Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
19-41524153-T-C | CYP2B6 | c.*1421T>C | - | 3-UTRSNV | 9/9 | - |
6-110778128-T-C | SLC22A16 | c.146A>G | p.His49Arg | Missense | 2/8 | - |
14-96671139-C-T | BDKRB2 | c.-192C>T | - | 5_prime_UTR_variant | 1/3 | - |
19-45854919-T-A | ERCC2 | c.2251A>T | p.Lys751* | Nonsense | 23/23 | - |
17-61565990-G-C | ACE | c.2306-19G>C | - | IntronicSNV | - | 15/24 |
12-21382619-T-C | SLCO1B1 | c.1865+4846T>C | - | IntronicSNV | - | 14/14 |
3-165548010-G-A | BCHE | c.812C>T | p.Thr271Met | Missense | 2/4 | - |
16-16236004-T-A | ABCC1 | c.*866T>A | - | 3-UTRSNV | 31/31 | - |
6-31778272-G-T | HSPA1L | c.1478C>A | p.Thr493Lys | Missense | 2/2 | - |
10-96707539-C-T | CYP2C9 | c.485C>T | p.Ser162Leu | Missense | 4/9 | - |
7-99264573-A-G | CYP3A5 | c.432+2T>C | - | IntronicSNV | - | 5/12 |
7-99264573-A-T | CYP3A5 | c.432+2T>A | - | IntronicSNV | - | 5/12 |
15-75042637-C-A | CYP1A2 | c.558C>A | p.Phe186Leu | Missense | 2/7 | - |
19-11230829-G-C | LDLR | c.1907G>C | p.Gly636Ala | Missense | 13/18 | - |
11-74883577-G-A | SLCO2B1 | c.935G>A | p.Arg312Gln | Missense | 7/14 | - |
16-16213872-G-A | ABCC1 | c.3391-1960G>A | - | IntronicSNV | - | 23/30 |
7-150693989-C-T | NOS3 | c.558C>T | p.Gly186Gly | Synonymous | 5/27 | - |
13-95714976-C-T | ABCC4 | c.3348G>A | p.Lys1116Lys | Synonymous | 26/31 | - |
11-113803887-A-G | HTR3B | c.696+72A>G | - | IntronicSNV | - | 6/8 |
3-38648252-G-C | SCN5A | c.1048C>G | p.His350Asp | Missense | 9/28 | - |
6-160575837-G-C | SLC22A1 | c.1393G>C | p.Gly465Arg | Missense | 9/11 | - |
7-87153585-A-C | ABCB1 | c.2686-3393T>G | - | IntronicSNV | - | 22/28 |
7-87153585-A-G | ABCB1 | c.2686-3393T>C | - | IntronicSNV | - | 22/28 |
6-160575837-G-A | SLC22A1 | c.1393G>A | p.Gly465Arg | Missense | 9/11 | - |
13-47411985-A-G | HTR2A | c.614-2211T>C | - | IntronicSNV | - | 3/3 |
16-31104509-C-T | VKORC1 | c.283+124G>A | - | IntronicSNV | - | 2/2 |
16-31104509-C-G | VKORC1 | c.283+124G>C | - | IntronicSNV | - | 2/2 |
6-18139228-C-T | TPMT | c.460G>A | p.Ala154Thr | Missense | 6/9 | - |
2-234665782-G-A | UGT1A4 | c.868-9898G>A | - | IntronicSNV | - | 1/4 |
3-152554379-G-T | P2RY1 | c.808G>T | p.Ala270Ser | Missense | 1/1 | - |
6-160663420-T-G | SLC22A2 | c.1294A>C | p.Lys432Gln | Missense | 8/11 | - |
2-234526707-C-T | UGT1A8 | c.354C>T | p.Asn118Asn | Synonymous | 1/5 | - |
16-16119024-A-G | ABCC1 | c.616-7942A>G | - | IntronicSNV | - | 5/30 |
7-87169356-C-T | ABCB1 | c.2320-695G>A | - | IntronicSNV | - | 19/28 |
4-89078924-T-C | ABCG2 | c.-20+614A>G | - | intron_variant | - | 1/15 |
11-67353579-C-T | GSTP1 | c.341C>T | p.Ala114Val | Missense | 6/7 | - |
1-97700417-G-A | DPYD | c.2433C>T | p.Ser811Ser | Synonymous | 19/23 | - |
5-74651084-A-G | HMGCR | c.1722+45A>G | - | IntronicSNV | - | 13/19 |
10-96818106-T-A | CYP2C8 | c.805A>T | p.Ile269Phe | Missense | 5/9 | - |
10-96798749-T-C | CYP2C8 | c.1196A>G | p.Lys399Arg | Missense | 8/9 | - |
X-77243870-AC-TG | ATP7A | c.253_254delACinsTG | p.Thr85Cys | Missense | 3/23 | - |
10-101563815-G-A | ABCC2 | c.1249G>A | p.Val417Ile | Missense | 10/32 | - |
14-96729655-A-G | BDKRB1 | c.1-365A>G | - | IntronicSNV | - | 1/2 |
6-18134076-T-A | TPMT | c.539A>T | p.Tyr180Phe | Missense | 7/9 | - |
7-150671907-C-A | KCNH2 | c.199G>T | p.Asp67Tyr | Missense | 2/15 | - |
6-18134076-T-C | TPMT | c.539A>G | p.Tyr180Cys | Missense | 7/9 | - |
6-33753673-G-C | LEMD2 | c.777+838C>G | - | IntronicSNV | - | 2/8 |
7-99250394-A-AA | CYP3A5 | c.1035_1035dup | p.Thr346Tyrfs*3 | Frameshift | 11/13 | - |
8-18080308-A-T | NAT1 | c.752A>T | p.Asp251Val | Missense | 3/3 | - |
10-73772762-C-T | CHST3 | c.*4533C>T | - | 3-UTRSNV | 3/3 | - |
19-41497274-C-T | CYP2B6 | c.64C>T | p.Arg22Cys | Missense | 1/9 | - |
10-114808902-G-A | TCF7L2 | c.483+9017G>A | - | IntronicSNV | - | 4/13 |
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 | - |
1-97543959-C-T | DPYD | c.*573G>A | - | 3-UTRSNV | 23/23 | - |
8-63949912-G-A | GGH | c.109+1307C>T | - | IntronicSNV | - | 1/8 |
1-47279175-C-T | CYP4B1 | c.517C>T | p.Arg173Trp | Missense | 5/12 | - |
1-98165091-T-C | DPYD | c.496A>G | p.Met166Val | Missense | 6/23 | - |
X-77268502-G-C | ATP7A | c.2299G>C | p.Val767Leu | Missense | 10/23 | - |
10-114808902-G-T | TCF7L2 | c.483+9017G>T | - | IntronicSNV | - | 4/13 |
3-151057642-G-C | P2RY12 | c.-15+742C>G | - | intron_variant | - | 2/2 |
3-151057642-G-A | P2RY12 | c.-15+742C>T | - | intron_variant | - | 2/2 |
10-96707539-C-A | CYP2C9 | c.485C>A | p.Ser162* | Nonsense | 4/9 | - |
16-16177275-G-A | ABCC1 | c.2168G>A | p.Arg723Gln | Missense | 17/31 | - |
10-96534768-G-A | CYP2C19 | c.169-47G>A | - | IntronicSNV | - | 1/8 |
10-96534768-G-C | CYP2C19 | c.169-47G>C | - | IntronicSNV | - | 1/8 |
1-97981395-T-C | DPYD | c.1627A>G | p.Ile543Val | Missense | 13/23 | - |
2-234668570-C-T | UGT1A4 | c.868-7110C>T | - | IntronicSNV | - | 1/4 |
16-56996288-G-A | CETP | c.118+279G>A | - | IntronicSNV | - | 1/15 |
6-31777946-C-T | HSPA1L | c.1804G>A | p.Glu602Lys | Missense | 2/2 | - |
12-53344318-G-T | KRT18 | c.500+124G>T | - | IntronicSNV | - | 3/7 |
7-99366081-A-G | CYP3A4 | c.566T>C | p.Phe189Ser | Missense | 7/13 | - |
11-108239628-G-T | ATM | c.*3393G>T | - | 3-UTRSNV | 63/63 | - |
16-57007317-C-A | CETP | c.825C>A | p.Ser275Ser | Synonymous | 9/16 | - |
15-75044238-G-A | CYP1A2 | c.1042+43G>A | - | IntronicSNV | - | 4/6 |
3-119557851-A-T | GSK3B | c.1195+4251T>A | - | IntronicSNV | - | 10/10 |
16-16110891-G-A | ABCC1 | c.615+413G>A | - | IntronicSNV | - | 5/30 |
X-153761165-CT-TA | G6PD | c.1132_1133delAGinsTA | p.Arg378* | Nonsense | 9/13 | - |
3-38620907-G-T | SCN5A | c.3308C>A | p.Ser1103Tyr | Missense | 18/28 | - |
10-96745830-A-C | CYP2C9 | c.1190A>C | p.Asp397Ala | Missense | 8/9 | - |
16-31104878-G-C | VKORC1 | c.174-136C>G | - | IntronicSNV | - | 1/2 |
16-57007317-C-T | CETP | c.825C>T | p.Ser275Ser | Synonymous | 9/16 | - |
1-226026406-A-T | EPHX1 | c.416A>T | p.His139Leu | Missense | 4/9 | - |
2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
X-153771296-C-T | G6PD | c.210+2955G>A | - | IntronicSNV | - | 2/12 |
10-73772014-G-C | CHST3 | c.*3785G>C | - | 3-UTRSNV | 3/3 | - |
15-75042204-C-G | CYP1A2 | c.125C>G | p.Pro42Arg | Missense | 2/7 | - |
11-34460704-C-T | CAT | c.66+78C>T | - | IntronicSNV | - | 1/12 |
11-34460704-C-G | CAT | c.66+78C>G | - | IntronicSNV | - | 1/12 |
16-57007317-C-G | CETP | c.825C>G | p.Ser275Ser | Synonymous | 9/16 | - |
2-234681059-T-A | UGT1A1 | c.1456T>A | p.Tyr486Asn | Missense | 5/5 | - |
10-96540367-T-C | CYP2C19 | c.593T>C | p.Met198Thr | Missense | 4/9 | - |
16-31104878-G-A | VKORC1 | c.174-136C>T | - | IntronicSNV | - | 1/2 |
10-73772014-G-A | CHST3 | c.*3785G>A | - | 3-UTRSNV | 3/3 | - |
22-42523858-T-G | CYP2D6 | c.971A>C | p.His324Pro | Missense | 6/9 | - |
8-18257994-C-T | NAT2 | c.481C>T | p.Leu161Leu | Synonymous | 2/2 | - |
11-116703640-G-C | APOC3 | c.*40G>C | - | 3-UTRSNV | 4/4 | - |
10-96811045-G-C | CYP2C8 | c.820-5337C>G | - | IntronicSNV | - | 5/8 |
6-16318633-T-A | ATXN1 | c.1917+7992A>T | - | IntronicSNV | - | 8/8 |
1-97848140-G-T | DPYD | c.1906-123C>A | - | IntronicSNV | - | 14/22 |
6-18143955-C-G | TPMT | c.238G>C | p.Ala80Pro | Missense | 4/9 | - |
2-234669661-CT-TG | UGT1A1 | c.728_729delCTinsTG | p.Thr243Met | Missense | 1/5 | - |
13-47409034-G-A | HTR2A | c.1354C>T | p.His452Tyr | Missense | 4/4 | - |
3-165547569-C-G | BCHE | c.1253G>C | p.Gly418Ala | Missense | 2/4 | - |
8-18080196-T-G | NAT1 | c.640T>G | p.Ser214Ala | Missense | 3/3 | - |
3-165547569-C-T | BCHE | c.1253G>A | p.Gly418Asp | Missense | 2/4 | - |
15-75047169-C-T | CYP1A2 | c.1291C>T | p.Arg431Trp | Missense | 7/7 | - |
7-30716087-G-A | CRHR2 | c.310+5444C>T | - | IntronicSNV | - | 3/12 |
7-30716087-G-C | CRHR2 | c.310+5444C>G | - | IntronicSNV | - | 3/12 |
2-234681059-T-G | UGT1A1 | c.1456T>G | p.Tyr486Asp | Missense | 5/5 | - |
2-234681059-T-C | UGT1A1 | c.1456T>C | p.Tyr486His | Missense | 5/5 | - |
8-63951237-C-T | GGH | c.91G>A | p.Ala31Thr | Missense | 1/9 | - |
15-75045575-G-A | CYP1A2 | c.1217G>A | p.Cys406Tyr | Missense | 6/7 | - |
6-160677669-C-G | SLC22A2 | c.495G>C | p.Met165Ile | Missense | 2/11 | - |
6-160677669-C-T | SLC22A2 | c.495G>A | p.Met165Ile | Missense | 2/11 | - |
7-55229255-G-A | EGFR | c.1562G>A | p.Arg521Lys | Missense | 13/28 | - |
10-73769590-C-T | CHST3 | c.*1361C>T | - | 3-UTRSNV | 3/3 | - |
8-18080440-A-G | NAT1 | c.*11A>G | - | 3-UTRSNV | 3/3 | - |
9-4572480-T-G | SLC1A1 | c.767+92T>G | - | IntronicSNV | - | 7/11 |
2-234667937-G-A | UGT1A4 | c.868-7743G>A | - | IntronicSNV | - | 1/4 |
6-31778272-G-A | HSPA1L | c.1478C>T | p.Thr493Met | Missense | 2/2 | - |
6-31778272-G-C | HSPA1L | c.1478C>G | p.Thr493Arg | Missense | 2/2 | - |
7-55229255-G-T | EGFR | c.1562G>T | p.Arg521Met | Missense | 13/28 | - |
1-97770911-T-C | DPYD | c.2203A>G | p.Thr735Ala | Missense | 18/23 | - |
8-63951237-C-A | GGH | c.91G>T | p.Ala31Ser | Missense | 1/9 | - |
16-16110891-G-C | ABCC1 | c.615+413G>C | - | IntronicSNV | - | 5/30 |
7-150644394-C-A | KCNH2 | c.3152+22G>T | - | IntronicSNV | - | 13/14 |
10-96740981-C-T | CYP2C9 | c.1003C>T | p.Arg335Trp | Missense | 7/9 | - |
10-96522559-C-T | CYP2C19 | c.97C>T | p.Pro33Ser | Missense | 1/9 | - |
8-18080015-G-T | NAT1 | c.459G>T | p.Thr153Thr | Synonymous | 3/3 | - |
12-21329817-A-G | SLCO1B1 | c.467A>G | p.Glu156Gly | Missense | 5/15 | - |
8-18080015-G-A | NAT1 | c.459G>A | p.Thr153Thr | Synonymous | 3/3 | - |
8-18080015-G-C | NAT1 | c.459G>C | p.Thr153Thr | Synonymous | 3/3 | - |
10-73772014-G-T | CHST3 | c.*3785G>T | - | 3-UTRSNV | 3/3 | - |
7-87138758-A-G | ABCB1 | c.3322T>C | p.Trp1108Arg | Missense | 27/29 | - |
3-37070354-CG-AA | MLH1 | c.1489_1490delCGinsAA | p.Arg497Lys | Missense | 13/19 | - |
9-4572480-T-C | SLC1A1 | c.767+92T>C | - | IntronicSNV | - | 7/11 |
1-155279482-T-G | FDPS | c.1-99T>G | - | IntronicSNV | - | 1/10 |
12-21392011-A-G | SLCO1B1 | c.1964A>G | p.Asp655Gly | Missense | 15/15 | - |
12-6954875-C-T | GNB3 | c.825C>T | p.Ser275Ser | Synonymous | 9/10 | - |
3-186650790-A-G | ST6GAL1 | c.-325+2167A>G | - | intron_variant | - | 1/7 |
19-41510282-A-G | CYP2B6 | c.415A>G | p.Lys139Glu | Missense | 3/9 | - |
15-75041341-T-G | CYP1A2 | c.-10+103T>G | - | intron_variant | - | 1/6 |
22-37096927-T-C | CACNG2 | c.211+1484A>G | - | IntronicSNV | - | 1/3 |
7-87161520-T-C | ABCB1 | c.2482-707A>G | - | IntronicSNV | - | 21/28 |
10-96522463-A-T | CYP2C19 | c.1A>T | p.Met1Leu | Missense | 1/9 | - |
2-234676880-C-G | UGT1A1 | c.1099C>G | p.Arg367Gly | Missense | 4/5 | - |
13-103697728-G-A | SLC10A2 | c.*755C>T | - | 3-UTRSNV | 6/6 | - |
16-16086833-C-T | ABCC1 | c.49-14840C>T | - | IntronicSNV | - | 1/30 |
1-163040495-G-A | RGS4 | c.44+1177G>A | - | IntronicSNV | - | 1/4 |
1-163040495-G-T | RGS4 | c.44+1177G>T | - | IntronicSNV | - | 1/4 |
7-30726777-A-T | CRHR2 | c.184+2030T>A | - | IntronicSNV | - | 2/12 |
22-37097564-C-T | CACNG2 | c.211+847G>A | - | IntronicSNV | - | 1/3 |
12-21325716-T-C | SLCO1B1 | c.217T>C | p.Phe73Leu | Missense | 3/15 | - |
X-113965735-G-C | HTR2C | c.68G>C | p.Cys23Ser | Missense | 4/6 | - |
10-73771706-G-A | CHST3 | c.*3477G>A | - | 3-UTRSNV | 3/3 | - |
10-96797270-T-C | CYP2C8 | c.1292-204A>G | - | IntronicSNV | - | 8/8 |
5-148206885-C-T | ADRB2 | c.491C>T | p.Thr164Ile | Missense | 1/1 | - |
22-37097564-C-G | CACNG2 | c.211+847G>C | - | IntronicSNV | - | 1/3 |
22-19955692-C-A | COMT | c.616-367C>A | - | IntronicSNV | - | 5/5 |
3-186451236-T-C | KNG1 | c.930+773T>C | - | IntronicSNV | - | 7/9 |
3-186451236-T-A | KNG1 | c.930+773T>A | - | IntronicSNV | - | 7/9 |
6-35542476-C-A | FKBP5 | c.*1136G>T | - | 3-UTRSNV | 12/12 | - |
3-38645420-T-C | SCN5A | c.1673A>G | p.His558Arg | Missense | 12/28 | - |
11-113306765-C-T | DRD2 | c.1-11392G>A | - | IntronicSNV | - | 1/7 |
6-30457732-T-G | HLA-E | c.294T>G | p.Asn98Lys | Missense | 2/8 | - |
6-30457732-T-A | HLA-E | c.294T>A | p.Asn98Lys | Missense | 2/8 | - |
2-170010985-T-A | LRP2 | c.12280A>T | p.Lys4094* | Nonsense | 66/79 | - |
7-55259515-T-A | EGFR | c.2573T>A | p.Leu858Gln | Missense | 21/28 | - |
19-41349732-C-A | CYP2A6 | c.1454G>T | p.Arg485Leu | Missense | 9/9 | - |
9-136131322-G-A | ABO | c.793C>T | - | synonymous_variant | 8/8 | - |
2-234526871-C-G | UGT1A8 | c.518C>G | p.Ala173Gly | Missense | 1/5 | - |
7-87220886-A-G | ABCB1 | c.117+4196T>C | - | IntronicSNV | - | 4/28 |
1-20915701-A-C | CDA | c.79A>C | p.Lys27Gln | Missense | 1/4 | - |
7-30726777-A-C | CRHR2 | c.184+2030T>G | - | IntronicSNV | - | 2/12 |
1-226026406-A-G | EPHX1 | c.416A>G | p.His139Arg | Missense | 4/9 | - |
3-38674719-C-T | SCN5A | c.80G>A | p.Arg27His | Missense | 2/28 | - |
3-152553628-C-T | P2RY1 | c.57C>T | p.Ala19Ala | Synonymous | 1/1 | - |
10-96609775-A-C | CYP2C19 | c.1251A>C | p.Gly417Gly | Synonymous | 8/9 | - |
6-30457732-T-C | HLA-E | c.294T>C | p.Asn98Asn | Synonymous | 2/8 | - |
7-87161049-T-C | ABCB1 | c.2482-236A>G | - | IntronicSNV | - | 21/28 |
10-92594343-C-T | HTR7 | c.539+22547G>A | - | IntronicSNV | - | 1/2 |
21-37510146-A-G | CBR3 | c.313A>G | p.Ile105Val | Missense | 2/3 | - |
15-75044400-G-C | CYP1A2 | c.1043-65G>C | - | IntronicSNV | - | 4/6 |
6-18130918-T-G | TPMT | c.719A>C | p.Tyr240Ser | Missense | 9/9 | - |
7-87180198-C-T | ABCB1 | c.1000-44G>A | - | IntronicSNV | - | 10/28 |
7-87180198-C-A | ABCB1 | c.1000-44G>T | - | IntronicSNV | - | 10/28 |
7-99361626-A-G | CYP3A4 | c.875T>C | p.Leu292Pro | Missense | 10/13 | - |
10-96522561-T-C | CYP2C19 | c.99T>C | p.Pro33Pro | Synonymous | 1/9 | - |
16-16173232-G-T | ABCC1 | c.2012G>T | p.Gly671Val | Missense | 16/31 | - |
16-31102589-G-A | VKORC1 | c.358C>T | p.Leu120Leu | Synonymous | 3/3 | - |
2-201526330-A-G | AOX1 | c.3404A>G | p.Asn1135Ser | Missense | 30/35 | - |
1-97564154-C-T | DPYD | c.2657G>A | p.Arg886His | Missense | 21/23 | - |
8-18079653-C-T | NAT1 | c.97C>T | p.Arg33* | Nonsense | 3/3 | - |
22-42525182-A-T | CYP2D6 | c.358T>A | p.Phe120Ile | Missense | 3/9 | - |
1-97543752-G-A | DPYD | c.*780C>T | - | 3-UTRSNV | 23/23 | - |
19-39734923-A-G | IFNL3 | c.259-126T>C | - | IntronicSNV | - | 2/4 |
3-37034946-G-A | MLH1 | c.1-93G>A | - | 5-UTRSNV | 1/19 | - |
16-16205325-G-A | ABCC1 | c.2965G>A | p.Ala989Thr | Missense | 22/31 | - |
6-160543148-C-T | SLC22A1 | c.181C>T | p.Arg61Cys | Missense | 1/11 | - |
12-48272806-C-T | VDR | c.91G>A | p.Ala31Thr | Missense | 3/10 | - |
2-234676979-A-C | UGT1A1 | c.1198A>C | p.Asn400His | Missense | 4/5 | - |
2-234676979-A-G | UGT1A1 | c.1198A>G | p.Asn400Asp | Missense | 4/5 | - |
7-87179839-C-A | ABCB1 | c.1169G>T | p.Gly390Val | Missense | 12/29 | - |
12-21327529-T-C | SLCO1B1 | c.245T>C | p.Val82Ala | Missense | 4/15 | - |
1-97915614-C-G | DPYD | c.1905+1G>C | - | IntronicSNV | - | 14/22 |
1-97915614-C-T | DPYD | c.1905+1G>A | - | IntronicSNV | - | 14/22 |
8-63938764-G-A | GGH | c.452C>T | p.Thr151Ile | Missense | 5/9 | - |
6-31607050-C-T | BAG6 | c.3286-47G>A | - | IntronicSNV | - | 24/24 |
22-19955692-C-T | COMT | c.616-367C>T | - | IntronicSNV | - | 5/5 |
13-47433355-C-T | HTR2A | c.614-23581G>A | - | IntronicSNV | - | 3/3 |
12-21045694-A-G | SLCO1B3 | c.1683-5676A>G | - | IntronicSNV | - | 13/15 |
6-18139802-A-T | TPMT | c.419+94T>A | - | IntronicSNV | - | 5/8 |
X-153764217-C-T | G6PD | c.292G>A | p.Val98Met | Missense | 4/13 | - |
10-135348544-T-A | CYP2E1 | c.967+1143T>A | - | IntronicSNV | - | 6/8 |
8-18257877-G-A | NAT2 | c.364G>A | p.Asp122Asn | Missense | 2/2 | - |
X-153760654-G-A | G6PD | c.1401C>T | p.Tyr467Tyr | Synonymous | 11/13 | - |
8-18257795-C-T | NAT2 | c.282C>T | p.Tyr94Tyr | Synonymous | 2/2 | - |
10-96522463-A-G | CYP2C19 | c.1A>G | p.Met1Val | Missense | 1/9 | - |
19-41354171-G-A | CYP2A6 | c.607C>T | p.Arg203Cys | Missense | 4/9 | - |
8-18079213-C-A | NAT1 | c.1-344C>A | - | IntronicSNV | - | 2/2 |
2-108994808-C-G | SULT1C4 | c.15C>G | p.Asp5Glu | Missense | 1/7 | - |
7-150647304-G-A | KCNH2 | c.2350C>T | p.Arg784Trp | Missense | 9/15 | - |
7-55229255-G-C | EGFR | c.1562G>C | p.Arg521Thr | Missense | 13/28 | - |
19-41349732-C-G | CYP2A6 | c.1454G>C | p.Arg485Pro | Missense | 9/9 | - |
1-163039777-T-C | RGS4 | c.44+459T>C | - | IntronicSNV | - | 1/4 |
19-41518370-C-T | CYP2B6 | c.1132C>T | p.Arg378* | Nonsense | 7/9 | - |
4-89033527-T-C | ABCG2 | c.1194+928A>G | - | IntronicSNV | - | 9/15 |
10-96612495-C-T | CYP2C19 | c.1297C>T | p.Arg433Trp | Missense | 9/9 | - |
5-74648603-A-T | HMGCR | c.1368+1176A>T | - | IntronicSNV | - | 11/19 |
X-153763492-T-C | G6PD | c.466A>G | p.Asn156Asp | Missense | 5/13 | - |
X-153763492-T-A | G6PD | c.466A>T | p.Asn156Tyr | Missense | 5/13 | - |
15-51502844-A-C | CYP19A1 | c.*161T>G | - | 3-UTRSNV | 10/10 | - |
3-152554357-A-G | P2RY1 | c.786A>G | p.Val262Val | Synonymous | 1/1 | - |
1-97544627-C-A | DPYD | c.2983G>T | p.Val995Phe | Missense | 23/23 | - |
22-42525132-G-C | CYP2D6 | c.408C>G | p.Val136Val | Synonymous | 3/9 | - |
4-69536084-A-C | UGT2B15 | c.253T>G | p.Tyr85Asp | Missense | 1/6 | - |
19-41514965-G-C | CYP2B6 | c.646-159G>C | - | IntronicSNV | - | 4/8 |
6-160664685-G-A | SLC22A2 | c.1198C>T | p.Arg400Cys | Missense | 7/11 | - |
3-119813282-A-G | GSK3B | c.1-1001T>C | - | IntergenicSNV | 1/11 | - |
17-37879588-A-T | ERBB2 | c.1963A>T | p.Ile655Phe | Missense | 17/27 | - |
1-226019633-T-C | EPHX1 | c.337T>C | p.Tyr113His | Missense | 3/9 | - |
7-30718103-G-A | CRHR2 | c.310+3428C>T | - | IntronicSNV | - | 3/12 |
2-234667582-A-T | UGT1A4 | c.868-8098A>T | - | IntronicSNV | - | 1/4 |
2-234667582-A-C | UGT1A4 | c.868-8098A>C | - | IntronicSNV | - | 1/4 |
2-234667582-A-G | UGT1A4 | c.868-8098A>G | - | IntronicSNV | - | 1/4 |
7-99258139-C-T | CYP3A5 | c.1009G>A | p.Ala337Thr | Missense | 10/13 | - |
10-96535173-T-C | CYP2C19 | c.358T>C | p.Trp120Arg | Missense | 3/9 | - |
21-46957794-T-G | SLC19A1 | c.80A>C | p.His27Pro | Missense | 2/6 | - |
X-153761160-C-G | G6PD | c.1138G>C | p.Asp380His | Missense | 9/13 | - |
X-153761160-C-T | G6PD | c.1138G>A | p.Asp380Asn | Missense | 9/13 | - |
1-97700417-G-C | DPYD | c.2433C>G | p.Ser811Ser | Synonymous | 19/23 | - |
1-20931474-G-A | CDA | c.208G>A | p.Ala70Thr | Missense | 2/4 | - |
1-97700417-G-T | DPYD | c.2433C>A | p.Ser811Ser | Synonymous | 19/23 | - |
6-101906652-A-G | GRIK2 | c.115+59384A>G | - | IntronicSNV | - | 1/16 |
6-101906652-A-C | GRIK2 | c.115+59384A>C | - | IntronicSNV | - | 1/16 |
8-18079517-A-T | NAT1 | c.1-40A>T | - | IntronicSNV | - | 2/2 |
1-20915716-C-A | CDA | c.94C>A | p.Pro32Thr | Missense | 1/4 | - |
15-75047426-C-T | CYP1A2 | c.1548C>T | p.Asn516Asn | Synonymous | 7/7 | - |
8-18258370-G-A | NAT2 | c.857G>A | p.Gly286Glu | Missense | 2/2 | - |
10-101542578-C-T | ABCC2 | c.1-24C>T | - | 5-UTRSNV | 1/32 | - |
7-150674935-C-T | KCNH2 | c.67G>A | p.Glu23Lys | Missense | 1/15 | - |
10-73769507-C-T | CHST3 | c.*1278C>T | - | 3-UTRSNV | 3/3 | - |
10-96811045-G-A | CYP2C8 | c.820-5337C>T | - | IntronicSNV | - | 5/8 |
4-89078924-T-A | ABCG2 | c.-20+614A>T | - | intron_variant | - | 1/15 |
3-38648278-CA-AC | SCN5A | c.1021_1022delTGinsAC | p.Cys341Thr | Missense | 9/28 | - |
2-234590527-T-A | UGT1A10 | c.855+44504T>A | - | IntronicSNV | - | 1/4 |
2-234590527-T-G | UGT1A10 | c.855+44504T>G | - | IntronicSNV | - | 1/4 |
15-75047245-G-A | CYP1A2 | c.1367G>A | p.Arg456His | Missense | 7/7 | - |
22-42525035-C-A | CYP2D6 | c.505G>T | p.Gly169* | Nonsense | 3/9 | - |
13-47433355-C-G | HTR2A | c.614-23581G>C | - | IntronicSNV | - | 3/3 |
15-75044552-G-A | CYP1A2 | c.1130G>A | p.Arg377Gln | Missense | 5/7 | - |
10-96580202-C-G | CYP2C19 | c.820-51C>G | - | IntronicSNV | - | 5/8 |
19-11227602-C-T | LDLR | c.1773C>T | p.Asn591Asn | Synonymous | 12/18 | - |
4-69682795-G-A | UGT2B10 | c.718+340G>A | - | IntronicSNV | - | 1/5 |
16-16228242-G-C | ABCC1 | c.4002G>C | p.Ser1334Ser | Synonymous | 28/31 | - |
16-16228242-G-A | ABCC1 | c.4002G>A | p.Ser1334Ser | Synonymous | 28/31 | - |
10-101604207-C-T | ABCC2 | c.3972C>T | p.Ile1324Ile | Synonymous | 28/32 | - |
1-98187098-T-C | DPYD | c.451A>G | p.Asn151Asp | Missense | 5/23 | - |
14-70245193-G-A | SLC10A1 | c.800C>T | p.Ser267Phe | Missense | 4/5 | - |
20-3193842-C-A | ITPA | c.94C>A | p.Pro32Thr | Missense | 2/8 | - |
20-3193842-C-G | ITPA | c.94C>G | p.Pro32Ala | Missense | 2/8 | - |
10-96701715-T-C | CYP2C9 | c.269T>C | p.Leu90Pro | Missense | 2/9 | - |
13-95713715-G-A | ABCC4 | c.3366+1243C>T | - | IntronicSNV | - | 26/30 |
13-95713715-G-T | ABCC4 | c.3366+1243C>A | - | IntronicSNV | - | 26/30 |
8-18080440-A-T | NAT1 | c.*11A>T | - | 3-UTRSNV | 3/3 | - |
17-45360730-T-C | ITGB3 | c.176T>C | p.Leu59Pro | Missense | 3/15 | - |
10-101604207-C-G | ABCC2 | c.3972C>G | p.Ile1324Met | Missense | 28/32 | - |
1-11906068-A-G | NPPA | c.454T>C | - | Missense | 3/3 | - |
16-16141823-T-C | ABCC1 | c.1219-176T>C | - | IntronicSNV | - | 9/30 |
X-114138144-C-G | HTR2C | c.551-3008C>G | - | IntronicSNV | - | 5/5 |
22-42525182-A-G | CYP2D6 | c.358T>C | p.Phe120Leu | Missense | 3/9 | - |
22-42525035-C-G | CYP2D6 | c.505G>C | p.Gly169Arg | Missense | 3/9 | - |
7-150644394-C-T | KCNH2 | c.3152+22G>A | - | IntronicSNV | - | 13/14 |
7-150644394-C-G | KCNH2 | c.3152+22G>C | - | IntronicSNV | - | 13/14 |
8-18257694-AGA-TGT | NAT2 | c.181_183delAGAinsTGT | p.Arg61Cys | Missense | 2/2 | - |
6-18131012-C-T | TPMT | c.626-1G>A | - | IntronicSNV | - | 8/8 |
21-37507767-G-A | CBR3 | c.277G>A | p.Val93Ile | Missense | 1/3 | - |
7-87133651-C-T | ABCB1 | c.3751G>A | p.Val1251Ile | Missense | 29/29 | - |
6-160670282-A-C | SLC22A2 | c.808T>G | p.Ser270Ala | Missense | 4/11 | - |
19-41522715-C-T | CYP2B6 | c.1459C>T | p.Arg487Cys | Missense | 9/9 | - |
19-41522715-C-A | CYP2B6 | c.1459C>A | p.Arg487Ser | Missense | 9/9 | - |
8-18079213-C-T | NAT1 | c.1-344C>T | - | IntronicSNV | - | 2/2 |
7-87214848-A-G | ABCB1 | c.266T>C | p.Met89Thr | Missense | 5/29 | - |
15-75045692-T-C | CYP1A2 | c.1253+81T>C | - | IntronicSNV | - | 6/6 |
2-170010985-T-C | LRP2 | c.12280A>G | p.Lys4094Glu | Missense | 66/79 | - |
19-41512918-T-C | CYP2B6 | c.593T>C | p.Met198Thr | Missense | 4/9 | - |
1-162085685-G-T | NOS1AP | c.106-38510G>T | - | IntronicSNV | - | 1/9 |
8-24775619-A-C | NEFM | c.2251A>C | p.Lys751Gln | Missense | 3/3 | - |
17-37879588-A-G | ERBB2 | c.1963A>G | p.Ile655Val | Missense | 17/27 | - |
1-98157332-G-A | DPYD | c.703C>T | p.Arg235Trp | Missense | 7/23 | - |
3-165548529-T-C | BCHE | c.293A>G | p.Asp98Gly | Missense | 2/4 | - |
3-165547569-C-A | BCHE | c.1253G>T | p.Gly418Val | Missense | 2/4 | - |
12-21358933-G-C | SLCO1B1 | c.1463G>C | p.Gly488Ala | Missense | 11/15 | - |
2-85780536-C-T | GGCX | c.974G>A | p.Arg325Gln | Missense | 8/15 | - |
16-16162019-T-C | ABCC1 | c.1684T>C | p.Leu562Leu | Synonymous | 13/31 | - |
10-96748777-C-T | CYP2C9 | c.1465C>T | p.Pro489Ser | Missense | 9/9 | - |
19-41356234-A-G | CYP2A6 | c.98T>C | p.Leu33Pro | Missense | 1/9 | - |
4-69432948-T-C | UGT2B17 | c.724+531A>G | - | IntronicSNV | - | 1/5 |
X-153765166-G-C | G6PD | c.211-773C>G | - | IntronicSNV | - | 2/12 |
X-153765166-G-A | G6PD | c.211-773C>T | - | IntronicSNV | - | 2/12 |
3-38593393-T-C | SCN5A | c.4814-344A>G | - | IntronicSNV | - | 27/27 |
12-21378021-G-A | SLCO1B1 | c.1865+248G>A | - | IntronicSNV | - | 14/14 |
1-98348885-G-A | DPYD | c.85C>T | p.Arg29Cys | Missense | 2/23 | - |
X-113960649-G-A | HTR2C | c.1-697G>A | - | IntronicSNV | 1/6 | - |
4-89055379-G-A | ABCG2 | c.204-1592C>T | - | IntronicSNV | - | 2/15 |
19-41518221-T-C | CYP2B6 | c.983T>C | p.Ile328Thr | Missense | 7/9 | - |
1-97839133-C-G | DPYD | c.2042G>C | p.Gly681Ala | Missense | 16/23 | - |
3-119615375-T-C | GSK3B | c.813+9227A>G | - | IntronicSNV | - | 7/10 |
22-19930121-A-G | COMT | c.-92+701A>G | - | intron_variant | - | 1/5 |
8-37823798-A-G | ADRB3 | c.190T>C | p.Trp64Arg | Missense | 1/2 | - |
7-87199564-C-A | ABCB1 | c.287-25G>T | - | IntronicSNV | - | 5/28 |
10-73773014-G-A | CHST3 | c.*4785G>A | - | 3-UTRSNV | 3/3 | - |
10-101572819-G-T | ABCC2 | c.2012G>T | p.Gly671Val | Missense | 16/32 | - |
7-87157051-G-A | ABCB1 | c.2685+3559C>T | - | IntronicSNV | - | 22/28 |
21-37518706-G-A | CBR3 | c.730G>A | p.Val244Met | Missense | 3/3 | - |
22-42522613-G-C | CYP2D6 | c.1457C>G | p.Thr486Ser | Missense | 9/9 | - |
11-120663363-T-C | GRIK4 | c.83-10039T>C | - | IntronicSNV | - | 3/20 |
17-61568699-TG-AC | ACE | c.2869_2870delTGinsAC | p.Cys957Thr | Missense | 19/25 | - |
1-11850904-C-T | MTHFR | c.1804G>A | p.Glu602Lys | Missense | 12/12 | - |
11-74876840-C-T | SLCO2B1 | c.294C>T | p.Asn98Asn | Synonymous | 4/14 | - |
16-31102321-C-T | VKORC1 | c.*134G>A | - | 3-UTRSNV | 3/3 | - |
2-234665659-T-G | UGT1A4 | c.868-10021T>G | - | IntronicSNV | - | 1/4 |
3-148459395-C-T | AGTR1 | c.573C>T | p.Leu191Leu | Synonymous | 3/3 | - |
1-98060689-T-C | DPYD | c.884A>G | p.Gln295Arg | Missense | 9/23 | - |
3-186454180-A-C | KNG1 | c.931-2708A>C | - | IntronicSNV | - | 7/9 |
2-38298203-C-G | CYP1B1 | c.1294G>C | p.Val432Leu | Missense | 3/3 | - |
9-4567353-C-G | SLC1A1 | c.484-316C>G | - | IntronicSNV | - | 5/11 |
2-234669142-A-G | UGT1A1 | c.209A>G | p.Asp70Gly | Missense | 1/5 | - |
16-31105353-G-A | VKORC1 | c.173+525C>T | - | IntronicSNV | - | 1/2 |
11-113283688-C-A | DRD2 | c.811-83G>T | - | IntronicSNV | - | 6/7 |
19-41515107-C-T | CYP2B6 | c.646-17C>T | - | IntronicSNV | - | 4/8 |
10-96800873-T-C | CYP2C8 | c.1149+1774A>G | - | IntronicSNV | - | 7/8 |
13-95714976-C-G | ABCC4 | c.3348G>C | p.Lys1116Asn | Missense | 26/31 | - |
8-18257877-G-C | NAT2 | c.364G>C | p.Asp122His | Missense | 2/2 | - |
8-18257877-G-T | NAT2 | c.364G>T | p.Asp122Tyr | Missense | 2/2 | - |
8-18080115-C-T | NAT1 | c.559C>T | p.Arg187* | Nonsense | 3/3 | - |
14-105239192-T-C | AKT1 | c.1172+23A>G | - | IntronicSNV | - | 11/13 |
8-18257703-C-T | NAT2 | c.190C>T | p.Arg64Trp | Missense | 2/2 | - |
7-99247772-A-G | CYP3A5 | c.1337T>C | p.Phe446Ser | Missense | 12/13 | - |
19-41350664-A-T | CYP2A6 | c.1175T>A | p.Phe392Tyr | Missense | 8/9 | - |
16-31103796-A-G | VKORC1 | c.283+837T>C | - | IntronicSNV | - | 2/2 |
7-87199564-C-T | ABCB1 | c.287-25G>A | - | IntronicSNV | - | 5/28 |
10-96609568-T-C | CYP2C19 | c.1150-106T>C | - | IntronicSNV | - | 7/8 |
9-136131322-G-T | ABO | c.793C>A | - | missense_variant | 8/8 | - |
11-58391501-G-A | CNTF | c.115-6G>A | - | IntronicSNV | - | 1/1 |
8-18079746-C-T | NAT1 | c.190C>T | p.Arg64Trp | Missense | 3/3 | - |
10-101611294-G-A | ABCC2 | c.4544G>A | p.Cys1515Tyr | Missense | 32/32 | - |
9-86905119-C-T | SLC28A3 | c.1099G>A | p.Gly367Arg | Missense | 12/19 | - |
X-113960649-G-C | HTR2C | c.1-697G>C | - | IntronicSNV | 1/6 | - |
3-186459227-A-G | KNG1 | c.1126-84A>G | - | IntronicSNV | - | 9/9 |
22-19956781-G-A | COMT | c.*522G>A | - | 3-UTRSNV | 6/6 | - |
7-150667210-C-T | KCNH2 | c.307+4589G>A | - | IntronicSNV | - | 2/14 |
10-101595996-T-A | ABCC2 | c.3563T>A | p.Val1188Glu | Missense | 25/32 | - |
6-33753673-G-A | LEMD2 | c.777+838C>T | - | IntronicSNV | - | 2/8 |
7-99262835-C-T | CYP3A5 | c.624G>A | p.Lys208Lys | Synonymous | 7/13 | - |
7-87174198-G-A | ABCB1 | c.2005C>T | p.Arg669Cys | Missense | 17/29 | - |
2-234665659-T-A | UGT1A4 | c.868-10021T>A | - | IntronicSNV | - | 1/4 |
22-42523943-A-G | CYP2D6 | c.886T>C | p.Cys296Arg | Missense | 6/9 | - |
7-87179601-A-T | ABCB1 | c.1236T>A | p.Gly412Gly | Synonymous | 13/29 | - |
7-87230193-A-G | ABCB1 | c.-129T>C | - | 5_prime_UTR_variant | 2/29 | - |
3-119526349-G-A | NR1I2 | c.197+55G>A | - | IntronicSNV | - | 2/8 |
8-18080440-A-C | NAT1 | c.*11A>C | - | 3-UTRSNV | 3/3 | - |
10-96602622-C-T | CYP2C19 | c.990C>T | p.Val330Val | Synonymous | 7/9 | - |
12-48251333-T-C | VDR | c.416A>G | p.His139Arg | Missense | 5/10 | - |
9-125133507-C-T | PTGS1 | c.50C>T | p.Pro17Leu | Missense | 2/11 | - |
9-4564432-G-A | SLC1A1 | c.414G>A | p.Thr138Thr | Synonymous | 4/12 | - |
22-42523943-A-T | CYP2D6 | c.886T>A | p.Cys296Ser | Missense | 6/9 | - |
22-42525035-C-T | CYP2D6 | c.505G>A | p.Gly169Arg | Missense | 3/9 | - |
3-119612942-C-A | GSK3B | c.813+11660G>T | - | IntronicSNV | - | 7/10 |
7-87179601-A-C | ABCB1 | c.1236T>G | p.Gly412Gly | Synonymous | 13/29 | - |
7-150667210-C-A | KCNH2 | c.307+4589G>T | - | IntronicSNV | - | 2/14 |