CYP2C9 |
*2 |
rs1799853 |
c. 430C>T |
R144C |
Decreased |
*3 |
rs1057910 |
c. 1075A>C |
I359L |
Decreased |
*4 |
rs56165452 |
c. 1076T>C |
I359T |
Decreased |
*5 |
rs28371686 |
c. 1080C>G |
D360E |
Decreased |
*6 |
rs9332131 |
c. 818delA |
273 Frameshift |
None |
CYP2C19 |
*2 |
rs4244285 |
c. 681G>A |
Splicing defect |
None |
*3 |
rs4986893 |
c. 636G>A |
W212X |
None |
*4 |
rs28399504 |
c. 1A>G |
M1V |
None |
*5 |
rs56337013 |
c. 1297C>T |
R433W |
None |
*6 |
rs72552267 |
c. 395G>A |
R132Q |
None |
*7 |
rs72558186 |
c. 819+2T>A |
Splicing defect |
None |
*8 |
rs41291556 |
c. 358T>C |
W120R |
None |
*9 |
rs28399507 |
c. 431G>A |
R144H |
Decreased |
*10 |
rs6413438 |
c. 680C>T |
P227L |
Decreased |
*17 |
rs12248560 |
c. -806C>T |
Increased expression |
Increased |
CYP2D6 |
*2 |
rs16947, rs1135840 |
2850C>T, 4180G>C |
R296C, S486T |
Normal |
*2A |
rs1080985, rs16947, rs1135840 |
-1584C>G, 2850C>T, 4180G>C |
R296C, S486T |
Normal |
*3 |
rs35742686 |
2549delA |
259 Frameshift |
None |
*4 |
rs1065852, rs3892097, rs1135840 |
100C>T, 1846G>A, 4180G>C |
P34S, Splicing defect, S486T |
None |
*5 |
n/a |
n/a |
Gene deletion |
None |
*6 |
rs5030655 |
1707delT |
118 Frameshift |
None |
*7 |
rs5030867 |
2935A>C |
H324P |
None |
*8 |
rs5030865, rs16947, rs1135840 |
1758G>T, 2850C>T, 4180G>C |
G169X, R296C, S486T |
None |
*9 |
rs5030656 |
2615_2617delAAG |
K281del |
Decreased |
*10 |
rs1065852, rs1135840 |
100C>T, 4180G>C |
P34S, S486T |
Decreased |
*14 |
rs5030865, rs16947, rs1135840 |
1758G>A, 2850C>T, 4180G>C |
G169R, R296C, S486T |
None |
*17 |
rs28371706, rs16947, rs1135840 |
1023C>T, 2850C>T, 4180G>C |
T107I, R296C, S486T |
Decreased |
*29 |
rs16947, rs59421388, rs1135840 |
2850C>T, 3183G>A, 4180G>C |
R296C, V338M, S486T |
Decreased |
*35 |
rs769258, rs16947, rs1135840 |
31G>A, 2850C>T, 4180G>C |
V11M, R296C, S486T |
Normal |
*36 |
rs1065852, rs1135840 |
100C>T, 4180G>C, recombination at exon 9 |
P34S, S486T, CYP2D6-2D7 hybrid |
None |
*41 |
rs16947, rs28371725, rs1135840 |
2850C>T, 2988G>A, 4180G>C |
R296C, Splicing defect, S486T |
Decreased |
CYP3A5 |
*3 |
rs776746 |
6986A>G |
Splicing defect |
None |
VKORC1 |
*2 |
rs9923231 |
c. -1639G>A |
|
Decreased |