15A2 c.1048C>G p.Leu350Val Missense 13/22 -
3-121643804-C-T SLC15A2 c.1048C>T p.Leu350Phe Missense 13/22 -
10-96541615-C-T CYP2C19 c.680C>T p.Pro227Leu Missense 5/9 -
8-18080333-T-C NAT1 c.777T>C p.Ser259Ser Synonymous 3/3 -
8-18080333-T-G NAT1 c.777T>G p.Ser259Arg Missense 3/3 -
16-16235077-C-T ABCC1 c.4535C>T p.Ser1512Leu Missense 31/31 -
13-95839008-T-C ABCC4 c.1492A>G p.Lys498Glu Missense 11/31 -
6-160671651-G-A SLC22A2 c.602C>T p.Thr201Met Missense 3/11 -
2-234627937-T-C UGT1A4 c.471T>C p.Cys157Cys Synonymous 1/5 -
6-160679630-G-A SLC22A2 c.160C>T p.Pro54Ser Missense 1/11 -
10-101578641-C-G ABCC2 c.2366C>G p.Ser789Cys Missense 18/32 -
10-101578641-C-T ABCC2 c.2366C>T p.Ser789Phe Missense 18/32 -
10-101595954-G-A ABCC2 c.3521G>A p.Arg1174His Missense 25/32 -
1-171080080-G-A FMO3 c.769G>A p.Val257Met Missense 6/9 -
6-160679400-C-T SLC22A2 c.390G>A p.Thr130Thr Synonymous 1/11 -
6-160679400-C-A SLC22A2 c.390G>T p.Thr130Thr Synonymous 1/11 -
10-101559094-A-G ABCC2 c.998A>G p.Asp333Gly Missense 8/32 -
14-24459486-C-A DHRS4L2 c.140C>A p.Thr47Lys Missense 4/9 -
14-24459486-C-T DHRS4L2 c.140C>T p.Thr47Met Missense 4/9 -
4-100229017-G-A ADH1B c.1108C>T p.Arg370Cys Missense 9/9 -
4-89036166-C-G ABCG2 c.886G>C p.Asp296His Missense 8/16 -
8-18080337-G-A NAT1 c.781G>A p.Glu261Lys Missense 3/3 -
19-41518244-C-T CYP2B6 c.1006C>T p.Arg336Cys Missense 7/9 -
6-160679630-G-T SLC22A2 c.160C>A p.Pro54Thr Missense 1/11 -
2-234676965-G-T UGT1A1 c.1184G>T p.Gly395Val Missense 4/5 -
11-17491730-G-A ABCC8 c.330C>T p.Ala110Ala Synonymous 3/39 -
6-18143949-G-C TPMT c.244C>G p.Arg82Gly Missense 4/9 -
4-70160343-G-C UGT2B28 c.1406G>C p.Cys469Ser Missense 6/6 -
8-18258122-G-T NAT2 c.609G>T p.Glu203Asp Missense 2/2 -
2-234676965-G-A UGT1A1 c.1184G>A p.Gly395Asp Missense 4/5 -
7-75615483-G-T POR c.1822G>T p.Val608Phe Missense 15/16 -
7-75615483-G-A POR c.1822G>A p.Val608Ile Missense 15/16 -
10-101603631-A-G ABCC2 c.3817A>G p.Thr1273Ala Missense 27/32 -
10-96698440-A-T CYP2C9 c.1A>T p.Met1Leu Missense 1/9 -
10-96698440-A-G CYP2C9 c.1A>G p.Met1Val Missense 1/9 -
17-19463591-G-A SLC47A1 c.1012G>A p.Val338Ile Missense 11/17 -
8-18257924-A-T NAT2 c.411A>T p.Leu137Phe Missense 2/2 -
4-70361460-C-G UGT2B4 c.120G>C p.Lys40Asn Missense 1/6 -
4-70709893-G-T SULT1E1 c.758C>A p.Pro253His Missense 7/8 -
4-70723299-C-A SULT1E1 c.64G>T p.Asp22Tyr Missense 2/8 -
4-70723299-C-T SULT1E1 c.64G>A p.Asp22Asn Missense 2/8 -
22-42523475-C-T CYP2D6 c.1147G>A p.Glu383Lys Missense 7/9 -
16-28607232-A-G SULT1A2 c.20T>C p.Ile7Thr Missense 2/8 -
12-21457448-G-T SLCO1A2 c.502C>A p.Arg168Ser Missense 5/14 -
12-21392079-C-T SLCO1B1 c.2032C>T p.His678Tyr Missense 15/15 -
16-28607232-A-T SULT1A2 c.20T>A p.Ile7Asn Missense 2/8 -
16-28607232-A-C SULT1A2 c.20T>G p.Ile7Ser Missense 2/8 -
10-96609775-A-C CYP2C19 c.1251A>C p.Gly417Gly Synonymous 8/9 -
2-234676413-T-C UGT1A1 c.997-82T>C - IntronicSNV - 2/4
12-21325716-T-C SLCO1B1 c.217T>C p.Phe73Leu Missense 3/15 -
5-131671634-G-A SLC22A4 c.1385G>A p.Gly462Glu Missense 8/10 -
6-160677671-T-C SLC22A2 c.493A>G p.Met165Val Missense 2/11 -
7-99361626-A-G CYP3A4 c.875T>C p.Leu292Pro Missense 10/13 -
3-119534659-C-T NR1I2 c.1141C>T p.Arg381Trp Missense 8/9 -
6-18149105-A-G TPMT c.140+114T>C - IntronicSNV - 2/8
6-18149105-A-T TPMT c.140+114T>A - IntronicSNV - 2/8
13-99358411-C-G SLC15A1 c.1246G>C p.Val416Leu Missense 16/23 -
2-234637853-G-A UGT1A4 c.867+9520G>A - IntronicSNV - 1/4
13-99358411-C-T SLC15A1 c.1246G>A p.Val416Met Missense 16/23 -
14-70245157-A-G SLC10A1 c.836T>C p.Ile279Thr Missense 4/5 -
2-234627737-C-T UGT1A4 c.271C>T p.Arg91Cys Missense 1/5 -
10-101578577-C-G ABCC2 c.2302C>G p.Arg768Gly Missense 18/32 -
8-18258113-A-G NAT2 c.600A>G p.Glu200Glu Synonymous 2/2 -
19-41350587-T-C CYP2A6 c.1252A>G p.Asn418Asp Missense 8/9 -
4-69973906-G-C UGT2B7 c.1176G>C p.Gly392Gly Synonymous 5/6 -
1-98165030-T-C DPYD c.557A>G p.Tyr186Cys Missense 6/23 -
2-234601669-T-G UGT1A10 c.855+55646T>G - IntronicSNV - 1/4
2-169842697-A-T ABCB11 c.1006T>A p.Cys336Ser Missense 10/28 -
16-16173232-G-T ABCC1 c.2012G>T p.Gly671Val Missense 16/31 -
10-135345675-G-A CYP2E1 c.535G>A p.Val179Ile Missense 4/9 -
22-42525182-A-T CYP2D6 c.358T>A p.Phe120Ile Missense 3/9 -
4-69536080-A-G UGT2B15 c.257T>C p.Leu86Ser Missense 1/6 -
2-234526705-A-G UGT1A8 c.352A>G p.Asn118Asp Missense 1/5 -
19-41350996-C-T CYP2A6 c.1161+203G>A - IntronicSNV - 7/8
2-234669074-C-T UGT1A1 c.141C>T p.Ile47Ile Synonymous 1/5 -
5-131728298-G-T SLC22A5 c.1441G>T p.Val481Phe Missense 8/10 -
5-131728298-G-A SLC22A5 c.1441G>A p.Val481Ile Missense 8/10 -
2-234526807-G-A UGT1A8 c.454G>A p.Ala152Thr Missense 1/5 -
8-18258358-A-G NAT2 c.845A>G p.Lys282Arg Missense 2/2 -
2-234676979-A-G UGT1A1 c.1198A>G p.Asn400Asp Missense 4/5 -
2-234676979-A-C UGT1A1 c.1198A>C p.Asn400His Missense 4/5 -
2-234580967-A-T UGT1A10 c.855+34944A>T - IntronicSNV - 1/4
2-234580967-A-G UGT1A10 c.855+34944A>G - IntronicSNV - 1/4
10-96612671-A-C CYP2C19 c.1473A>C - Missense 9/9 -
6-18134121-C-T TPMT c.495-1G>A - IntronicSNV - 6/8
2-234627608-T-G UGT1A4 c.142T>G p.Leu48Val Missense 1/5 -
8-18257716-G-A NAT2 c.203G>A p.Cys68Tyr Missense 2/2 -
6-18149358-T-C TPMT c.1A>G p.Met1Val Missense 2/9 -
1-97770920-C-T DPYD c.2194G>A p.Val732Ile Missense 18/23 -
2-234622382-G-C UGT1A10 c.856-53298G>C - IntronicSNV - 1/4
19-41355738-C-G CYP2A6 c.328G>C p.Val110Leu Missense 2/9 -
19-41355738-C-T CYP2A6 c.328G>A p.Val110Ile Missense 2/9 -
2-234602202-A-C UGT1A10 c.855+56179A>C - IntronicSNV - 1/4
2-234675696-T-C UGT1A1 c.881T>C p.Ile294Thr Missense 2/5 -
2-234527044-G-A UGT1A8 c.691G>A p.Ala231Thr Missense 1/5 -
6-18134115-G-C TPMT c.500C>G p.Ala167Gly Missense 7/9 -
10-96602752-G-A CYP2C19 c.1120G>A p.Val374Ile Missense 7/9 -
10-96522463-A-G CYP2C19 c.1A>G p.Met1Val Missense 1/9 -
2-234621764-A-G UGT1A10 c.856-53916A>G - IntronicSNV - 1/4
4-69964271-A-T UGT2B7 c.735A>T p.Thr245Thr Synonymous 2/6 -
6-18139214-G-A TPMT c.474C>T p.Ile158Ile Synonymous 6/9 -
7-75615113-G-C POR c.1615G>C p.Gly539Arg Missense 13/16 -
12-21391976-A-C SLCO1B1 c.1929A>C p.Leu643Phe Missense 15/15 -
16-28617485-C-G SULT1A1 c.667G>C p.Val223Leu Missense 7/8 -
16-28617485-C-T SULT1A1 c.667G>A p.Val223Met Missense 7/8 -
6-160543008-C-T SLC22A1 c.41C>T p.Ser14Phe Missense 1/11 -
6-160543008-C-G SLC22A1 c.41C>G p.Ser14Cys Missense 1/11 -
13-95863016-A-T ABCC4 c.551T>A p.Met184Lys Missense 5/31 -
2-234581336-G-C UGT1A10 c.855+35313G>C - IntronicSNV - 1/4
10-96741054-T-A CYP2C9 c.1076T>A p.Ile359Asn Missense 7/9 -
4-89039360-A-G ABCG2 c.742T>C p.Ser248Pro Missense 7/16 -
10-96741054-T-C CYP2C9 c.1076T>C p.Ile359Thr Missense 7/9 -
13-95858880-G-A ABCC4 c.1067C>T p.Thr356Met Missense 8/31 -
7-99367404-C-T CYP3A4 c.508G>A p.Val170Ile Missense 6/13 -
2-234676924-C-T UGT1A1 c.1143C>T p.Ser381Ser Synonymous 4/5 -
2-234676924-C-G UGT1A1 c.1143C>G p.Ser381Arg Missense 4/5 -
10-96612495-C-T CYP2C19 c.1297C>T p.Arg433Trp Missense 9/9 -
8-18257624-T-C NAT2 c.111T>C p.Phe37Phe Synonymous 2/2 -
7-99365994-G-C CYP3A4 c.653C>G p.Pro218Arg Missense 7/13 -
8-18257704-G-A NAT2 c.191G>A p.Arg64Gln Missense 2/2 -
15-75012979-G-T CYP1A1 c.1390C>A p.Arg464Ser Missense 7/7 -
4-69696504-T-C UGT2B10 c.1494T>C p.Ala498Ala Synonymous 6/6 -
4-69696504-T-G UGT2B10 c.1494T>G p.Ala498Ala Synonymous 6/6 -
4-70346408-A-G UGT2B4 c.1531T>C p.Cys511Arg Missense 6/6 -
15-75047245-G-A CYP1A2 c.1367G>A p.Arg456His Missense 7/7 -
19-41509950-G-A CYP2B6 c.216G>A p.Pro72Pro Synonymous 2/9 -
19-41509950-G-C CYP2B6 c.216G>C p.Pro72Pro Synonymous 2/9 -
11-74880413-A-T SLCO2B1 c.644A>T p.Asp215Val Missense 5/14 -
2-234669759-G-C UGT1A1 c.826G>C p.Gly276Arg Missense 1/5 -
11-67351297-G-A GSTP1 c.1-18G>A - 5-UTRSNV 1/7 -
8-18258279-A-G NAT2 c.766A>G p.Lys256Glu Missense 2/2 -
10-96731876-C-A CYP2C9 c.835C>A p.Pro279Thr Missense 6/9 -
19-41515993-C-G CYP2B6 c.917C>G p.Thr306Ser Missense 6/9 -
19-41515993-C-T CYP2B6 c.917C>T p.Thr306Ile Missense 6/9 -
10-96541756-T-C CYP2C19 c.819+2T>C - IntronicSNV - 5/8
3-119526149-G-A NR1I2 c.52G>A p.Glu18Lys Missense 2/9 -
11-62761083-C-T SLC22A8 c.1342G>A p.Val448Ile Missense 10/11 -
2-234681416-T-C UGT1A1 c.*211T>C - 3-UTRSNV 5/5 -
10-135345675-G-T CYP2E1 c.535G>T p.Val179Phe Missense 4/9 -
2-234621782-C-A UGT1A10 c.856-53898C>A - IntronicSNV - 1/4
8-30553990-G-A GSR c.702C>T p.Ser234Ser Synonymous 7/13 -
12-21329813-C-A SLCO1B1 c.463C>A p.Pro155Thr Missense 5/15 -
15-75045542-C-T CYP1A2 c.1184C>T p.Thr395Met Missense 6/7 -
8-18258358-A-C NAT2 c.845A>C p.Lys282Thr Missense 2/2 -
4-70361460-C-T UGT2B4 c.120G>A p.Lys40Lys Synonymous 1/6 -
2-234621782-C-T UGT1A10 c.856-53898C>T - IntronicSNV - 1/4
22-42526712-G-A CYP2D6 c.82C>T p.Arg28Cys Missense 1/9 -
22-42526712-G-T CYP2D6 c.82C>A p.Arg28Ser Missense 1/9 -
15-75044578-A-T CYP1A2 c.1156A>T p.Ile386Phe Missense 5/7 -
11-62763557-G-A SLC22A8 c.829C>T p.Arg277Trp Missense 6/11 -
19-41356246-C-A CYP2A6 c.86G>T p.Ser29Ile Missense 1/9 -
15-75047426-C-T CYP1A2 c.1548C>T p.Asn516Asn Synonymous 7/7 -
10-135351137-G-C CYP2E1 c.1156-118G>C - IntronicSNV - 7/8
4-70351050-A-G UGT2B4 c.1186T>C p.Phe396Leu Missense 5/6 -
10-101542578-C-T ABCC2 c.1-24C>T - 5-UTRSNV 1/32 -
2-234627496-G-A UGT1A4 c.30G>A p.Pro10Pro Synonymous 1/5 -
19-41350664-A-T CYP2A6 c.1175T>A p.Phe392Tyr Missense 8/9 -
6-18148247-T-A TPMT c.141-101A>T - IntronicSNV - 2/8
2-234621898-C-G UGT1A10 c.856-53782C>G - IntronicSNV - 1/4
2-234580589-C-G UGT1A10 c.855+34566C>G - IntronicSNV - 1/4
2-234545861-C-T UGT1A10 c.693C>T p.Ala231Ala Synonymous 1/5 -
2-234621898-C-T UGT1A10 c.856-53782C>T - IntronicSNV - 1/4
2-234669558-C-T UGT1A1 c.625C>T p.Arg209Trp Missense 1/5 -
2-169833100-C-G ABCB11 c.1295G>C p.Arg432Thr Missense 12/28 -
2-234669558-C-A UGT1A1 c.625C>A p.Arg209Arg Synonymous 1/5 -
15-75043592-C-T CYP1A2 c.894C>T p.Ser298Ser Synonymous 3/7 -
10-101590526-G-A ABCC2 c.2801G>A p.Arg934Gln Missense 21/32 -
15-75043592-C-A CYP1A2 c.894C>A p.Ser298Arg Missense 3/7 -
2-234622412-G-C UGT1A10 c.856-53268G>C - IntronicSNV - 1/4
6-160645832-C-T SLC22A2 c.1506G>A p.Val502Val Synonymous 10/11 -
13-95863008-C-A ABCC4 c.559G>T p.Gly187Trp Missense 5/31 -
6-160663326-C-T SLC22A2 c.1388G>A p.Arg463Lys Missense 8/11 -
1-171083149-T-C FMO3 c.830T>C p.Val277Ala Missense 7/9 -
10-101605538-A-G ABCC2 c.4145A>G p.Gln1382Arg Missense 29/32 -
4-69973921-C-T UGT2B7 c.1191C>T p.Ala397Ala Synonymous 5/6 -
6-160557643-C-T SLC22A1 c.1022C>T p.Pro341Leu Missense 6/11 -
22-42524944-G-GAAAGGGGCGAAAGGGGCG CYP2D6 c.522_523insTTTCGCCCCTTTCGCCCC p.Pro174_asn175insPheargpropheargpro InFrameInsertion 4/9 -
15-75044552-G-C CYP1A2 c.1130G>C p.Arg377Pro Missense 5/7 -
16-16208716-G-A ABCC1 c.3173G>A p.Arg1058Gln Missense 23/31 -
19-41515255-C-A CYP2B6 c.777C>A p.Ser259Arg Missense 5/9 -
7-75583457-G-C POR c.147G>C p.Lys49Asn Missense 2/16 -
7-75583457-G-A POR c.147G>A p.Lys49Lys Synonymous 2/16 -
2-234627668-C-T UGT1A4 c.202C>T p.His68Tyr Missense 1/5 -
6-18132367-A-G TPMT c.622T>C p.Phe208Leu Missense 8/9 -
4-69973921-C-G UGT2B7 c.1191C>G p.Ala397Ala Synonymous 5/6 -
2-234622294-C-T UGT1A10 c.856-53386C>T - IntronicSNV - 1/4
8-18257994-C-T NAT2 c.481C>T p.Leu161Leu Synonymous 2/2 -
1-171072947-G-A FMO3 c.154G>A p.Ala52Thr Missense 3/9 -
2-234545765-T-C UGT1A10 c.597T>C p.Asp199Asp Synonymous 1/5 -
2-234591277-T-A UGT1A10 c.855+45254T>A - IntronicSNV - 1/4
6-160557643-C-G SLC22A1 c.1022C>G p.Pro341Arg Missense 6/11 -
15-75042327-C-T CYP1A2 c.248C>T p.Thr83Met Missense 2/7 -
19-41518644-C-A CYP2B6 c.1218C>A p.Asp406Glu Missense 8/9 -
10-96741058-C-A CYP2C9 c.1080C>A p.Asp360Glu Missense 7/9 -
2-234627508-A-T UGT1A4 c.42A>T p.Thr14Thr Synonymous 1/5 -
19-41518644-C-T CYP2B6 c.1218C>T p.Asp406Asp Synonymous 8/9 -
19-41351267-C-T CYP2A6 c.1093G>A p.Val365Met Missense 7/9 -
2-234545294-G-A UGT1A10 c.126G>A p.Gln42Gln Synonymous 1/5 -
10-96609752-C-G CYP2C19 c.1228C>G p.Arg410Gly Missense 8/9 -
22-42525176-C-A CYP2D6 c.364G>T p.Ala122Ser Missense 3/9 -
12-21015760-G-A SLCO1B3 c.699G>A p.Met233Ile Missense 8/16 -
12-21353529-T-A SLCO1B1 c.1058T>A p.Ile353Asn Missense 9/15 -
2-234590926-G-A UGT1A10 c.855+44903G>A - IntronicSNV - 1/4
22-42526669-C-T CYP2D6 c.125G>A p.Gly42Glu Missense 1/9 -
10-101577123-A-G ABCC2 c.2153A>G p.Asn718Ser Missense 17/32 -
6-160543090-C-G SLC22A1 c.123C>G p.Phe41Leu Missense 1/11 -
17-19480643-G-T SLC47A1 c.1490G>T p.Cys497Phe Missense 17/17 -
10-96609752-C-T CYP2C19 c.1228C>T p.Arg410Cys Missense 8/9 -
15-45556120-T-G SLC28A2 c.488T>G p.Leu163Trp Missense 6/18 -
22-42522916-C-T CYP2D6 c.1252G>A p.Glu418Lys Missense 8/9 -
13-95715113-C-T ABCC4 c.3211G>A p.Val1071Ile Missense 26/31 -
2-234676568-A-G UGT1A1 c.1070A>G p.Gln357Arg Missense 3/5 -
13-95813572-C-T ABCC4 c.2326G>A p.Val776Ile Missense 19/31 -
2-234545509-G-A UGT1A10 c.341G>A p.Ser114Asn Missense 1/5 -
15-45561551-C-T SLC28A2 c.1384C>T p.Leu462Phe Missense 14/18 -
2-234621953-C-T UGT1A10 c.856-53727C>T - IntronicSNV - 1/4
17-19480643-G-A SLC47A1 c.1490G>A p.Cys497Tyr Missense 17/17 -
7-99270276-A-C CYP3A5 c.245T>G p.Leu82Arg Missense 4/13 -
8-18258012-G-A NAT2 c.499G>A p.Glu167Lys Missense 2/2 -
1-98157332-G-A DPYD c.703C>T p.Arg235Trp Missense 7/23 -
8-18258012-G-C NAT2 c.499G>C p.Glu167Gln Missense 2/2 -
2-234622310-C-T UGT1A10 c.856-53370C>T - IntronicSNV - 1/4
2-234545517-C-T UGT1A10 c.349C>T p.Leu117Phe Missense 1/5 -
10-96698494-C-A CYP2C9 c.55C>A p.Leu19Ile Missense 1/9 -
6-160662609-G-A SLC22A2 c.1398C>T p.Gly466Gly Synonymous 9/11 -
2-234622067-A-T UGT1A10 c.856-53613A>T - IntronicSNV - 1/4
3-121641693-G-A SLC15A2 c.852G>A p.Ala284Ala Synonymous 9/22 -
10-96612542-C-A CYP2C19 c.1344C>A p.Phe448Leu Missense 9/9 -
8-18257703-C-A NAT2 c.190C>A p.Arg64Arg Synonymous 2/2 -
7-87229440-T-C ABCB1 c.61A>G p.Asn21Asp Missense 3/29 -
4-89039297-G-A ABCG2 c.805C>T p.Pro269Ser Missense 7/16 -
7-87229440-T-G ABCB1 c.61A>C p.Asn21His Missense 3/29 -
7-87229440-T-A ABCB1 c.61A>T p.Asn21Tyr Missense 3/29 -
4-69696582-G-C UGT2B10 c.1572G>C p.Lys524Asn Missense 6/6 -
22-44248601-C-T SULT4A1 c.169+9493G>A - IntronicSNV - 1/6
7-75610876-C-T POR c.683C>T p.Pro228Leu Missense 7/16 -
2-234590850-G-A UGT1A10 c.855+44827G>A - IntronicSNV - 1/4
1-171076888-G-T FMO3 c.394G>T p.Asp132Tyr Missense 4/9 -
15-75047169-C-T CYP1A2 c.1291C>T p.Arg431Trp Missense 7/7 -
2-234669155-C-A UGT1A1 c.222C>A p.Tyr74* Nonsense 1/5 -
2-234545898-C-A UGT1A10 c.730C>A p.Leu244Ile Missense 1/5 -
2-234526785-G-A UGT1A8 c.432G>A p.Ala144Ala Synonymous 1/5 -
2-234669631-T-G UGT1A1 c.698T>G p.Leu233Arg Missense 1/5 -
1-171073038-T-C FMO3 c.245T>C p.Met82Thr Missense 3/9 -
7-99367428-G-A CYP3A4 c.484C>T p.Arg162Trp Missense 6/13 -
4-70346565-A-T UGT2B4 c.1374T>A p.Asp458Glu Missense 6/6 -
22-44251189-G-A SULT4A1 c.169+6905C>T - IntronicSNV - 1/6
12-21011480-T-G SLCO1B3 c.334T>G p.Ser112Ala Missense 5/16 -
12-21011480-T-C SLCO1B3 c.334T>C p.Ser112Pro Missense 5/16 -
1-171076888-G-C FMO3 c.394G>C p.Asp132His Missense 4/9 -
2-234669180-T-C UGT1A1 c.247T>C p.Phe83Leu Missense 1/5 -
2-234669180-T-A UGT1A1 c.247T>A p.Phe83Ile Missense 1/5 -
2-234675829-C-T UGT1A1 c.996+18C>T - IntronicSNV - 2/4
12-21028208-G-C SLCO1B3 c.767G>C p.Gly256Ala Missense 9/16 -
2-234638451-T-G UGT1A4 c.867+10118T>G - IntronicSNV - 1/4
4-89052266-G-A ABCG2 c.478C>T p.Arg160Trp Missense 5/16 -
13-99356584-G-T SLC15A1 c.1375C>A p.Arg459Ser Missense 17/23 -
13-99356584-G-A SLC15A1 c.1375C>T p.Arg459Cys Missense 17/23 -
1-161202605-G-A NR1I3 c.540C>T p.Pro180Pro Synonymous 5/9 -
19-41510059-C-T CYP2B6 c.325C>T p.Arg109Trp Missense 2/9 -
8-18257947-A-C NAT2 c.434A>C p.Gln145Pro Missense 2/2 -
4-69973956-G-C UGT2B7 c.1226G>C p.Arg409Thr Missense 5/6 -
4-69973956-G-A UGT2B7 c.1226G>A p.Arg409Lys Missense 5/6 -
8-18080001-G-C NAT1 c.445G>C p.Val149Leu Missense 3/3 -
2-234669619-C-T UGT1A1 c.686C>T p.Pro229Leu Missense 1/5 -
2-234669619-C-A UGT1A1 c.686C>A p.Pro229Gln Missense 1/5 -
10-101556957-A-C ABCC2 c.736A>C p.Met246Leu Missense 7/32 -
10-101556957-A-T ABCC2 c.736A>T p.Met246Leu Missense 7/32 -
2-101014446-G-T CHST10 c.351C>A p.Asp117Glu Missense 5/7 -
5-125887715-T-G ALDH7A1 c.1315A>C p.Lys439Gln Missense 14/18 -
2-234675780-T-C UGT1A1 c.965T>C p.Ile322Thr Missense 2/5 -
2-234681544-G-A UGT1A1 c.*339G>A - 3-UTRSNV 5/5 -
12-21487544-A-G SLCO1A2 c.38T>C p.Ile13Thr Missense 1/14 -
8-18258351-G-A NAT2 c.838G>A p.Val280Met Missense 2/2 -
2-234676519-C-T UGT1A1 c.1021C>T p.Arg341* Nonsense 3/5 -
2-234676519-C-G UGT1A1 c.1021C>G p.Arg341Gly Missense 3/5 -
4-69693187-G-C UGT2B10 c.1228G>C p.Ala410Pro Missense 5/6 -
4-69693187-G-A UGT2B10 c.1228G>A p.Ala410Thr Missense 5/6 -
2-234526397-C-G UGT1A8 c.44C>G p.Ser15Cys Missense 1/5 -
4-69683875-C-G UGT2B10 c.847C>G p.Pro283Ala Missense 2/6 -
2-234545483-A-G UGT1A10 c.315A>G p.Ile105Met Missense 1/5 -
4-70350967-T-A UGT2B4 c.1269A>T p.Thr423Thr Synonymous 5/6 -
2-234591205-T-C UGT1A7 c.622T>C p.Trp208Arg Missense 1/5 -
7-99247772-A-G CYP3A5 c.1337T>C p.Phe446Ser Missense 12/13 -
1-171077331-T-A FMO3 c.596T>A p.Ile199Asn Missense 5/9 -
1-171077331-T-C FMO3 c.596T>C p.Ile199Thr Missense 5/9 -
6-18143949-G-A TPMT c.244C>T p.Arg82Trp Missense 4/9 -
2-234621972-G-C UGT1A10 c.856-53708G>C - IntronicSNV - 1/4
2-234621976-A-T UGT1A10 c.856-53704A>T - IntronicSNV - 1/4
10-96612542-C-G CYP2C19 c.1344C>G p.Phe448Leu Missense 9/9 -
2-234668570-C-T UGT1A4 c.868-7110C>T - IntronicSNV - 1/4
8-18258351-G-T NAT2 c.838G>T p.Val280Leu Missense 2/2 -
8-18257703-C-T NAT2 c.190C>T p.Arg64Trp Missense 2/2 -
15-75044195-G-A CYP1A2 c.1042G>A p.Asp348Asn Missense 4/7 -
2-234581346-G-A UGT1A9 c.766G>A p.Asp256Asn Missense 1/5 -
2-38298203-C-G CYP1B1 c.1294G>C p.Val432Leu Missense 3/3 -
6-18139258-C-G TPMT c.430G>C p.Gly144Arg Missense 6/9 -
4-69403599-A-G UGT2B17 c.1337T>C p.Leu446Ser Missense 6/6 -
2-234627805-T-A UGT1A4 c.339T>A p.Ser113Arg Missense 1/5 -
2-234526784-C-T UGT1A8 c.431C>T p.Ala144Val Missense 1/5 -
2-234627805-T-C UGT1A4 c.339T>C p.Ser113Ser Synonymous 1/5 -
11-62746960-C-T SLC22A6 c.1361G>A p.Arg454Gln Missense 8/10 -
8-18258122-G-C NAT2 c.609G>C p.Glu203Asp Missense 2/2 -
6-18132378-A-G TPMT c.611T>C p.Ile204Thr Missense 8/9 -
2-234621869-A-T UGT1A10 c.856-53811A>T - IntronicSNV - 1/4
2-234590969-A-G UGT1A10 c.855+44946A>G - IntronicSNV - 1/4
7-99367392-C-T CYP3A4 c.520G>A p.Asp174Asn Missense 6/13 -
10-96612522-C-G CYP2C19 c.1324C>G p.Arg442Gly Missense 9/9 -
10-96612522-C-T CYP2C19 c.1324C>T p.Arg442Cys Missense 9/9 -
2-201464350-T-C AOX1 c.317T>C p.Ile106Thr Missense 5/35 -
13-95863016-A-G ABCC4 c.551T>C p.Met184Thr Missense 5/31 -
8-18079746-C-T NAT1 c.190C>T p.Arg64Trp Missense 3/3 -
12-21036411-A-G SLCO1B3 c.1557A>G p.Ala519Ala Synonymous 13/16 -
2-234627536-C-T UGT1A4 c.70C>T p.Pro24Ser Missense 1/5 -
2-234627536-C-A UGT1A4 c.70C>A p.Pro24Thr Missense 1/5 -
19-41354538-G-T CYP2A6 c.474C>A p.Asp158Glu Missense 3/9 -
9-86955538-C-T SLC28A3 c.11G>A p.Arg4Lys Missense 2/19 -
19-41354538-G-C CYP2A6 c.474C>G p.Asp158Glu Missense 3/9 -
2-169830328-A-G ABCB11 c.1331T>C p.Val444Ala Missense 13/28 -
2-234591243-C-T UGT1A7 c.660C>T p.Cys220Cys Synonymous 1/5 -
10-101604107-C-T ABCC2 c.3872C>T p.Pro1291Leu Missense 28/32 -
4-69681936-G-A UGT2B10 c.199G>A p.Asp67Asn Missense 1/6 -
4-69681936-G-T UGT2B10 c.199G>T p.Asp67Tyr Missense 1/6 -
22-44249463-C-A SULT4A1 c.169+8631G>T - IntronicSNV - 1/6
12-21349885-A-G SLCO1B1 c.733A>G p.Ile245Val Missense 8/15 -
19-41354534-G-T CYP2A6 c.478C>A p.Leu160Ile Missense 3/9 -
5-131721174-A-G SLC22A5 c.807A>G p.Leu269Leu Synonymous 4/10 -
2-234527073-A-G UGT1A8 c.720A>G p.Thr240Thr Synonymous 1/5 -
4-69962449-G-T UGT2B7 c.211G>T p.Ala71Ser Missense 1/6 -
4-69962449-G-A UGT2B7 c.211G>A p.Ala71Thr Missense 1/6 -
4-69962449-G-C UGT2B7 c.211G>C p.Ala71Pro Missense 1/6 -
19-48386992-C-G SULT2A1 c.187G>C p.Ala63Pro Missense 2/6 -
19-41512824-C-G CYP2B6 c.499C>G p.Pro167Ala Missense 4/9 -
4-69533785-G-C UGT2B15 c.846C>G p.His282Gln Missense 2/6 -
4-69533785-G-T UGT2B15 c.846C>A p.His282Gln Missense 2/6 -
19-41356281-T-C CYP2A6 c.51A>G p.Val17Val Synonymous 1/9 -
1-98348885-G-A DPYD c.85C>T p.Arg29Cys Missense 2/23 -
2-234527035-C-A UGT1A8 c.682C>A p.Leu228Ile Missense 1/5 -
2-108922036-T-G SULT1C2 c.796T>G p.Ser266Ala Missense 8/9 -
10-96602622-C-T CYP2C19 c.990C>T p.Val330Val Synonymous 7/9 -
8-18257924-A-C NAT2 c.411A>C p.Leu137Phe Missense 2/2 -
13-95705380-G-A ABCC4 c.3425C>T p.Thr1142Met Missense 27/31 -
2-234621960-T-A UGT1A10 c.856-53720T>A - IntronicSNV - 1/4
4-89052957-G-A ABCG2 c.376C>T p.Gln126* Nonsense 4/16 -
5-131728202-T-G SLC22A5 c.1345T>G p.Tyr449Asp Missense 8/10 -
8-18080644-A-T NAT1 c.*215A>T - 3-UTRSNV 3/3 -
6-160560845-A-C SLC22A1 c.1222A>C p.Met408Leu Missense 7/11 -
2-234622061-C-A UGT1A10 c.856-53619C>A - IntronicSNV - 1/4
2-234545345-G-A UGT1A10 c.177G>A p.Met59Ile Missense 1/5 -
2-234665659-T-A UGT1A4 c.868-10021T>A - IntronicSNV - 1/4
10-96701988-G-T CYP2C9 c.371G>T p.Arg124Leu Missense 3/9 -
8-18257854-T-C NAT2 c.341T>C p.Ile114Thr Missense 2/2 -
1-171083403-G-A FMO3 c.1084G>A p.Glu362Lys Missense 7/9 -
1-171083403-G-C FMO3 c.1084G>C p.Glu362Gln Missense 7/9 -
13-95815454-T-C ABCC4 c.2230A>G p.Met744Val Missense 18/31 -
22-42522906-A-G CYP2D6 c.1262T>C p.Leu421Pro Missense 8/9 -
2-234590974-C-A UGT1A10 c.855+44951C>A - IntronicSNV - 1/4
2-234545481-A-G UGT1A10 c.313A>G p.Ile105Val Missense 1/5 -
2-234681624-T-C UGT1A1 c.*419T>C - 3-UTRSNV 5/5 -
2-234621922-T-C UGT1A10 c.856-53758T>C - IntronicSNV - 1/4
4-70160277-T-G UGT2B28 c.1340T>G p.Ile447Arg Missense 6/6 -
8-18257858-C-T NAT2 c.345C>T p.Asp115Asp Synonymous 2/2 -
10-96522472-T-C CYP2C19 c.10T>C p.Phe4Leu Missense 1/9 -
10-135347397-T-C CYP2E1 c.963T>C p.Ile321Ile Synonymous 6/9 -
2-31562412-C-T XDH c.3717G>A p.Glu1239Glu Synonymous 34/36 -
7-99264573-A-G CYP3A5 c.432+2T>C - IntronicSNV - 5/12
7-99264573-A-T CYP3A5 c.432+2T>A - IntronicSNV - 5/12
8-18258103-G-A NAT2 c.590G>A p.Arg197Gln Missense 2/2 -
10-135347397-T-G CYP2E1 c.963T>G p.Ile321Met Missense 6/9 -
7-99366047-T-A CYP3A4 c.600A>T p.Gln200His Missense 7/13 -
4-69962589-A-T UGT2B7 c.351A>T p.Ser117Ser Synonymous 1/6 -
8-18257542-T-C NAT2 c.29T>C p.Ile10Thr Missense 2/2 -
7-75609780-G-C POR c.490G>C p.Val164Leu Missense 5/16 -
11-62762035-C-A SLC22A8 c.1195G>T p.Ala399Ser Missense 8/11 -
4-69433662-C-A UGT2B17 c.541G>T p.Val181Phe Missense 1/6 -
4-69433662-C-T UGT2B17 c.541G>A p.Val181Ile Missense 1/6 -
2-234621933-C-T UGT1A10 c.856-53747C>T - IntronicSNV - 1/4
2-234675807-A-G UGT1A1 c.992A>G p.Gln331Arg Missense 2/5 -
10-96522512-T-A CYP2C19 c.50T>A p.Leu17His Missense 1/9 -
8-18080169-A-G NAT1 c.613A>G p.Met205Val Missense 3/3 -
1-110256060-G-T GSTM5 c.178-46G>T - IntronicSNV - 3/7
8-18257542-T-G NAT2 c.29T>G p.Ile10Ser Missense 2/2 -
8-18257542-T-A NAT2 c.29T>A p.Ile10Asn Missense 2/2 -
22-42522751-C-T CYP2D6 c.1319G>A p.Arg440His Missense 9/9 -
7-75609780-G-A POR c.490G>A p.Val164Met Missense 5/16 -
16-28620067-C-A SULT1A1 c.110G>T p.Arg37Leu Missense 2/8 -
22-42525089-G-A CYP2D6 c.451C>T p.Gln151* Nonsense 3/9 -
10-96522512-T-C CYP2C19 c.50T>C p.Leu17Pro Missense 1/9 -
2-234676567-C-T UGT1A1 c.1069C>T p.Gln357* Nonsense 3/5 -
8-18258196-C-T NAT2 c.683C>T p.Pro228Leu Missense 2/2 -
10-96535210-G-A CYP2C19 c.395G>A p.Arg132Gln Missense 3/9 -
5-131663062-T-G SLC22A4 c.917T>G p.Ile306Arg Missense 5/10 -
6-18139228-C-T TPMT c.460G>A p.Ala154Thr Missense 6/9 -
2-234526729-A-G UGT1A8 c.376A>G p.Ser126Gly Missense 1/5 -
7-94996741-A-G PON3 c.427T>C p.Phe143Leu Missense 5/9 -
9-86955535-C-G SLC28A3 c.14G>C p.Ser5Thr Missense 2/19 -
19-41349786-G-T CYP2A6 c.1400C>A p.Ser467* Nonsense 9/9 -
4-89052299-C-T ABCG2 c.445G>A p.Ala149Thr Missense 5/16 -
4-89052299-C-G ABCG2 c.445G>C p.Ala149Pro Missense 5/16 -
1-171076936-G-A FMO3 c.442G>A p.Gly148Arg Missense 4/9 -
12-21457448-G-A SLCO1A2 c.502C>T p.Arg168Cys Missense 5/14 -
7-122755608-C-A SLC13A1 c.1752G>T p.Ser584Ser Synonymous 15/15 -
6-160664680-G-A SLC22A2 c.1203C>T p.Ile401Ile Synonymous 7/11 -
6-160664680-G-C SLC22A2 c.1203C>G p.Ile401Met Missense 7/11 -
7-122755608-C-T SLC13A1 c.1752G>A p.Ser584Ser Synonymous 15/15 -
2-234638448-G-A UGT1A4 c.867+10115G>A - IntronicSNV - 1/4
4-89042860-T-C ABCG2 c.616A>G p.Ile206Val Missense 6/16 -
4-89042860-T-G ABCG2 c.616A>C p.Ile206Leu Missense 6/16 -
22-42525134-C-T CYP2D6 c.406G>A p.Val136Ile Missense 3/9 -
2-234621856-C-A UGT1A10 c.856-53824C>A - IntronicSNV - 1/4
10-96522469-C-T CYP2C19 c.7C>T p.Pro3Ser Missense 1/9 -
2-234669773-C-G UGT1A1 c.840C>G p.Cys280Trp Missense 1/5 -
16-28617413-A-C SULT1A1 c.739T>G p.Phe247Val Missense 7/8 -
4-69403588-G-A UGT2B17 c.1348C>T p.His450Tyr Missense 6/6 -
12-21353529-T-C SLCO1B1 c.1058T>C p.Ile353Thr Missense 9/15 -
2-234545861-C-A UGT1A10 c.693C>A p.Ala231Ala Synonymous 1/5 -
1-171061893-G-A FMO3 c.94G>A p.Glu32Lys Missense 2/9 -
1-171083174-C-T FMO3 c.855C>T p.Asn285Asn Synonymous 7/9 -
10-135342034-G-T CYP2E1 c.227G>T p.Arg76Leu Missense 2/9 -
10-135342034-G-A CYP2E1 c.227G>A p.Arg76His Missense 2/9 -
11-67353579-C-T GSTP1 c.341C>T p.Ala114Val Missense 6/7 -
7-99359670-G-C CYP3A4 c.1244C>G p.Pro415Arg Missense 11/13 -
1-97981395-T-C DPYD c.1627A>G p.Ile543Val Missense 13/23 -
11-62749434-A-T SLC22A6 c.677T>A p.Ile226Asn Missense 4/10 -
4-70346565-A-G UGT2B4 c.1374T>C p.Asp458Asp Synonymous 6/6 -
10-96701654-G-C CYP2C9 c.208G>C p.Gly70Arg Missense 2/9 -
10-96701654-G-A CYP2C9 c.208G>A p.Gly70Ser Missense 2/9 -
1-171083232-G-T FMO3 c.913G>T p.Glu305* Nonsense 7/9 -
2-234527118-A-T UGT1A8 c.765A>T p.Thr255Thr Synonymous 1/5 -
1-171083225-C-T FMO3 c.906C>T p.Asn302Asn Synonymous 7/9 -
2-234527118-A-G UGT1A8 c.765A>G p.Thr255Thr Synonymous 1/5 -
12-21453362-G-T SLCO1A2 c.830C>A p.Thr277Asn Missense 7/14 -
22-42524944-G-GAAAGGGGCGAAAGGGGCGAAAGGGGCG CYP2D6 c.522_523insTTTCGCCCCTTTCGCCCCTTTCGCCCC p.Pro174_asn175insPheargpropheargpropheargpro InFrameInsertion 4/9 -
22-42525772-G-A CYP2D6 c.320C>T p.Thr107Ile Missense 2/9 -
2-234681090-T-A UGT1A1 c.1487T>A p.Leu496* Nonsense 5/5 -
7-99245974-A-G CYP3A5 c.1463T>C p.Ile488Thr Missense 13/13 -
2-234681544-G-T UGT1A1 c.*339G>T - 3-UTRSNV 5/5 -
2-234681544-G-C UGT1A1 c.*339G>C - 3-UTRSNV 5/5 -
2-234601919-G-A UGT1A10 c.855+55896G>A - IntronicSNV - 1/4
6-18149276-T-A TPMT c.83A>T p.Glu28Val Missense 2/9 -
2-234602277-G-T UGT1A10 c.855+56254G>T - IntronicSNV - 1/4
12-21453362-G-C SLCO1A2 c.830C>G p.Thr277Ser Missense 7/14 -
2-234675826-T-C UGT1A1 c.996+15T>C - IntronicSNV - 2/4
2-234638295-A-T UGT1A4 c.867+9962A>T - IntronicSNV - 1/4
4-69964337-A-T UGT2B7 c.801A>T p.Pro267Pro Synonymous 2/6 -
12-21331860-A-G SLCO1B1 c.633A>G p.Ile211Met Missense 7/15 -
6-18130993-C-T TPMT c.644G>A p.Arg215His Missense 9/9 -
6-160577063-G-A SLC22A1 c.1555G>A p.Val519Ile Missense 10/11 -
6-160577063-G-T SLC22A1 c.1555G>T p.Val519Phe Missense 10/11 -
7-99250394-A-AA CYP3A5 c.1035_1035dup p.Thr346Tyrfs*3 Frameshift 11/13 -
2-201505835-C-A AOX1 c.2583C>A p.Asn861Lys Missense 24/35 -
11-74904362-T-C SLCO2B1 c.1175T>C p.Ile392Thr Missense 9/14 -
15-45559774-T-C SLC28A2 c.1064T>C p.Phe355Ser Missense 11/18 -
11-17419279-C-T ABCC8 c.3819G>A p.Arg1273Arg Synonymous 31/39 -
13-95859035-C-A ABCC4 c.912G>T p.Lys304Asn Missense 8/31 -
22-44249905-G-A SULT4A1 c.169+8189C>T - IntronicSNV - 1/6
14-24761467-G-T DHRS1 c.577C>A p.Pro193Thr Missense 6/9 -
13-95859035-C-G ABCC4 c.912G>C p.Lys304Asn Missense 8/31 -
13-95859035-C-T ABCC4 c.912G>A p.Lys304Lys Synonymous 8/31 -
7-99367403-A-G CYP3A4 c.509T>C p.Val170Ala Missense 6/13 -
10-96534922-G-A CYP2C19 c.276G>A p.Glu92Glu Synonymous 2/9 -
10-96534922-G-C CYP2C19 c.276G>C p.Glu92Asp Missense 2/9 -
7-75614386-T-A POR c.1259T>A p.Leu420Gln Missense 12/16 -
7-75614386-T-C POR c.1259T>C p.Leu420Pro Missense 12/16 -
10-135351362-T-C CYP2E1 c.1263T>C p.Phe421Phe Synonymous 8/9 -
10-135351362-T-G CYP2E1 c.1263T>G p.Phe421Leu Missense 8/9 -
2-234627949-G-A UGT1A4 c.483G>A p.Leu161Leu Synonymous 1/5 -
15-45545478-C-T SLC28A2 c.65C>T p.Pro22Leu Missense 2/18 -
10-96701988-G-A CYP2C9 c.371G>A p.Arg124Gln Missense 3/9 -
2-234621819-T-A UGT1A10 c.856-53861T>A - IntronicSNV - 1/4
22-42524310-C-G CYP2D6 c.709G>C p.Ala237Pro Missense 5/9 -
22-42524310-C-A CYP2D6 c.709G>T p.Ala237Ser Missense 5/9 -
1-98348908-C-T DPYD c.62G>A p.Arg21Gln Missense 2/23 -
10-101556957-A-G ABCC2 c.736A>G p.Met246Val Missense 7/32 -
2-234676905-C-T UGT1A1 c.1124C>T p.Ser375Phe Missense 4/5 -
2-234667809-C-T UGT1A4 c.868-7871C>T - IntronicSNV - 1/4
1-94574258-T-A ABCA4 c.317A>T p.Tyr106Phe Missense 4/50 -
4-69962375-T-C UGT2B7 c.137T>C p.Leu46Pro Missense 1/6 -
2-234621963-A-G UGT1A10 c.856-53717A>G - IntronicSNV - 1/4
2-234621963-A-C UGT1A10 c.856-53717A>C - IntronicSNV - 1/4
13-99376167-C-T SLC15A1 c.364G>A p.Val122Met Missense 5/23 -
10-96602623-G-A CYP2C19 c.991G>A p.Val331Ile Missense 7/9 -
22-42525182-A-G CYP2D6 c.358T>C p.Phe120Leu Missense 3/9 -
2-234676872-C-T UGT1A1 c.1091C>T p.Pro364Leu Missense 4/5 -
2-234622135-G-A UGT1A10 c.856-53545G>A - IntronicSNV - 1/4
2-108917348-C-T SULT1C2 c.373-8C>T - IntronicSNV - 4/8
6-160663420-T-G SLC22A2 c.1294A>C p.Lys432Gln Missense 8/11 -
15-45557318-G-C SLC28A2 c.734G>C p.Ser245Thr Missense 8/18 -
7-99359670-G-A CYP3A4 c.1244C>T p.Pro415Leu Missense 11/13 -
2-201505835-C-T AOX1 c.2583C>T p.Asn861Asn Synonymous 24/35 -
10-96824643-G-A CYP2C8 c.556C>T p.Arg186* Nonsense 4/9 -
2-234676872-C-G UGT1A1 c.1091C>G p.Pro364Arg Missense 4/5 -
22-42525077-C-T CYP2D6 c.463G>A p.Glu155Lys Missense 3/9 -
19-41497286-A-T CYP2B6 c.76A>T p.Thr26Ser Missense 1/9 -
2-234628270-G-A UGT1A4 c.804G>A p.Pro268Pro Synonymous 1/5 -
6-160677683-A-G SLC22A2 c.481T>C p.Phe161Leu Missense 2/11 -
22-42525823-G-A CYP2D6 c.269C>T p.Ala90Val Missense 2/9 -
15-75044238-G-A CYP1A2 c.1042+43G>A - IntronicSNV - 4/6
7-99250236-G-T CYP3A5 c.1193C>A p.Thr398Asn Missense 11/13 -
2-234669074-C-A UGT1A1 c.141C>A p.Ile47Ile Synonymous 1/5 -
13-95899303-G-C ABCC4 c.232C>G p.Pro78Ala Missense 3/31 -
2-108910751-G-A SULT1C2 c.218G>A p.Arg73Gln Missense 3/9 -
2-234638207-C-CC UGT1A4 c.867+9874_867+9874dup - IntronicInsertion - 1/4
22-42524935-G-A CYP2D6 c.517C>T p.Arg173Cys Missense 4/9 -
12-21459876-T-A SLCO1A2 c.382A>T p.Asn128Tyr Missense 4/14 -
4-69964338-T-C UGT2B7 c.802T>C p.Tyr268His Missense 2/6 -
6-160543148-C-T SLC22A1 c.181C>T p.Arg61Cys Missense 1/11 -
12-21392047-A-G SLCO1B1 c.2000A>G p.Glu667Gly Missense 15/15 -
22-44251852-T-C SULT4A1 c.169+6242A>G - IntronicSNV - 1/6
22-44251852-T-A SULT4A1 c.169+6242A>T - IntronicSNV - 1/6
15-75042204-C-G CYP1A2 c.125C>G p.Pro42Arg Missense 2/7 -
12-21355489-C-G SLCO1B1 c.1200C>G p.Phe400Leu Missense 10/15 -
12-21476983-A-G SLCO1A2 c.61-5126T>C - IntronicSNV - 1/13
11-62761083-C-A SLC22A8 c.1342G>T p.Val448Leu Missense 10/11 -
16-16101752-G-C ABCC1 c.128G>C p.Cys43Ser Missense 2/31 -
8-18079958-T-C NAT1 c.402T>C p.Pro134Pro Synonymous 3/3 -
13-99339905-G-C SLC15A1 c.1757C>G p.Pro586Arg Missense 21/23 -
8-18257795-C-T NAT2 c.282C>T p.Tyr94Tyr Synonymous 2/2 -
2-234680679-A-C UGT1A1 c.1305-229A>C - IntronicSNV - 4/4
10-101594176-C-A ABCC2 c.3298C>A p.Arg1100Ser Missense 24/32 -
13-99339905-G-A SLC15A1 c.1757C>T p.Pro586Leu Missense 21/23 -
19-41354458-C-G CYP2A6 c.493+61G>C - IntronicSNV - 3/8
10-101594177-G-A ABCC2 c.3299G>A p.Arg1100His Missense 24/32 -
19-41354458-C-A CYP2A6 c.493+61G>T - IntronicSNV - 3/8
2-234637917-C-T UGT1A3 c.145C>T p.Arg49Trp Missense 1/5 -
2-234637917-C-G UGT1A4 c.867+9584C>G - IntronicSNV - 1/4
8-18257741-C-T NAT2 c.228C>T p.Tyr76Tyr Synonymous 2/2 -
2-234638203-C-T UGT1A4 c.867+9870C>T - IntronicSNV - 1/4
8-18257741-C-A NAT2 c.228C>A p.Tyr76* Nonsense 2/2 -
8-18257741-C-G NAT2 c.228C>G p.Tyr76* Nonsense 2/2 -
4-69693103-G-A UGT2B10 c.1144G>A p.Ala382Thr Missense 5/6 -
10-96447981-G-A CYP2C18 c.431G>A p.Arg144His Missense 3/9 -
4-69974018-A-C UGT2B7 c.1288A>C p.Lys430Gln Missense 5/6 -
12-21450350-T-C SLCO1A2 c.1063A>G p.Ile355Val Missense 8/14 -
2-234622379-C-A UGT1A10 c.856-53301C>A - IntronicSNV - 1/4
2-234638245-C-G UGT1A3 c.473C>G p.Ala158Gly Missense 1/5 -
2-234526510-C-A UGT1A8 c.157C>A p.His53Asn Missense 1/5 -
15-75013005-C-T CYP1A1 c.1364G>A p.Arg455Gln Missense 7/7 -
4-70351024-T-G UGT2B4 c.1212A>C p.Ala404Ala Synonymous 5/6 -
4-70351024-T-C UGT2B4 c.1212A>G p.Ala404Ala Synonymous 5/6 -
19-41386036-T-G CYP2A7 c.454A>C p.Ser152Arg Missense 3/8 -
1-97915614-C-T DPYD c.1905+1G>A - IntronicSNV - 14/22
13-95815415-C-T ABCC4 c.2269G>A p.Glu757Lys Missense 18/31 -
13-95726518-C-A ABCC4 c.2867G>T p.Cys956Phe Missense 23/31 -
2-234681645-G-C UGT1A1 c.*440G>C - 3-UTRSNV 5/5 -
16-16230411-C-T ABCC1 c.4202C>T p.Thr1401Met Missense 29/31 -
16-16230411-C-G ABCC1 c.4202C>G p.Thr1401Arg Missense 29/31 -
11-62751852-G-A SLC22A6 c.311C>T p.Pro104Leu Missense 1/10 -
2-234627608-T-A UGT1A4 c.142T>A p.Leu48Met Missense 1/5 -
15-58284937-C-T ALDH1A2 c.701G>A p.Gly234Asp Missense 8/14 -
10-96731936-A-G CYP2C9 c.895A>G p.Thr299Ala Missense 6/9 -
2-234638245-C-T UGT1A3 c.473C>T p.Ala158Val Missense 1/5 -
2-234601859-C-A UGT1A10 c.855+55836C>A - IntronicSNV - 1/4
2-234622420-T-C UGT1A10 c.856-53260T>C - IntronicSNV - 1/4
19-41386036-T-C CYP2A7 c.454A>G p.Ser152Gly Missense 3/8 -
2-234622429-T-C UGT1A10 c.856-53251T>C - IntronicSNV - 1/4
2-234638339-C-T UGT1A4 c.867+10006C>T - IntronicSNV - 1/4
5-131649424-G-A SLC22A4 c.615G>A p.Met205Ile Missense 3/10 -
2-169847329-T-C ABCB11 c.890A>G p.Glu297Gly Missense 9/28 -
22-42524817-C-T CYP2D6 c.635G>A p.Gly212Glu Missense 4/9 -
12-21422492-G-C SLCO1A2 c.2003C>G p.Thr668Ser Missense 14/14 -
2-234665498-C-T UGT1A4 c.868-10182C>T - IntronicSNV - 1/4
2-234676883-G-A UGT1A1 c.1102G>A p.Ala368Thr Missense 4/5 -
2-234676982-G-C UGT1A1 c.1201G>C p.Ala401Pro Missense 4/5 -
11-62749344-G-A SLC22A6 c.767C>T p.Ala256Val Missense 4/10 -
4-70146704-G-A UGT2B28 c.486G>A p.Ala162Ala Synonymous 1/6 -
2-234591343-C-G UGT1A10 c.855+45320C>G - IntronicSNV - 1/4
13-99378664-C-G SLC15A1 c.61G>C p.Val21Leu Missense 3/23 -
22-44227556-A-G SULT4A1 c.603+1964T>C - IntronicSNV - 5/6
3-121647286-C-G SLC15A2 c.1225C>G p.Pro409Ala Missense 15/22 -
2-234545495-A-T UGT1A10 c.327A>T p.Leu109Phe Missense 1/5 -
19-41356310-G-A CYP2A6 c.22C>T p.Leu8Leu Synonymous 1/9 -
19-41356319-C-T CYP2A6 c.13G>A p.Gly5Arg Missense 1/9 -
8-18080116-G-A NAT1 c.560G>A p.Arg187Gln Missense 3/3 -
8-18257971-C-T NAT2 c.458C>T p.Thr153Ile Missense 2/2 -
10-101610393-G-C ABCC2 c.4348G>C p.Ala1450Pro Missense 31/32 -
2-234601755-C-T UGT1A10 c.855+55732C>T - IntronicSNV - 1/4
11-62763248-G-A SLC22A8 c.929C>T p.Ala310Val Missense 7/11 -
22-42525811-T-C CYP2D6 c.281A>G p.His94Arg Missense 2/9 -
13-99378664-C-T SLC15A1 c.61G>A p.Val21Ile Missense 3/23 -
7-75615277-G-A POR c.1706G>A p.Cys569Tyr Missense 14/16 -
13-99340576-G-A SLC15A1 c.1609C>T p.Pro537Ser Missense 20/23 -
2-169850291-C-A ABCB11 c.713G>T p.Gly238Val Missense 8/28 -
2-169850291-C-G ABCB11 c.713G>C p.Gly238Ala Missense 8/28 -
2-234545887-C-T UGT1A10 c.719C>T p.Thr240Met Missense 1/5 -
13-95899303-G-A ABCC4 c.232C>T p.Pro78Ser Missense 3/31 -
10-96541701-G-C CYP2C19 c.766G>C p.Asp256His Missense 5/9 -
6-18143853-C-T TPMT c.340G>A p.Glu114Lys Missense 4/9 -
10-96541701-G-A CYP2C19 c.766G>A p.Asp256Asn Missense 5/9 -
8-18257877-G-T NAT2 c.364G>T p.Asp122Tyr Missense 2/2 -
7-75610876-C-A POR c.683C>A p.Pro228Gln Missense 7/16 -
16-48221319-C-T ABCC11 c.2726G>A p.Ser909Asn Missense 22/31 -
2-108910712-A-C SULT1C2 c.179A>C p.Asp60Ala Missense 3/9 -
8-18257877-G-C NAT2 c.364G>C p.Asp122His Missense 2/2 -
19-41349750-C-A CYP2A6 c.1436G>T p.Gly479Val Missense 9/9 -
15-75041341-T-G CYP1A2 c.-10+103T>G - intron_variant - 1/6
6-18139941-G-A TPMT c.374C>T p.Ser125Leu Missense 5/9 -
10-101560169-G-A ABCC2 c.1058G>A p.Arg353His Missense 9/32 -
13-95953517-G-T ABCC4 c.52C>A p.Leu18Ile Missense 1/31 -
4-89052248-G-C ABCG2 c.496C>G p.Gln166Glu Missense 5/16 -
2-108910751-G-C SULT1C2 c.218G>C p.Arg73Pro Missense 3/9 -
2-234601965-A-G UGT1A10 c.855+55942A>G - IntronicSNV - 1/4
7-99359800-G-A CYP3A4 c.1114C>T p.Leu372Phe Missense 11/13 -
10-135342034-G-C CYP2E1 c.227G>C p.Arg76Pro Missense 2/9 -
12-21392011-A-T SLCO1B1 c.1964A>T p.Asp655Val Missense 15/15 -
5-131729439-T-C SLC22A5 c.1522T>C p.Phe508Leu Missense 9/10 -
4-69962360-C-T UGT2B7 c.122C>T p.Thr41Ile Missense 1/6 -
8-18080015-G-A NAT1 c.459G>A p.Thr153Thr Synonymous 3/3 -
8-18080115-C-T NAT1 c.559C>T p.Arg187* Nonsense 3/3 -
13-95953517-G-A ABCC4 c.52C>T p.Leu18Phe Missense 1/31 -
10-96740981-C-T CYP2C9 c.1003C>T p.Arg335Trp Missense 7/9 -
19-41351967-T-C CYP2A6 c.867A>G p.Lys289Lys Synonymous 6/9 -
2-234665537-T-C UGT1A4 c.868-10143T>C - IntronicSNV - 1/4
22-42525044-T-C CYP2D6 c.496A>G p.Asn166Asp Missense 3/9 -
22-42525767-T-C CYP2D6 c.325A>G p.Ile109Val Missense 2/9 -
10-101557063-G-A ABCC2 c.842G>A p.Ser281Asn Missense 7/32 -
2-234627631-C-A UGT1A4 c.165C>A p.Gly55Gly Synonymous 1/5 -
10-135351264-G-A CYP2E1 c.1165G>A p.Val389Ile Missense 8/9 -
10-135351264-G-T CYP2E1 c.1165G>T p.Val389Leu Missense 8/9 -
2-234627631-C-T UGT1A4 c.165C>T p.Gly55Gly Synonymous 1/5 -
5-131729878-A-G SLC22A5 c.1588A>G p.Met530Val Missense 10/10 -
2-234622204-C-T UGT1A10 c.856-53476C>T - IntronicSNV - 1/4
10-96522463-A-T CYP2C19 c.1A>T p.Met1Leu Missense 1/9 -
10-96818199-C-G CYP2C8 c.712G>C p.Ala238Pro Missense 5/9 -
2-234545443-T-A UGT1A10 c.275T>A p.Val92Asp Missense 1/5 -
2-234676880-C-G UGT1A3 c.1102C>G p.Arg368Gly Missense 4/5 -
2-234676880-C-T UGT1A1 c.1099C>T p.Arg367Cys Missense 4/5 -
9-86907624-T-C SLC28A3 c.982A>G p.Ile328Val Missense 11/19 -
12-21358855-A-G SLCO1B1 c.1385A>G p.Asp462Gly Missense 11/15 -
6-18134078-C-A TPMT c.537G>T p.Gln179His Missense 7/9 -
2-234581336-G-T UGT1A10 c.855+35313G>T - IntronicSNV - 1/4
11-74873726-C-T SLCO2B1 c.43C>T p.Pro15Ser Missense 2/14 -
11-74873726-C-G SLCO2B1 c.43C>G p.Pro15Ala Missense 2/14 -
10-96698528-C-T CYP2C9 c.89C>T p.Pro30Leu Missense 1/9 -
4-69433714-C-T UGT2B17 c.489G>A p.Glu163Glu Synonymous 1/6 -
7-99375702-C-T CYP3A4 c.167G>A p.Gly56Asp Missense 3/13 -
7-122809234-T-C SLC13A1 c.521A>G p.Asn174Ser Missense 4/15 -
10-96702066-G-A CYP2C9 c.449G>A p.Arg150His Missense 3/9 -
10-96702066-G-T CYP2C9 c.449G>T p.Arg150Leu Missense 3/9 -
7-99366047-T-C CYP3A4 c.600A>G p.Gln200Gln Synonymous 7/13 -
4-100232723-T-C ADH1B c.919A>G p.Met307Val Missense 7/9 -
4-69416569-C-T UGT2B17 c.1139G>A p.Gly380Asp Missense 5/6 -
6-160543317-C-G SLC22A1 c.350C>G p.Pro117Arg Missense 1/11 -
6-160543317-C-T SLC22A1 c.350C>T p.Pro117Leu Missense 1/11 -
10-96827293-T-C CYP2C8 c.324A>G p.Lys108Lys Synonymous 2/9 -
10-96827293-T-A CYP2C8 c.324A>T p.Lys108Asn Missense 2/9 -
22-42526670-C-T CYP2D6 c.124G>A p.Gly42Arg Missense 1/9 -
10-96534917-G-C CYP2C19 c.271G>C p.Gly91Arg Missense 2/9 -
19-41522631-A-G CYP2B6 c.1375A>G p.Met459Val Missense 9/9 -
1-171086457-C-T FMO3 c.1474C>T p.Arg492Trp Missense 9/9 -
6-160543229-T-C SLC22A1 c.262T>C p.Cys88Arg Missense 1/11 -
4-70160338-G-C UGT2B28 c.1401G>C p.Val467Val Synonymous 6/6 -
4-69964271-A-G UGT2B7 c.735A>G p.Thr245Thr Synonymous 2/6 -
2-234581336-G-A UGT1A9 c.756G>A p.Leu252Leu Synonymous 1/5 -
7-75615113-G-A POR c.1615G>A p.Gly539Arg Missense 13/16 -
11-62748776-G-A SLC22A6 c.877C>T p.Arg293Trp Missense 5/10 -
13-95735484-T-C ABCC4 c.2596A>G p.Ile866Val Missense 21/31 -
2-234665763-A-G UGT1A4 c.868-9917A>G - IntronicSNV - 1/4
13-95858978-T-C ABCC4 c.969A>G p.Ser323Ser Synonymous 8/31 -
7-75608875-C-T POR c.344C>T p.Ala115Val Missense 4/16 -
19-41354171-G-T CYP2A6 c.607C>A p.Arg203Ser Missense 4/9 -
10-96702066-G-C CYP2C9 c.449G>C p.Arg150Pro Missense 3/9 -
7-99366093-G-C CYP3A4 c.554C>G p.Thr185Ser Missense 7/13 -
10-96805708-C-G CYP2C8 c.820G>C p.Glu274Gln Missense 6/9 -
1-171072991-G-C FMO3 c.198G>C p.Met66Ile Missense 3/9 -
1-171072991-G-T FMO3 c.198G>T p.Met66Ile Missense 3/9 -
2-234526871-C-G UGT1A8 c.518C>G p.Ala173Gly Missense 1/5 -
6-160553407-G-T SLC22A1 c.659G>T p.Gly220Val Missense 3/11 -
2-234526871-C-T UGT1A8 c.518C>T p.Ala173Val Missense 1/5 -
6-160553407-G-C SLC22A1 c.659G>C p.Gly220Ala Missense 3/11 -
4-69696582-G-A UGT2B10 c.1572G>A p.Lys524Lys Synonymous 6/6 -
22-42525772-G-T CYP2D6 c.320C>A p.Thr107Asn Missense 2/9 -
17-19463562-A-C SLC47A1 c.983A>C p.Asp328Ala Missense 11/17 -
4-89042853-A-G ABCG2 c.623T>C p.Phe208Ser Missense 6/16 -
4-70156313-T-A UGT2B28 c.1094T>A p.Leu365His Missense 5/6 -
4-70156313-T-G UGT2B28 c.1094T>G p.Leu365Arg Missense 5/6 -
14-23598976-G-A SLC7A8 c.831C>T p.Ser277Ser Synonymous 7/9 -
1-97564155-G-A DPYD c.2656C>T p.Arg886Cys Missense 21/23 -
13-95886884-A-C ABCC4 c.511T>G p.Cys171Gly Missense 4/31 -
6-18130918-T-G TPMT c.719A>C p.Tyr240Ser Missense 9/9 -
2-234590974-C-G UGT1A10 c.855+44951C>G - IntronicSNV - 1/4
2-234590974-C-T UGT1A10 c.855+44951C>T - IntronicSNV - 1/4
4-69512847-T-G UGT2B15 c.1568A>C p.Lys523Thr Missense 6/6 -
11-62766439-G-A SLC22A8 c.715C>T p.Gln239* Nonsense 5/11 -
22-42523592-G-A CYP2D6 c.1030C>T p.Arg344* Nonsense 7/9 -
13-95886884-A-T ABCC4 c.511T>A p.Cys171Ser Missense 4/31 -
2-234590857-G-A UGT1A10 c.855+44834G>A - IntronicSNV - 1/4
2-234621869-A-G UGT1A10 c.856-53811A>G - IntronicSNV - 1/4
2-234675738-G-A UGT1A1 c.923G>A p.Gly308Glu Missense 2/5 -
4-70351024-T-A UGT2B4 c.1212A>T p.Ala404Ala Synonymous 5/6 -
2-234526893-T-C UGT1A8 c.540T>C p.Gly180Gly Synonymous 1/5 -
7-99367392-C-G CYP3A4 c.520G>C p.Asp174His Missense 6/13 -
22-42526763-C-T CYP2D6 c.31G>A p.Val11Met Missense 1/9 -
4-69528742-G-A UGT2B15 c.989C>T p.Ala330Val Missense 3/6 -
9-86955535-C-T SLC28A3 c.14G>A p.Ser5Asn Missense 2/19 -
2-234676504-C-T UGT1A1 c.1006C>T p.Arg336Trp Missense 3/5 -
10-96824643-G-C CYP2C8 c.556C>G p.Arg186Gly Missense 4/9 -
10-96707539-C-A CYP2C9 c.485C>A p.Ser162* Nonsense 4/9 -
7-17379110-G-A AHR c.1661G>A p.Arg554Lys Missense 10/11 -
4-69962619-T-C UGT2B7 c.381T>C p.Cys127Cys Synonymous 1/6 -
2-234669773-C-A UGT1A1 c.840C>A p.Cys280* Nonsense 1/5 -
10-96522561-T-C CYP2C19 c.99T>C p.Pro33Pro Synonymous 1/9 -
4-69968550-C-T UGT2B7 c.896C>T p.Ser299Phe Missense 3/6 -
8-18257665-G-T NAT2 c.152G>T p.Gly51Val Missense 2/2 -
1-97981343-A-T DPYD c.1679T>A p.Ile560Asn Missense 13/23 -
1-97981343-A-C DPYD c.1679T>G p.Ile560Ser Missense 13/23 -
6-18130956-A-T TPMT c.681T>A p.His227Gln Missense 9/9 -
1-171086441-A-G FMO3 c.1458A>G p.Ile486Met Missense 9/9 -
1-171083242-A-G FMO3 c.923A>G p.Glu308Gly Missense 7/9 -
4-69433763-T-A UGT2B17 c.440A>T p.Asp147Val Missense 1/6 -
6-18148141-A-G TPMT c.146T>C p.Leu49Ser Missense 3/9 -
4-69512917-C-T UGT2B15 c.1498G>A p.Ala500Thr Missense 6/6 -
1-97915614-C-G DPYD c.1905+1G>C - IntronicSNV - 14/22
10-101610393-G-T ABCC2 c.4348G>T p.Ala1450Ser Missense 31/32 -
15-75013026-A-G CYP1A1 c.1343T>C p.Ile448Thr Missense 7/7 -
11-74880370-G-A SLCO2B1 c.601G>A p.Val201Met Missense 5/14 -
2-234591343-C-T UGT1A10 c.855+45320C>T - IntronicSNV - 1/4
7-99273815-G-A CYP3A5 c.88C>T p.His30Tyr Missense 2/13 -
2-234545932-C-G UGT1A10 c.764C>G p.Thr255Arg Missense 1/5 -
2-234665498-C-A UGT1A4 c.868-10182C>A - IntronicSNV - 1/4
10-101610393-G-A ABCC2 c.4348G>A p.Ala1450Thr Missense 31/32 -
15-75013026-A-T CYP1A1 c.1343T>A p.Ile448Asn Missense 7/7 -
2-234526794-T-C UGT1A8 c.441T>C p.Leu147Leu Synonymous 1/5 -
8-18257877-G-A NAT2 c.364G>A p.Asp122Asn Missense 2/2 -
2-234526794-T-G UGT1A8 c.441T>G p.Leu147Leu Synonymous 1/5 -
22-42526717-C-T CYP2D6 c.77G>A p.Arg26His Missense 1/9 -
19-41354171-G-C CYP2A6 c.607C>G p.Arg203Gly Missense 4/9 -
19-41354171-G-A CYP2A6 c.607C>T p.Arg203Cys Missense 4/9 -
17-19584971-C-T SLC47A2 c.1285G>A p.Gly429Arg Missense 14/17 -
19-41349732-C-G CYP2A6 c.1454G>C p.Arg485Pro Missense 9/9 -
10-101594176-C-T ABCC2 c.3298C>T p.Arg1100Cys Missense 24/32 -
19-41349732-C-A CYP2A6 c.1454G>T p.Arg485Leu Missense 9/9 -
19-41497272-A-T CYP2B6 c.62A>T p.Gln21Leu Missense 1/9 -
2-234680912-A-T UGT1A1 c.1309A>T p.Lys437* Nonsense 5/5 -
15-75015206-A-G CYP1A1 c.233T>C p.Ile78Thr Missense 2/7 -
11-64359297-G-A SLC22A12 c.269G>A p.Arg90His Missense 1/10 -
10-96708974-A-G CYP2C9 c.752A>G p.His251Arg Missense 5/9 -
1-110233147-C-T GSTM1 c.528C>T p.Asp176Asp Synonymous 7/8 -
17-19437187-T-C SLC47A1 c.1-66T>C - 5-UTRSNV 1/17 -
4-69962774-C-A UGT2B7 c.536C>A p.Thr179Asn Missense 1/6 -
2-234581374-T-A UGT1A10 c.855+35351T>A - IntronicSNV - 1/4
19-41351309-A-G CYP2A6 c.1051T>C p.Tyr351His Missense 7/9 -
2-234622085-C-T UGT1A10 c.856-53595C>T - IntronicSNV - 1/4
4-69962774-C-T UGT2B7 c.536C>T p.Thr179Ile Missense 1/6 -
6-160670282-A-C SLC22A2 c.808T>G p.Ser270Ala Missense 4/11 -
2-234545642-T-C UGT1A10 c.474T>C p.Ala158Ala Synonymous 1/5 -
8-18258151-C-T NAT2 c.638C>T p.Pro213Leu Missense 2/2 -
15-75041351-C-T CYP1A2 c.-10+113C>T - intron_variant - 1/6
2-234665761-C-G UGT1A4 c.868-9919C>G - IntronicSNV - 1/4
15-75047191-C-T CYP1A2 c.1313C>T p.Thr438Ile Missense 7/7 -
19-41510286-G-A CYP2B6 c.419G>A p.Arg140Gln Missense 3/9 -
19-41510286-G-C CYP2B6 c.419G>C p.Arg140Pro Missense 3/9 -
7-20691047-T-C ABCB5 c.2T>C p.Met1Thr Missense 4/19 -
13-95830299-C-T ABCC4 c.1592G>A p.Arg531Gln Missense 12/31 -
4-69683844-T-C UGT2B10 c.816T>C p.Asn272Asn Synonymous 2/6 -
2-234667582-A-T UGT1A4 c.868-8098A>T - IntronicSNV - 1/4
15-75047191-C-A CYP1A2 c.1313C>A p.Thr438Asn Missense 7/7 -
1-171076935-C-T FMO3 c.441C>T p.Ser147Ser Synonymous 4/9 -
6-18130956-A-C TPMT c.681T>G p.His227Gln Missense 9/9 -
6-18130956-A-G TPMT c.681T>C p.His227His Synonymous 9/9 -
22-44253089-C-T SULT4A1 c.169+5005G>A - IntronicSNV - 1/6
4-89061114-C-T ABCG2 c.34G>A p.Val12Met Missense 2/16 -
2-234669462-T-C UGT1A1 c.529T>C p.Cys177Arg Missense 1/5 -
11-62752014-C-A SLC22A6 c.149G>T p.Arg50Leu Missense 1/10 -
11-62752014-C-T SLC22A6 c.149G>A p.Arg50His Missense 1/10 -
2-234637803-T-C UGT1A3 c.31T>C p.Trp11Arg Missense 1/5 -
6-160664685-G-T SLC22A2 c.1198C>A p.Arg400Ser Missense 7/11 -
2-234667582-A-C UGT1A4 c.868-8098A>C - IntronicSNV - 1/4
2-234667582-A-G UGT1A4 c.868-8098A>G - IntronicSNV - 1/4
10-96535173-T-C CYP2C19 c.358T>C p.Trp120Arg Missense 3/9 -
4-69693154-C-T UGT2B10 c.1195C>T p.Pro399Ser Missense 5/6 -
22-44253089-C-G SULT4A1 c.169+5005G>C - IntronicSNV - 1/6
2-234669457-T-A UGT1A1 c.524T>A p.Leu175Gln Missense 1/5 -
2-234591005-G-C UGT1A7 c.422G>C p.Cys141Ser Missense 1/5 -
11-62752014-C-G SLC22A6 c.149G>C p.Arg50Pro Missense 1/10 -
2-169783827-G-A ABCB11 c.3457C>T p.Arg1153Cys Missense 26/28 -
6-18130925-T-C TPMT c.712A>G p.Lys238Glu Missense 9/9 -
8-18258370-G-A NAT2 c.857G>A p.Gly286Glu Missense 2/2 -
1-161203078-G-A NR1I3 c.289C>T p.Arg97Trp Missense 4/9 -
19-41354198-T-C CYP2A6 c.580A>G p.Lys194Glu Missense 4/9 -
19-41512918-T-C CYP2B6 c.593T>C p.Met198Thr Missense 4/9 -
12-21331606-T-G SLCO1B1 c.578T>G p.Leu193Arg Missense 6/15 -
22-42525035-C-T CYP2D6 c.505G>A p.Gly169Arg Missense 3/9 -
22-42525035-C-A CYP2D6 c.505G>T p.Gly169* Nonsense 3/9 -
7-75615552-G-A POR c.1891G>A p.Val631Ile Missense 15/16 -
13-99378642-A-T SLC15A1 c.83T>A p.Phe28Tyr Missense 3/23 -
4-69693099-T-C UGT2B10 c.1140T>C p.Tyr380Tyr Synonymous 5/6 -
15-75013643-G-A CYP1A1 c.1063C>T p.Arg355Trp Missense 5/7 -
2-234637789-A-G UGT1A4 c.867+9456A>G - IntronicSNV - 1/4
5-131676320-C-T SLC22A4 c.1507C>T p.Leu503Phe Missense 9/10 -
19-41510030-G-A CYP2B6 c.296G>A p.Gly99Glu Missense 2/9 -
2-234637912-T-A UGT1A4 c.867+9579T>A - IntronicSNV - 1/4
19-41512828-C-T CYP2B6 c.503C>T p.Thr168Ile Missense 4/9 -
13-99376180-G-T SLC15A1 c.351C>A p.Ser117Arg Missense 5/23 -
6-160664685-G-A SLC22A2 c.1198C>T p.Arg400Cys Missense 7/11 -
5-131647935-G-A SLC22A4 c.475G>A p.Val159Met Missense 2/10 -
12-21331891-A-G SLCO1B1 c.664A>G p.Ile222Val Missense 7/15 -
15-75013643-G-T CYP1A1 c.1063C>A p.Arg355Arg Synonymous 5/7 -
2-234638203-C-G UGT1A4 c.867+9870C>G - IntronicSNV - 1/4
6-18143769-A-G TPMT c.366+58T>C - IntronicSNV - 4/8
16-16139709-G-A ABCC1 c.1057G>A p.Val353Met Missense 9/31 -
10-101595975-G-T ABCC2 c.3542G>T p.Arg1181Leu Missense 25/32 -
13-99376180-G-A SLC15A1 c.351C>T p.Ser117Ser Synonymous 5/23 -
16-16139709-G-T ABCC1 c.1057G>T p.Val353Leu Missense 9/31 -
19-41497274-C-T CYP2B6 c.64C>T p.Arg22Cys Missense 1/9 -
1-171080028-T-C FMO3 c.717T>C p.Phe239Phe Synonymous 6/9 -
2-234627943-G-A UGT1A4 c.477G>A p.Ala159Ala Synonymous 1/5 -
10-101604207-C-G ABCC2 c.3972C>G p.Ile1324Met Missense 28/32 -
10-101604207-C-T ABCC2 c.3972C>T p.Ile1324Ile Synonymous 28/32 -
10-101595996-T-A ABCC2 c.3563T>A p.Val1188Glu Missense 25/32 -
10-101604163-C-G ABCC2 c.3928C>G p.Arg1310Gly Missense 28/32 -
2-234638006-A-G UGT1A4 c.867+9673A>G - IntronicSNV - 1/4
2-234545473-C-T UGT1A10 c.305C>T p.Ala102Val Missense 1/5 -
19-41356316-T-G CYP2A6 c.16A>C p.Met6Leu Missense 1/9 -
2-234545473-C-A UGT1A10 c.305C>A p.Ala102Glu Missense 1/5 -
2-234526987-A-G UGT1A8 c.634A>G p.Met212Val Missense 1/5 -
14-70245193-G-A SLC10A1 c.800C>T p.Ser267Phe Missense 4/5 -
2-234526987-A-T UGT1A8 c.634A>T p.Met212Leu Missense 1/5 -
22-42525132-G-C CYP2D6 c.408C>G p.Val136Val Synonymous 3/9 -
22-42523610-C-T CYP2D6 c.1012G>A p.Val338Met Missense 7/9 -
3-119530419-G-T NR1I2 c.365G>T p.Arg122Leu Missense 4/9 -
3-119530419-G-A NR1I2 c.365G>A p.Arg122Gln Missense 4/9 -
10-96701715-T-C CYP2C9 c.269T>C p.Leu90Pro Missense 2/9 -
7-2472892-C-A CHST12 c.618C>A p.His206Gln Missense 2/2 -
7-2472892-C-T CHST12 c.618C>T p.His206His Synonymous 2/2 -
2-234669759-G-T UGT1A1 c.826G>T p.Gly276Cys Missense 1/5 -
10-135352356-A-T CYP2E1 c.1370A>T p.His457Leu Missense 9/9 -
4-89018733-A-G ABCG2 c.1519T>C p.Phe507Leu Missense 13/16 -
16-16173286-C-T ABCC1 c.2066C>T p.Ser689Leu Missense 16/31 -
2-219674482-G-T CYP27A1 c.438G>T p.Pro146Pro Synonymous 2/9 -
6-18131012-C-T TPMT c.626-1G>A - IntronicSNV - 8/8
7-87133651-C-T ABCB1 c.3751G>A p.Val1251Ile Missense 29/29 -
8-18258279-A-T NAT2 c.766A>T p.Lys256* Nonsense 2/2 -
7-75614973-T-A POR c.1475T>A p.Val492Glu Missense 13/16 -
22-44251648-C-T SULT4A1 c.169+6446G>A - IntronicSNV - 1/6
11-14899811-G-A CYP2R1 c.1363C>T p.Arg455Trp Missense 5/5 -
10-96541756-T-A CYP2C19 c.819+2T>A - IntronicSNV - 5/8
22-42523475-C-G CYP2D6 c.1147G>C p.Glu383Gln Missense 7/9 -
4-69973863-A-G UGT2B7 c.1133A>G p.Asn378Ser Missense 5/6 -
2-234622110-C-G UGT1A10 c.856-53570C>G - IntronicSNV - 1/4
4-69973863-A-C UGT2B7 c.1133A>C p.Asn378Thr Missense 5/6 -
4-69973863-A-T UGT2B7 c.1133A>T p.Asn378Ile Missense 5/6 -
19-41512824-C-T CYP2B6 c.499C>T p.Pro167Ser Missense 4/9 -
2-234622110-C-T UGT1A10 c.856-53570C>T - IntronicSNV - 1/4
10-96535264-G-A CYP2C19 c.449G>A p.Arg150His Missense 3/9 -
4-69417570-A-G UGT2B17 c.1065T>C p.Tyr355Tyr Synonymous 4/6 -
12-21015737-C-G SLCO1B3 c.676C>G p.Leu226Val Missense 8/16 -
6-18143955-C-G TPMT c.238G>C p.Ala80Pro Missense 4/9 -
3-119529002-C-T NR1I2 c.292C>T p.Arg98Cys Missense 3/9 -
4-69973867-C-A UGT2B7 c.1137C>A p.Gly379Gly Synonymous 5/6 -
19-41515263-A-G CYP2B6 c.785A>G p.Lys262Arg Missense 5/9 -
10-101595882-G-A ABCC2 c.3449G>A p.Arg1150His Missense 25/32 -
8-18258135-T-C NAT2 c.622T>C p.Tyr208His Missense 2/2 -
6-160553314-C-T SLC22A1 c.566C>T p.Ser189Leu Missense 3/11 -
19-41522715-C-A CYP2B6 c.1459C>A p.Arg487Ser Missense 9/9 -
19-41522715-C-T CYP2B6 c.1459C>T p.Arg487Cys Missense 9/9 -
10-101595950-A-G ABCC2 c.3517A>G p.Ile1173Val Missense 25/32 -
10-101595950-A-T ABCC2 c.3517A>T p.Ile1173Phe Missense 25/32 -
4-89039360-A-C ABCG2 c.742T>G p.Ser248Ala Missense 7/16 -
6-18139200-C-T TPMT c.488G>A p.Arg163His Missense 6/9 -
19-41349774-A-G CYP2A6 c.1412T>C p.Ile471Thr Missense 9/9 -
7-99258139-C-T CYP3A5 c.1009G>A p.Ala337Thr Missense 10/13 -
2-234545496-A-C UGT1A10 c.328A>C p.Met110Leu Missense 1/5 -
7-117307108-G-A CFTR c.4389G>A p.Gln1463Gln Synonymous 27/27 -
13-99356611-C-T SLC15A1 c.1348G>A p.Val450Ile Missense 17/23 -
2-234545496-A-T UGT1A10 c.328A>T p.Met110Leu Missense 1/5 -
15-75012987-G-A CYP1A1 c.1382C>T p.Thr461Ile Missense 7/7 -
15-75012987-G-T CYP1A1 c.1382C>A p.Thr461Asn Missense 7/7 -
12-21329813-C-T SLCO1B1 c.463C>T p.Pro155Ser Missense 5/15 -
17-19618447-C-T SLC47A2 c.207G>A p.Ser69Ser Synonymous 2/17 -
1-171083259-G-A FMO3 c.940G>A p.Glu314Lys Missense 7/9 -
1-171083259-G-T FMO3 c.940G>T p.Glu314* Nonsense 7/9 -
1-171072975-A-G FMO3 c.182A>G p.Asn61Ser Missense 3/9 -
2-234545471-G-A UGT1A10 c.303G>A p.Gln101Gln Synonymous 1/5 -
4-69972952-C-A UGT2B7 c.1062C>A p.Tyr354* Nonsense 4/6 -
4-69972952-C-T UGT2B7 c.1062C>T p.Tyr354Tyr Synonymous 4/6 -
19-41518370-C-T CYP2B6 c.1132C>T p.Arg378* Nonsense 7/9 -
9-86924586-C-T SLC28A3 c.200G>A p.Arg67Lys Missense 4/19 -
4-70346564-G-A UGT2B4 c.1375C>T p.Arg459* Nonsense 6/6 -
6-160663420-T-C SLC22A2 c.1294A>G p.Lys432Glu Missense 8/11 -
2-169791806-C-T ABCB11 c.2944G>A p.Gly982Arg Missense 23/28 -
7-99367825-T-A CYP3A4 c.352A>T p.Ile118Phe Missense 5/13 -
2-234675523-C-A UGT1A1 c.865-157C>A - IntronicSNV - 1/4
2-234545509-G-C UGT1A10 c.341G>C p.Ser114Thr Missense 1/5 -
7-99367825-T-C CYP3A4 c.352A>G p.Ile118Val Missense 5/13 -
22-42523855-G-C CYP2D6 c.974C>G p.Pro325Arg Missense 6/9 -
10-96740982-G-A CYP2C9 c.1004G>A p.Arg335Gln Missense 7/9 -
12-21069155-A-AC SLCO1B3 c.2083_2084insC p.Met695Thrfs*13 Frameshift 16/16 -
12-21349910-G-A SLCO1B1 c.758G>A p.Arg253Gln Missense 8/15 -
12-21358933-G-C SLCO1B1 c.1463G>C p.Gly488Ala Missense 11/15 -
10-96748777-C-T CYP2C9 c.1465C>T p.Pro489Ser Missense 9/9 -
4-89018733-A-C ABCG2 c.1519T>G p.Phe507Val Missense 13/16 -
2-234601714-G-T UGT1A10 c.855+55691G>T - IntronicSNV - 1/4
10-96701991-G-T CYP2C9 c.374G>T p.Arg125Leu Missense 3/9 -
10-96701991-G-A CYP2C9 c.374G>A p.Arg125His Missense 3/9 -
10-96701991-G-C CYP2C9 c.374G>C p.Arg125Pro Missense 3/9 -
19-41355738-C-A CYP2A6 c.328G>T p.Val110Phe Missense 2/9 -
19-48374789-C-T SULT2A1 c.781G>A p.Ala261Thr Missense 6/6 -
17-19476126-G-A SLC47A1 c.1438G>A p.Val480Met Missense 16/17 -
19-41518221-T-C CYP2B6 c.983T>C p.Ile328Thr Missense 7/9 -
10-96824688-C-T CYP2C8 c.511G>A p.Gly171Ser Missense 4/9 -
2-234680991-A-C UGT1A1 c.1388A>C p.Glu463Ala Missense 5/5 -
2-234680991-A-G UGT1A1 c.1388A>G p.Glu463Gly Missense 5/5 -
2-234680991-A-T UGT1A1 c.1388A>T p.Glu463Val Missense 5/5 -
2-234627496-G-T UGT1A4 c.30G>T p.Pro10Pro Synonymous 1/5 -
19-48377980-T-C SULT2A1 c.679A>G p.Lys227Glu Missense 5/6 -
16-28617413-A-G SULT1A1 c.739T>C p.Phe247Leu Missense 7/8 -
19-48377980-T-A SULT2A1 c.679A>T p.Lys227* Nonsense 5/6 -
10-101564023-C-T ABCC2 c.1457C>T p.Thr486Ile Missense 10/32 -
2-234638554-T-C UGT1A4 c.867+10221T>C - IntronicSNV - 1/4
2-234669681-T-C UGT1A1 c.748T>C p.Ser250Pro Missense 1/5 -
13-95705380-G-C ABCC4 c.3425C>G p.Thr1142Arg Missense 27/31 -
1-171076952-C-T FMO3 c.458C>T p.Pro153Leu Missense 4/9 -
22-42524819-C-CC CYP2D6 c.635_635dup p.Leu213Thrfs*41 Frameshift 4/9 -
4-69962610-A-G UGT2B7 c.372A>G p.Arg124Arg Synonymous 1/6 -
4-69962610-A-T UGT2B7 c.372A>T p.Arg124Ser Missense 1/6 -
10-101591385-C-A ABCC2 c.2901C>A p.Tyr967* Nonsense 22/32 -
1-171077372-C-T FMO3 c.627+10C>T - IntronicSNV - 5/8
15-75047363-C-A CYP1A2 c.1485C>A p.Tyr495* Nonsense 7/7 -
15-75047363-C-T CYP1A2 c.1485C>T p.Tyr495Tyr Synonymous 7/7 -
16-16142079-G-T ABCC1 c.1299G>T p.Arg433Ser Missense 10/31 -
1-171077372-C-G FMO3 c.627+10C>G - IntronicSNV - 5/8
1-171077372-C-A FMO3 c.627+10C>A - IntronicSNV - 5/8
6-160671657-G-A SLC22A2 c.596C>T p.Thr199Ile Missense 3/11 -
19-41384786-G-T CYP2A7 c.557C>A p.Ala186Asp Missense 4/8 -
13-95839040-C-T ABCC4 c.1460G>A p.Gly487Glu Missense 11/31 -
10-96540331-G-T CYP2C19 c.557G>T p.Arg186Leu Missense 4/9 -
11-74883577-G-A SLCO2B1 c.935G>A p.Arg312Gln Missense 7/14 -
10-96540331-G-A CYP2C19 c.557G>A p.Arg186His Missense 4/9 -
2-234545881-C-T UGT1A10 c.713C>T p.Pro238Leu Missense 1/5 -
4-89020503-A-G ABCG2 c.1465T>C p.Phe489Leu Missense 12/16 -
12-21329738-A-T SLCO1B1 c.388A>T p.Asn130Tyr Missense 5/15 -
11-74883577-G-T SLCO2B1 c.935G>T p.Arg312Leu Missense 7/14 -
2-234621811-G-A UGT1A10 c.856-53869G>A - IntronicSNV - 1/4
2-234545451-C-G UGT1A10 c.283C>G p.His95Asp Missense 1/5 -
2-234545451-C-T UGT1A10 c.283C>T p.His95Tyr Missense 1/5 -
2-234545451-C-A UGT1A10 c.283C>A p.His95Asn Missense 1/5 -
10-96827030-C-A CYP2C8 c.416G>T p.Arg139Met Missense 3/9 -
16-16215877-G-A ABCC1 c.3436G>A p.Val1146Ile Missense 24/31 -
9-86902991-G-T SLC28A3 c.1252C>A p.Leu418Ile Missense 13/19 -
8-18080196-T-G NAT1 c.640T>G p.Ser214Ala Missense 3/3 -
10-96827030-C-T CYP2C8 c.416G>A p.Arg139Lys Missense 3/9 -
8-18080440-A-G NAT1 c.*11A>G - 3-UTRSNV 3/3 -
2-234675523-C-T UGT1A1 c.865-157C>T - IntronicSNV - 1/4
4-69681848-T-C UGT2B10 c.111T>C p.Asn37Asn Synonymous 1/6 -
12-21032506-A-G SLCO1B3 c.1272A>G p.Leu424Leu Synonymous 11/16 -
12-21032506-A-C SLCO1B3 c.1272A>C p.Leu424Leu Synonymous 11/16 -
17-19445761-G-A SLC47A1 c.191G>A p.Gly64Asp Missense 2/17 -
19-41356246-C-T CYP2A6 c.86G>A p.Ser29Asn Missense 1/9 -
8-18080440-A-T NAT1 c.*11A>T - 3-UTRSNV 3/3 -
10-96535246-G-C CYP2C19 c.431G>C p.Arg144Pro Missense 3/9 -
10-96535246-G-A CYP2C19 c.431G>A p.Arg144His Missense 3/9 -
15-75047407-G-A CYP1A2 c.1529G>A p.Arg510Gln Missense 7/7 -
15-75047407-G-T CYP1A2 c.1529G>T p.Arg510Leu Missense 7/7 -
4-70355211-T-A UGT2B4 c.948A>T p.Thr316Thr Synonymous 3/6 -
5-131662989-C-T SLC22A4 c.844C>T p.Arg282* Nonsense 5/10 -
4-70355211-T-C UGT2B4 c.948A>G p.Thr316Thr Synonymous 3/6 -
4-69533802-A-C UGT2B15 c.829T>G p.Phe277Val Missense 2/6 -
16-16208683-G-A ABCC1 c.3140G>A p.Cys1047Tyr Missense 23/31 -
15-75047184-G-A CYP1A2 c.1306G>A p.Asp436Asn Missense 7/7 -
12-21054369-G-A SLCO1B3 c.1833G>A p.Gly611Gly Synonymous 15/16 -
16-16208683-G-C ABCC1 c.3140G>C p.Cys1047Ser Missense 23/31 -
16-16208683-G-T ABCC1 c.3140G>T p.Cys1047Phe Missense 23/31 -
17-19480710-G-C SLC47A1 c.1557G>C p.Gln519His Missense 17/17 -
7-99273821-G-A CYP3A5 c.82C>T p.Arg28Cys Missense 2/13 -
2-234665659-T-G UGT1A4 c.868-10021T>G - IntronicSNV - 1/4
3-119530472-G-A NR1I2 c.418G>A p.Val140Met Missense 4/9 -
2-220082984-T-C ABCB6 c.412A>G p.Met138Val Missense 1/19 -
2-234627497-C-T UGT1A4 c.31C>T p.Arg11Trp Missense 1/5 -
6-160551204-G-A SLC22A1 c.480G>A p.Leu160Leu Synonymous 2/11 -
6-160551204-G-C SLC22A1 c.480G>C p.Leu160Phe Missense 2/11 -
6-160551204-G-T SLC22A1 c.480G>T p.Leu160Phe Missense 2/11 -
7-99364035-T-TT CYP3A4 c.827_827dup p.Asp276Glufs*9 Frameshift 9/13 -
1-97544627-C-A DPYD c.2983G>T p.Val995Phe Missense 23/23 -
7-99367427-C-T CYP3A4 c.485G>A p.Arg162Gln Missense 6/13 -
22-42523621-T-G CYP2D6 c.1001A>C p.Glu334Ala Missense 7/9 -
1-171083479-G-T FMO3 c.1160G>T p.Arg387Leu Missense 7/9 -
10-101604130-A-C ABCC2 c.3895A>C p.Lys1299Gln Missense 28/32 -
2-234545852-A-G UGT1A10 c.684A>G p.Leu228Leu Synonymous 1/5 -
4-70160259-A-G UGT2B28 c.1322A>G p.Asn441Ser Missense 6/6 -
7-99273745-T-C CYP3A5 c.158A>G p.Tyr53Cys Missense 2/13 -
19-41352762-G-C CYP2A6 c.831+18C>G - IntronicSNV - 5/8
7-99366046-C-T CYP3A4 c.601G>A p.Asp201Asn Missense 7/13 -
3-119526176-C-T NR1I2 c.79C>T p.Pro27Ser Missense 2/9 -
19-41518708-C-A CYP2B6 c.1282C>A p.Pro428Thr Missense 8/9 -
6-160560845-A-G SLC22A1 c.1222A>G p.Met408Val Missense 7/11 -
8-18080343-A-G NAT1 c.787A>G p.Ile263Val Missense 3/3 -
22-42523805-C-T CYP2D6 c.985+39G>A - IntronicSNV - 6/8
1-171083398-T-C FMO3 c.1079T>C p.Leu360Pro Missense 7/9 -
2-234545481-A-T UGT1A10 c.313A>T p.Ile105Leu Missense 1/5 -
4-89031974-AAA-TAT ABCG2 c.1194+2479_1194+2481delinsATA - IntronicBlockSubstitution - 9/15
10-96818119-G-C CYP2C8 c.792C>G p.Ile264Met Missense 5/9 -
16-28607196-G-C SULT1A2 c.56C>G p.Pro19Arg Missense 2/8 -
16-28607196-G-A SULT1A2 c.56C>T p.Pro19Leu Missense 2/8 -
10-101567857-T-G ABCC2 c.1686T>G p.Phe562Leu Missense 13/32 -
22-42524817-C-G CYP2D6 c.635G>C p.Gly212Ala Missense 4/9 -
8-30537086-G-A GSR c.1520C>T p.Thr507Ile Missense 13/13 -
10-101611294-G-A ABCC2 c.4544G>A p.Cys1515Tyr Missense 32/32 -
10-96818119-G-A CYP2C8 c.792C>T p.Ile264Ile Synonymous 5/9 -
4-70146230-G-A UGT2B28 c.12G>A p.Lys4Lys Synonymous 1/6 -
7-17378908-A-G AHR c.1459A>G p.Asn487Asp Missense 10/11 -
13-95847145-G-A ABCC4 c.1208C>T p.Pro403Leu Missense 9/31 -
10-96602618-G-A CYP2C19 c.986G>A p.Arg329His Missense 7/9 -
2-234668977-T-G UGT1A1 c.44T>G p.Leu15Arg Missense 1/5 -
7-75615731-G-A POR c.1975G>A p.Ala659Thr Missense 16/16 -
6-18143837-T-G TPMT c.356A>C p.Lys119Thr Missense 4/9 -
2-234638101-T-A UGT1A4 c.867+9768T>A - IntronicSNV - 1/4
10-101559070-C-G ABCC2 c.974C>G p.Ser325* Nonsense 8/32 -
10-101559070-C-A ABCC2 c.974C>A p.Ser325* Nonsense 8/32 -
1-97564154-C-T DPYD c.2657G>A p.Arg886His Missense 21/23 -
1-110279701-C-T GSTM3 c.670G>A p.Val224Ile Missense 9/9 -
2-234590616-C-A UGT1A10 c.855+44593C>A - IntronicSNV - 1/4
2-234590616-C-G UGT1A10 c.855+44593C>G - IntronicSNV - 1/4
8-18080651-A-C NAT1 c.*222A>C - 3-UTRSNV 3/3 -
13-99356607-G-T SLC15A1 c.1352C>A p.Thr451Asn Missense 17/23 -
22-42523943-A-T CYP2D6 c.886T>A p.Cys296Ser Missense 6/9 -
13-99376181-C-G SLC15A1 c.350G>C p.Ser117Thr Missense 5/23 -
4-70146704-G-T UGT2B28 c.486G>T p.Ala162Ala Synonymous 1/6 -
10-101591866-G-A ABCC2 c.3236G>A p.Arg1079Gln Missense 23/32 -
13-99376181-C-T SLC15A1 c.350G>A p.Ser117Asn Missense 5/23 -
6-160677669-C-G SLC22A2 c.495G>C p.Met165Ile Missense 2/11 -
1-161203078-G-T NR1I3 c.289C>A p.Arg97Arg Synonymous 4/9 -
12-21015737-C-T SLCO1B3 c.676C>T p.Leu226Leu Synonymous 8/16 -
2-234669558-C-G UGT1A1 c.625C>G p.Arg209Gly Missense 1/5 -
6-160677669-C-T SLC22A2 c.495G>A p.Met165Ile Missense 2/11 -
5-131714106-C-T SLC22A5 c.430C>T p.Leu144Phe Missense 2/10 -
1-97544543-G-T DPYD c.3067C>A p.Pro1023Thr Missense 23/23 -
6-160557271-C-G SLC22A1 c.859C>G p.Arg287Gly Missense 5/11 -
2-234621780-T-C UGT1A10 c.856-53900T>C - IntronicSNV - 1/4
6-160557271-C-T SLC22A1 c.859C>T p.Arg287Trp Missense 5/11 -
7-75610390-T-A POR c.541T>A p.Tyr181Asn Missense 6/16 -
7-99262835-C-T CYP3A5 c.624G>A p.Lys208Lys Synonymous 7/13 -
15-75043593-G-A CYP1A2 c.895G>A p.Gly299Ser Missense 3/7 -
2-234621972-G-A UGT1A10 c.856-53708G>A - IntronicSNV - 1/4
2-234545583-G-A UGT1A10 c.415G>A p.Glu139Lys Missense 1/5 -
7-75610390-T-G POR c.541T>G p.Tyr181Asp Missense 6/16 -
7-87174198-G-T ABCB1 c.2005C>A p.Arg669Ser Missense 17/29 -
7-87174198-G-A ABCB1 c.2005C>T p.Arg669Cys Missense 17/29 -
16-28620067-C-T SULT1A1 c.110G>A p.Arg37Gln Missense 2/8 -
4-70156392-A-G UGT2B28 c.1173A>G p.Val391Val Synonymous 5/6 -
2-234591339-G-A UGT1A10 c.855+45316G>A - IntronicSNV - 1/4
15-75047184-G-C CYP1A2 c.1306G>C p.Asp436His Missense 7/7 -
11-62763544-A-G SLC22A8 c.842T>C p.Val281Ala Missense 6/11 -
5-131729935-C-T SLC22A5 c.1645C>T p.Pro549Ser Missense 10/10 -
11-62763544-A-T SLC22A8 c.842T>A p.Val281Asp Missense 6/11 -
13-99378664-C-A SLC15A1 c.61G>T p.Val21Phe Missense 3/23 -
1-98058899-C-A DPYD c.1003G>T p.Val335Leu Missense 10/23 -
2-234590970-T-G UGT1A7 c.387T>G p.Asn129Lys Missense 1/5 -
14-70245053-T-C SLC10A1 c.940A>G p.Lys314Glu Missense 4/5 -
8-143999146-C-T CYP11B2 c.111G>A p.Pro37Pro Synonymous 1/9 -
1-98058899-C-T DPYD c.1003G>A p.Val335Met Missense 10/23 -
16-16101842-C-T ABCC1 c.218C>T p.Thr73Ile Missense 2/31 -
4-69533784-A-G UGT2B15 c.847T>C p.Cys283Arg Missense 2/6 -
12-21392092-C-T SLCO1B1 c.2045C>T p.Ser682Phe Missense 15/15 -
2-234545934-G-A UGT1A10 c.766G>A p.Asp256Asn Missense 1/5 -
10-96540331-G-C CYP2C19 c.557G>C p.Arg186Pro Missense 4/9 -
22-42523943-A-G CYP2D6 c.886T>C p.Cys296Arg Missense 6/9 -
22-42525035-C-G CYP2D6 c.505G>C p.Gly169Arg Missense 3/9 -
4-89016698-A-T ABCG2 c.1711T>A p.Phe571Ile Missense 14/16 -
8-18258272-C-T NAT2 c.759C>T p.Val253Val Synonymous 2/2 -
11-62763264-T-A SLC22A8 c.913A>T p.Ile305Phe Missense 7/11 -
2-234627616-G-A UGT1A4 c.150G>A p.Glu50Glu Synonymous 1/5 -
2-234627616-G-C UGT1A4 c.150G>C p.Glu50Asp Missense 1/5 -
2-234669607-T-G UGT1A1 c.674T>G p.Val225Gly Missense 1/5 -
8-18079653-C-T NAT1 c.97C>T p.Arg33* Nonsense 3/3 -
19-41518598-T-A CYP2B6 c.1172T>A p.Ile391Asn Missense 8/9 -
7-99358524-A-G CYP3A4 c.1331T>C p.Met444Thr Missense 12/13 -
2-234638005-C-T UGT1A4 c.867+9672C>T - IntronicSNV - 1/4
3-119534659-C-A NR1I2 c.1141C>A p.Arg381Arg Synonymous 8/9 -
22-42522660-A-G CYP2D6 c.1410T>C p.Thr470Thr Synonymous 9/9 -
2-234545425-A-T UGT1A10 c.257A>T p.Gln86Leu Missense 1/5 -
15-75044552-G-A CYP1A2 c.1130G>A p.Arg377Gln Missense 5/7 -
2-234668870-G-C UGT1A4 c.868-6810G>C - IntronicSNV - 1/4
2-234580678-T-A UGT1A10 c.855+34655T>A - IntronicSNV - 1/4
2-234545520-G-A UGT1A10 c.352G>A p.Asp118Asn Missense 1/5 -
4-69693162-T-C UGT2B10 c.1203T>C p.Asn401Asn Synonymous 5/6 -
12-21358855-A-C SLCO1B1 c.1385A>C p.Asp462Ala Missense 11/15 -
19-41512873-T-G CYP2B6 c.548T>G p.Val183Gly Missense 4/9 -
2-234627616-G-T UGT1A4 c.150G>T p.Glu50Asp Missense 1/5 -
12-21355598-G-A SLCO1B1 c.1309G>A p.Gly437Arg Missense 10/15 -
9-86894964-C-T SLC28A3 c.1754G>A p.Arg585His Missense 17/19 -
9-86905172-C-T SLC28A3 c.1046G>A p.Arg349Gln Missense 12/19 -
12-21453351-T-C SLCO1A2 c.841A>G p.Ile281Val Missense 7/14 -
15-75012235-A-G CYP1A1 c.*595T>C - 3-UTRSNV 7/7 -
19-41354629-C-G CYP2A6 c.383G>C p.Arg128Pro Missense 3/9 -
19-41354629-C-A CYP2A6 c.383G>T p.Arg128Leu Missense 3/9 -
4-70160299-A-G UGT2B28 c.1362A>G p.Val454Val Synonymous 6/6 -
15-75042637-C-T CYP1A2 c.558C>T p.Phe186Phe Synonymous 2/7 -
15-75042637-C-A CYP1A2 c.558C>A p.Phe186Leu Missense 2/7 -
2-234581306-T-G UGT1A10 c.855+35283T>G - IntronicSNV - 1/4
7-75614497-G-C POR c.1370G>C p.Arg457Pro Missense 12/16 -
7-75614497-G-A POR c.1370G>A p.Arg457His Missense 12/16 -
7-87179809-C-T ABCB1 c.1199G>A p.Ser400Asn Missense 12/29 -
7-87179809-C-A ABCB1 c.1199G>T p.Ser400Ile Missense 12/29 -
10-101544447-A-T ABCC2 c.116A>T p.Tyr39Phe Missense 2/32 -
6-18143901-C-A TPMT c.292G>T p.Glu98* Nonsense 4/9 -
22-42525811-T-A CYP2D6 c.281A>T p.His94Leu Missense 2/9 -
19-41354533-A-T CYP2A6 c.479T>A p.Leu160His Missense 3/9 -
10-96522517-A-C CYP2C19 c.55A>C p.Ile19Leu Missense 1/9 -
8-70744812-G-A SLCO5A1 c.97C>T p.Leu33Phe Missense 2/10 -
3-121648168-G-A SLC15A2 c.1526G>A p.Arg509Lys Missense 17/22 -
10-96741058-C-G CYP2C9 c.1080C>G p.Asp360Glu Missense 7/9 -
2-234590975-G-C UGT1A10 c.855+44952G>C - IntronicSNV - 1/4
6-160557260-C-T SLC22A1 c.848C>T p.Pro283Leu Missense 5/11 -
22-44239499-T-C SULT4A1 c.170-1687A>G - IntronicSNV - 1/6
22-44239499-T-A SULT4A1 c.170-1687A>T - IntronicSNV - 1/6
2-234627992-A-T UGT1A4 c.526A>T p.Ile176Phe Missense 1/5 -
2-234627992-A-C UGT1A4 c.526A>C p.Ile176Leu Missense 1/5 -
19-41515255-C-T CYP2B6 c.777C>T p.Ser259Ser Synonymous 5/9 -
7-87138659-A-T ABCB1 c.3421T>A p.Ser1141Thr Missense 27/29 -
2-234590975-G-A UGT1A10 c.855+44952G>A - IntronicSNV - 1/4
10-101590120-G-C ABCC2 c.2677G>C p.Glu893Gln Missense 20/32 -
12-21329761-G-A SLCO1B1 c.411G>A p.Ser137Ser Synonymous 5/15 -
10-101590120-G-A ABCC2 c.2677G>A p.Glu893Lys Missense 20/32 -
19-41354660-A-G CYP2A6 c.352T>C p.Phe118Leu Missense 3/9 -
4-89015781-T-A ABCG2 c.1768A>T p.Asn590Tyr Missense 15/16 -
10-96798749-T-C CYP2C8 c.1196A>G p.Lys399Arg Missense 8/9 -
1-171076966-G-A FMO3 c.472G>A p.Glu158Lys Missense 4/9 -
2-234591411-C-A UGT1A10 c.855+45388C>A - IntronicSNV - 1/4
2-234591411-C-G UGT1A10 c.855+45388C>G - IntronicSNV - 1/4
10-106027059-G-A GSTO1 c.622G>A p.Glu208Lys Missense 6/6 -
2-234526719-G-A UGT1A8 c.366G>A p.Ser122Ser Synonymous 1/5 -
2-234638114-G-A UGT1A4 c.867+9781G>A - IntronicSNV - 1/4
6-160645751-G-A SLC22A2 c.1587C>T p.Ala529Ala Synonymous 10/11 -
1-98058782-G-A DPYD c.1120C>T p.Pro374Ser Missense 10/23 -
8-18258091-C-T NAT2 c.578C>T p.Thr193Met Missense 2/2 -
2-234621787-C-G UGT1A10 c.856-53893C>G - IntronicSNV - 1/4
2-234580678-T-C UGT1A9 c.98T>C p.Met33Thr Missense 1/5 -
7-99358459-G-C CYP3A4 c.1396C>G p.Pro466Ala Missense 12/13 -
10-101544387-C-T ABCC2 c.56C>T p.Pro19Leu Missense 2/32 -
12-21327529-T-C SLCO1B1 c.245T>C p.Val82Ala Missense 4/15 -
10-101591737-T-A ABCC2 c.3107T>A p.Ile1036Lys Missense 23/32 -
4-89013496-C-T ABCG2 c.1858G>A p.Asp620Asn Missense 16/16 -
6-160543229-T-A SLC22A1 c.262T>A p.Cys88Ser Missense 1/11 -
2-234526636-G-A UGT1A8 c.283G>A p.Asp95Asn Missense 1/5 -
2-234526636-G-C UGT1A8 c.283G>C p.Asp95His Missense 1/5 -
16-16103682-C-G ABCC1 c.275C>G p.Ser92Cys Missense 3/31 -
16-16103682-C-T ABCC1 c.275C>T p.Ser92Phe Missense 3/31 -
10-101591737-T-C ABCC2 c.3107T>C p.Ile1036Thr Missense 23/32 -
11-62768242-G-T SLC22A8 c.387C>A p.Phe129Leu Missense 3/11 -
4-69416556-T-C UGT2B17 c.1152A>G p.Ala384Ala Synonymous 5/6 -
4-69520851-G-A UGT2B15 c.1055C>T p.Thr352Ile Missense 4/6 -
17-19616017-G-A SLC47A2 c.485C>T p.Pro162Leu Missense 5/17 -
2-234621986-A-C UGT1A10 c.856-53694A>C - IntronicSNV - 1/4
2-234621986-A-T UGT1A10 c.856-53694A>T - IntronicSNV - 1/4
6-110759924-T-A SLC22A16 c.1310A>T p.Gln437Leu Missense 5/8 -
11-62749344-G-C SLC22A6 c.767C>G p.Ala256Gly Missense 4/10 -
4-69535704-C-T UGT2B15 c.633G>A p.Arg211Arg Synonymous 1/6 -
5-131705715-C-G SLC22A5 c.51C>G p.Phe17Leu Missense 1/10 -
10-96602636-G-A CYP2C19 c.1004G>A p.Arg335Gln Missense 7/9 -
17-19452968-C-T SLC47A1 c.476C>T p.Thr159Met Missense 5/17 -
10-96818106-T-A CYP2C8 c.805A>T p.Ile269Phe Missense 5/9 -
15-75013804-C-A CYP1A1 c.993G>T p.Met331Ile Missense 4/7 -
7-99367788-C-T CYP3A4 c.389G>A p.Arg130Gln Missense 5/13 -
7-99367788-C-G CYP3A4 c.389G>C p.Arg130Pro Missense 5/13 -
19-41349874-T-A CYP2A6 c.1312A>T p.Asn438Tyr Missense 9/9 -
7-75615304-A-G POR c.1733A>G p.Tyr578Cys Missense 14/16 -
4-70152499-T-A UGT2B28 c.900T>A p.Gly300Gly Synonymous 3/6 -
6-160560824-G-A SLC22A1 c.1201G>A p.Gly401Ser Missense 7/11 -
13-95735520-C-A ABCC4 c.2560G>T p.Val854Phe Missense 21/31 -
1-171083232-G-A FMO3 c.913G>A p.Glu305Lys Missense 7/9 -
7-99359829-G-A CYP3A4 c.1085C>T p.Thr362Met Missense 11/13 -
7-99359829-G-T CYP3A4 c.1085C>A p.Thr362Lys Missense 11/13 -
4-70350950-A-G UGT2B4 c.1286T>C p.Leu429Pro Missense 5/6 -
22-42524936-AAAGGGGCG-AAAGGGGCGAAAGGGGCG CYP2D6 c.514_522dup - SpliceAcceptorInsertion 4/9 -
2-169830328-A-T ABCB11 c.1331T>A p.Val444Asp Missense 13/28 -
12-21355583-A-T SLCO1B1 c.1294A>T p.Asn432Tyr Missense 10/15 -
6-18134076-T-A TPMT c.539A>T p.Tyr180Phe Missense 7/9 -
6-18134076-T-C TPMT c.539A>G p.Tyr180Cys Missense 7/9 -
8-18080308-A-T NAT1 c.752A>T p.Asp251Val Missense 3/3 -
3-38357961-C-G SLC22A14 c.1679C>G p.Pro560Arg Missense 9/10 -
3-38357961-C-A SLC22A14 c.1679C>A p.Pro560Gln Missense 9/10 -
2-234601928-C-T UGT1A10 c.855+55905C>T - IntronicSNV - 1/4
2-169830328-A-C ABCB11 c.1331T>G p.Val444Gly Missense 13/28 -
8-18257985-A-C NAT2 c.472A>C p.Ile158Leu Missense 2/2 -
12-21355583-A-G SLCO1B1 c.1294A>G p.Asn432Asp Missense 10/15 -
1-171086490-G-C FMO3 c.1507G>C p.Gly503Arg Missense 9/9 -
6-18148082-G-A TPMT c.205C>T p.Leu69Phe Missense 3/9 -
6-18148082-G-C TPMT c.205C>G p.Leu69Val Missense 3/9 -
19-41352941-A-G CYP2A6 c.670T>C p.Ser224Pro Missense 5/9 -
1-171077339-G-GT FMO3 c.604_605insT p.Glu202Valfs*52 Frameshift 5/9 -
13-95726518-C-G ABCC4 c.2867G>C p.Cys956Ser Missense 23/31 -
8-18258316-G-A NAT2 c.803G>A p.Arg268Lys Missense 2/2 -
7-99365983-A-G CYP3A4 c.664T>C p.Ser222Pro Missense 7/13 -
7-99365983-A-T CYP3A4 c.664T>A p.Ser222Thr Missense 7/13 -
2-234638249-A-G UGT1A4 c.867+9916A>G - IntronicSNV - 1/4
13-99358401-C-G SLC15A1 c.1256G>C p.Gly419Ala Missense 16/23 -
8-18258316-G-T NAT2 c.803G>T p.Arg268Ile Missense 2/2 -
15-75012979-G-A CYP1A1 c.1390C>T p.Arg464Cys Missense 7/7 -
19-41497295-C-A CYP2B6 c.85C>A p.Arg29Ser Missense 1/9 -
19-41497295-C-T CYP2B6 c.85C>T p.Arg29Cys Missense 1/9 -
2-234591000-G-C UGT1A7 c.417G>C p.Glu139Asp Missense 1/5 -
10-96707539-C-T CYP2C9 c.485C>T p.Ser162Leu Missense 4/9 -
3-121647286-C-T SLC15A2 c.1225C>T p.Pro409Ser Missense 15/22 -
2-169780295-C-T ABCB11 c.3803G>A p.Arg1268Gln Missense 28/28 -
7-75612866-G-C POR c.859G>C p.Ala287Pro Missense 9/16 -
2-234627508-A-G UGT1A4 c.42A>G p.Thr14Thr Synonymous 1/5 -
10-96740958-T-C CYP2C9 c.980T>C p.Ile327Thr Missense 7/9 -
16-16177275-G-A ABCC1 c.2168G>A p.Arg723Gln Missense 17/31 -
15-75013804-C-T CYP1A1 c.993G>A p.Met331Ile Missense 4/7 -
4-70361348-G-T UGT2B4 c.232C>A p.Pro78Thr Missense 1/6 -
2-234627937-T-G UGT1A4 c.471T>G p.Cys157Trp Missense 1/5 -
6-160575837-G-C SLC22A1 c.1393G>C p.Gly465Arg Missense 9/11 -
6-160575837-G-A SLC22A1 c.1393G>A p.Gly465Arg Missense 9/11 -
2-234665782-G-A UGT1A4 c.868-9898G>A - IntronicSNV - 1/4
16-16130340-G-A ABCC1 c.689G>A p.Arg230Gln Missense 7/31 -
16-16130340-G-C ABCC1 c.689G>C p.Arg230Pro Missense 7/31 -
22-42525781-A-G CYP2D6 c.311T>C p.Val104Ala Missense 2/9 -
22-42525781-A-T CYP2D6 c.311T>A p.Val104Glu Missense 2/9 -
2-108910712-A-G SULT1C2 c.179A>G p.Asp60Gly Missense 3/9 -
9-107558403-G-A ABCA1 c.5313C>T p.Thr1771Thr Synonymous 39/50 -
12-21331625-C-T SLCO1B1 c.597C>T p.Phe199Phe Synonymous 6/15 -
1-171076936-G-T FMO3 c.442G>T p.Gly148* Nonsense 4/9 -
15-75012894-G-C CYP1A1 c.1475C>G p.Pro492Arg Missense 7/7 -
11-62749434-A-G SLC22A6 c.677T>C p.Ile226Thr Missense 4/10 -
4-69972949-C-G UGT2B7 c.1059C>G p.Leu353Leu Synonymous 4/6 -
2-234637905-C-T UGT1A3 c.133C>T p.Arg45Trp Missense 1/5 -
11-62763607-A-C SLC22A8 c.779T>G p.Ile260Arg Missense 6/11 -
16-28603655-T-G SULT1A2 c.704A>C p.Asn235Thr Missense 7/8 -
19-41497346-A-T CYP2B6 c.136A>T p.Met46Leu Missense 1/9 -
4-89034649-C-A ABCG2 c.1000G>T p.Glu334* Nonsense 9/16 -
14-70245977-A-G SLC10A1 c.668T>C p.Ile223Thr Missense 3/5 -
12-21036418-G-A SLCO1B3 c.1564G>A p.Gly522Ser Missense 13/16 -
6-160668283-G-C SLC22A2 c.890C>G p.Ala297Gly Missense 5/11 -
3-38317479-C-T SLC22A13 c.1129C>T p.Arg377Cys Missense 7/10 -
12-21036418-G-T SLCO1B3 c.1564G>T p.Gly522Cys Missense 13/16 -
7-99366081-A-G CYP3A4 c.566T>C p.Phe189Ser Missense 7/13 -
2-234622359-G-C UGT1A10 c.856-53321G>C - IntronicSNV - 1/4
3-38357961-C-T SLC22A14 c.1679C>T p.Pro560Leu Missense 9/10 -
22-44248504-G-A SULT4A1 c.169+9590C>T - IntronicSNV - 1/6
2-234590616-C-T UGT1A10 c.855+44593C>T - IntronicSNV - 1/4
3-121615316-C-T SLC15A2 c.169C>T p.Arg57Cys Missense 2/22 -
11-74907582-C-T SLCO2B1 c.1457C>T p.Ser486Phe Missense 10/14 -
1-98039499-C-A DPYD c.1156G>T p.Glu386* Nonsense 11/23 -
22-51063758-C-T ARSA c.1345G>A p.Gly449Arg Missense 8/8 -
10-101604163-C-T ABCC2 c.3928C>T p.Arg1310* Nonsense 28/32 -
7-99381661-A-G CYP3A4 c.44T>C p.Leu15Pro Missense 1/13 -
2-234526668-G-A UGT1A8 c.315G>A p.Leu105Leu Synonymous 1/5 -
7-75615301-T-C POR c.1730T>C p.Leu577Pro Missense 14/16 -
4-69692163-C-A UGT2B10 c.1035C>A p.Ala345Ala Synonymous 4/6 -
19-41354629-C-T CYP2A6 c.383G>A p.Arg128Gln Missense 3/9 -
2-234526666-T-A UGT1A8 c.313T>A p.Leu105Met Missense 1/5 -
4-69692163-C-G UGT2B10 c.1035C>G p.Ala345Ala Synonymous 4/6 -
12-21459854-T-A SLCO1A2 c.404A>T p.Asn135Ile Missense 4/14 -
19-41512841-G-A CYP2B6 c.516G>A p.Gln172Gln Synonymous 4/9 -
2-234545773-C-T UGT1A10 c.605C>T p.Thr202Ile Missense 1/5 -
2-234545928-C-T UGT1A10 c.760C>T p.Arg254* Nonsense 1/5 -
4-69962452-C-T UGT2B7 c.214C>T p.Leu72Phe Missense 1/6 -
10-96602710-G-A CYP2C19 c.1078G>A p.Asp360Asn Missense 7/9 -
10-96602710-G-C CYP2C19 c.1078G>C p.Asp360His Missense 7/9 -
2-234527183-G-A UGT1A8 c.830G>A p.Cys277Tyr Missense 1/5 -
7-87230193-A-G ABCB1 c.-129T>C - 5_prime_UTR_variant 2/29 -
7-75615301-T-G POR c.1730T>G p.Leu577Arg Missense 14/16 -
16-16165572-G-A ABCC1 c.1898G>A p.Arg633Gln Missense 14/31 -
1-97544543-G-C DPYD c.3067C>G p.Pro1023Ala Missense 23/23 -
1-97544543-G-A DPYD c.3067C>T p.Pro1023Ser Missense 23/23 -
4-69962452-C-G UGT2B7 c.214C>G p.Leu72Val Missense 1/6 -
10-96602710-G-T CYP2C19 c.1078G>T p.Asp360Tyr Missense 7/9 -
12-21325668-C-T SLCO1B1 c.169C>T p.Arg57Trp Missense 3/15 -
10-96805708-C-A CYP2C8 c.820G>T p.Glu274* Nonsense 6/9 -
7-75615006-C-T POR c.1508C>T p.Ala503Val Missense 13/16 -
3-119526203-G-A NR1I2 c.106G>A p.Gly36Arg Missense 2/9 -
2-234545932-C-T UGT1A10 c.764C>T p.Thr255Met Missense 1/5 -
15-75012985-T-C CYP1A1 c.1384A>G p.Ile462Val Missense 7/7 -
15-75012985-T-A CYP1A1 c.1384A>T p.Ile462Phe Missense 7/7 -
15-75012985-T-G CYP1A1 c.1384A>C p.Ile462Leu Missense 7/7 -
2-234602191-A-G UGT1A10 c.855+56168A>G - IntronicSNV - 1/4
22-42523858-T-G CYP2D6 c.971A>C p.His324Pro Missense 6/9 -
2-234622067-A-G UGT1A10 c.856-53613A>G - IntronicSNV - 1/4
2-234526827-C-T UGT1A8 c.474C>T p.Ala158Ala Synonymous 1/5 -
1-97981421-C-T DPYD c.1601G>A p.Ser534Asn Missense 13/23 -
19-41384786-G-C CYP2A7 c.557C>G p.Ala186Gly Missense 4/8 -
12-21329817-A-G SLCO1B1 c.467A>G p.Glu156Gly Missense 5/15 -
2-169783827-G-C ABCB11 c.3457C>G p.Arg1153Gly Missense 26/28 -
2-234545476-A-G UGT1A10 c.308A>G p.Gln103Arg Missense 1/5 -
2-234681059-T-C UGT1A1 c.1456T>C p.Tyr486His Missense 5/5 -
9-107589255-C-T ABCA1 c.2311G>A p.Val771Met Missense 16/50 -
2-169828550-T-C ABCB11 c.1445A>G p.Asp482Gly Missense 14/28 -
15-75042581-G-C CYP1A2 c.502G>C p.Glu168Gln Missense 2/7 -
10-96745830-A-C CYP2C9 c.1190A>C p.Asp397Ala Missense 8/9 -
9-107589255-C-G ABCA1 c.2311G>C p.Val771Leu Missense 16/50 -
8-18080001-G-A NAT1 c.445G>A p.Val149Ile Missense 3/3 -
19-41350582-C-G CYP2A6 c.1257G>C p.Glu419Asp Missense 8/9 -
4-69973936-C-T UGT2B7 c.1206C>T p.Asn402Asn Synonymous 5/6 -
19-41497293-A-G CYP2B6 c.83A>G p.Asp28Gly Missense 1/9 -
15-75012837-C-A CYP1A1 c.1532G>T p.Arg511Leu Missense 7/7 -
3-119500035-C-T NR1I2 c.-1135C>T - 5_prime_UTR_variant 1/9 -
2-234621850-A-G UGT1A10 c.856-53830A>G - IntronicSNV - 1/4
8-143994266-A-C CYP11B2 c.1157T>G p.Val386Gly Missense 7/9 -
7-75609780-G-T POR c.490G>T p.Val164Leu Missense 5/16 -
4-70346564-G-C UGT2B4 c.1375C>G p.Arg459Gly Missense 6/6 -
4-69978370-A-G UGT2B7 c.1506A>G p.Ala502Ala Synonymous 6/6 -
2-234637912-T-C UGT1A4 c.867+9579T>C - IntronicSNV - 1/4
12-21457434-T-G SLCO1A2 c.516A>C p.Glu172Asp Missense 5/14 -
6-160575907-G-T SLC22A1 c.1463G>T p.Arg488Met Missense 9/11 -
6-160575907-G-C SLC22A1 c.1463G>C p.Arg488Thr Missense 9/11 -
2-234527064-A-G UGT1A8 c.711A>G p.Thr237Thr Synonymous 1/5 -
10-96709037-A-G CYP2C9 c.815A>G p.Glu272Gly Missense 5/9 -
15-75012837-C-T CYP1A1 c.1532G>A p.Arg511His Missense 7/7 -
11-62767307-G-T SLC22A8 c.445C>A p.Arg149Ser Missense 4/11 -
11-62767307-G-A SLC22A8 c.445C>T p.Arg149Cys Missense 4/11 -
8-143994266-A-G CYP11B2 c.1157T>C p.Val386Ala Missense 7/9 -
6-18139920-C-T TPMT c.395G>A p.Cys132Tyr Missense 5/9 -
12-21331599-T-C SLCO1B1 c.571T>C p.Leu191Leu Synonymous 6/15 -
4-70346564-G-T UGT2B4 c.1375C>A p.Arg459Arg Synonymous 6/6 -
17-19451364-C-T SLC47A1 c.373C>T p.Leu125Phe Missense 4/17 -
4-70146719-G-A UGT2B28 c.501G>A p.Pro167Pro Synonymous 1/6 -
4-70146719-G-T UGT2B28 c.501G>T p.Pro167Pro Synonymous 1/6 -
4-70146719-G-C UGT2B28 c.501G>C p.Pro167Pro Synonymous 1/6 -
22-42523843-C-G CYP2D6 c.985+1G>C - IntronicSNV - 6/8
3-119530497-G-A NR1I2 c.443G>A p.Arg148Gln Missense 4/9 -
22-42523843-C-T CYP2D6 c.985+1G>A - IntronicSNV - 6/8
2-234527001-A-C UGT1A8 c.648A>C p.Glu216Asp Missense 1/5 -
10-101595975-G-A ABCC2 c.3542G>A p.Arg1181Gln Missense 25/32 -
2-234527001-A-G UGT1A8 c.648A>G p.Glu216Glu Synonymous 1/5 -
4-70359452-C-A UGT2B4 c.829G>T p.Val277Phe Missense 2/6 -
4-70359452-C-T UGT2B4 c.829G>A p.Val277Ile Missense 2/6 -
4-70359452-C-G UGT2B4 c.829G>C p.Val277Leu Missense 2/6 -
10-101591541-G-C ABCC2 c.3057G>C p.Gln1019His Missense 22/32 -
10-101591541-G-A ABCC2 c.3057G>A p.Gln1019Gln Synonymous 22/32 -
2-234681059-T-G UGT1A3 c.1459T>G p.Tyr487Asp Missense 5/5 -
2-234681059-T-A UGT1A1 c.1456T>A p.Tyr486Asn Missense 5/5 -
15-75045575-G-A CYP1A2 c.1217G>A p.Cys406Tyr Missense 6/7 -
19-41354621-A-C CYP2A6 c.391T>G p.Ser131Ala Missense 3/9 -
8-18257583-T-A NAT2 c.70T>A p.Leu24Ile Missense 2/2 -
1-171083479-G-A FMO3 c.1160G>A p.Arg387His Missense 7/9 -
2-234580805-G-A UGT1A10 c.855+34782G>A - IntronicSNV - 1/4
6-18149357-A-C TPMT c.2T>G p.Met1Arg Missense 2/9 -
6-18149357-A-G TPMT c.2T>C p.Met1Thr Missense 2/9 -
2-234676573-G-A UGT1A1 c.1075G>A p.Asp359Asn Missense 3/5 -
22-42523855-G-A CYP2D6 c.974C>T p.Pro325Leu Missense 6/9 -
8-18080440-A-C NAT1 c.*11A>C - 3-UTRSNV 3/3 -
19-48377980-T-G SULT2A1 c.679A>C p.Lys227Gln Missense 5/6 -
2-234591114-T-A UGT1A7 c.531T>A p.Leu177Leu Synonymous 1/5 -
8-18079577-T-G NAT1 c.21T>G p.Leu7Leu Synonymous 3/3 -
2-234590970-T-A UGT1A7 c.387T>A p.Asn129Lys Missense 1/5 -
22-42522916-C-G CYP2D6 c.1252G>C p.Glu418Gln Missense 8/9 -
2-234527157-T-C UGT1A8 c.804T>C p.Asn268Asn Synonymous 1/5 -
2-234545225-C-T UGT1A10 c.57C>T p.Thr19Thr Synonymous 1/5 -
3-119530542-A-G NR1I2 c.488A>G p.Asp163Gly Missense 4/9 -
2-234527071-A-G UGT1A8 c.718A>G p.Thr240Ala Missense 1/5 -
22-42525089-G-C CYP2D6 c.451C>G p.Gln151Glu Missense 3/9 -
2-234590751-C-T UGT1A10 c.855+44728C>T - IntronicSNV - 1/4
1-171086490-G-A FMO3 c.1507G>A p.Gly503Arg Missense 9/9 -
2-234676965-G-C UGT1A7 c.1175G>C p.Gly392Ala Missense 4/5 -
2-234545517-C-A UGT1A10 c.349C>A p.Leu117Ile Missense 1/5 -
22-42522613-G-C CYP2D6 c.1457C>G p.Thr486Ser Missense 9/9 -
2-234675806-C-T UGT1A1 c.991C>T p.Gln331* Nonsense 2/5 -
2-234526719-G-T UGT1A8 c.366G>T p.Ser122Ser Synonymous 1/5 -
1-98058782-G-C DPYD c.1120C>G p.Pro374Ala Missense 10/23 -
6-160679655-G-GT SLC22A2 c.134_135insA p.Phe45Leufs*4 Frameshift 1/11 -
7-75610420-G-A POR c.571G>A p.Val191Met Missense 6/16 -
7-75610420-G-C POR c.571G>C p.Val191Leu Missense 6/16 -
4-70160342-T-C UGT2B28 c.1405T>C p.Cys469Arg Missense 6/6 -
6-18139201-G-T TPMT c.487C>A p.Arg163Ser Missense 6/9 -
19-41497346-A-G CYP2B6 c.136A>G p.Met46Val Missense 1/9 -
4-69536084-A-C UGT2B15 c.253T>G p.Tyr85Asp Missense 1/6 -
15-45554267-C-A SLC28A2 c.225C>A p.Ser75Arg Missense 4/18 -
15-75042142-C-G CYP1A2 c.63C>G p.Phe21Leu Missense 2/7 -
6-160543090-C-T SLC22A1 c.123C>T p.Phe41Phe Synonymous 1/11 -
19-41352912-T-C CYP2A6 c.699A>G p.Pro233Pro Synonymous 5/9 -
10-96535296-G-A CYP2C19 c.481G>A p.Ala161Thr Missense 3/9 -
10-96535296-G-C CYP2C19 c.481G>C p.Ala161Pro Missense 3/9 -
12-21392011-A-G SLCO1B1 c.1964A>G p.Asp655Gly Missense 15/15 -
10-101578683-T-C ABCC2 c.2408T>C p.Val803Ala Missense 18/32 -
2-234627861-T-C UGT1A4 c.395T>C p.Leu132Pro Missense 1/5 -
6-18139201-G-A TPMT c.487C>T p.Arg163Cys Missense 6/9 -
2-219674482-G-A CYP27A1 c.438G>A p.Pro146Pro Synonymous 2/9 -
10-96702011-C-T CYP2C9 c.394C>T p.Arg132Trp Missense 3/9 -
2-234545928-C-A UGT1A10 c.760C>A p.Arg254Arg Synonymous 1/5 -
15-75013094-A-AA CYP1A1 c.1275_1275dup p.Glu426*fs*1 Nonsense 7/7 -
10-101563815-G-A ABCC2 c.1249G>A p.Val417Ile Missense 10/32 -
10-96702006-C-A CYP2C9 c.389C>A p.Thr130Lys Missense 3/9 -
4-100260789-T-A ADH1C c.1048A>T p.Ile350Phe Missense 8/9 -
10-96702006-C-T CYP2C9 c.389C>T p.Thr130Met Missense 3/9 -
4-100260789-T-C ADH1C c.1048A>G p.Ile350Val Missense 8/9 -
2-234627914-T-C UGT1A4 c.448T>C p.Leu150Leu Synonymous 1/5 -
11-62782278-C-T SLC22A8 c.153G>A p.Pro51Pro Synonymous 2/11 -
2-234527064-A-C UGT1A8 c.711A>C p.Thr237Thr Synonymous 1/5 -
2-234638580-A-G UGT1A4 c.867+10247A>G - IntronicSNV - 1/4
12-21329802-A-G SLCO1B1 c.452A>G p.Asn151Ser Missense 5/15 -
4-69535828-A-G UGT2B15 c.509T>C p.Leu170Pro Missense 1/6 -
10-101578577-C-T ABCC2 c.2302C>T p.Arg768Trp Missense 18/32 -
10-101578577-C-A ABCC2 c.2302C>A p.Arg768Arg Synonymous 18/32 -
22-42525821-G-T CYP2D6 c.271C>A p.Leu91Met Missense 2/9 -
15-75044578-A-G CYP1A2 c.1156A>G p.Ile386Val Missense 5/7 -
10-96612671-A-T CYP2C19 c.1473A>T - Missense 9/9 -
2-234590751-C-G UGT1A10 c.855+44728C>G - IntronicSNV - 1/4
22-42525838-G-A CYP2D6 c.254C>T p.Ala85Val Missense 2/9 -
19-41510282-A-G CYP2B6 c.415A>G p.Lys139Glu Missense 3/9 -
4-70723268-G-A SULT1E1 c.95C>T p.Ala32Val Missense 2/8 -
12-21450445-A-G SLCO1A2 c.968T>C p.Leu323Pro Missense 8/14 -
5-131647954-A-G SLC22A4 c.494A>G p.Asp165Gly Missense 2/10 -
19-41381683-G-T CYP2A7 c.1247C>A p.Ser416* Nonsense 8/8 -
4-70361342-A-G UGT2B4 c.238T>C p.Ser80Pro Missense 1/6 -
2-234627483-A-G UGT1A4 c.17A>G p.Gln6Arg Missense 1/5 -