Gene | Allele | Genomic position* | Intronic position | Effect | Activity in vivo | References |
---|---|---|---|---|---|---|
CYP1A2 | CYP1A2*7 | 3533G1 > A | IVS6 + 1G > A | Disruption of the splice donor site in intron 6 | None | [2] |
CYP2C19 | CYP2C19*7 | 19294T > A | IVS5 + 2T > A | Disruption of the splice donor site in intron 5 | None | [3] |
CYP2D6 | CYP2D6*4 | 1846G > A | IVS3 - 1G > A | Disruption of the splice acceptor site in intron 3 | None | [4] |
 | CYP2D6*11 | 883G > C | IVS1 - 1G > C | Disruption of the splice acceptor site in intron 1 | None | [5] |
 | CYP2D6*41, CYP2D6*69 | 2988G > A | IVS6 + 39G > A | Insertion of an alternative splice donor site in intron 6 | Decreased | |
 | CYP2D6*44 | 2950G > C | IVS6 + 1G > C | Disruption of the splice donor site in intron 6 | None | [9] |
CYP3A5 | CYP3A5*3 | 6986A > G | IVS3 - 237A > G | Insertion of an alternative splice acceptor site in intron 3 | Decreased | [10] |
 | CYP3A5*5 | 12952T > C | IVS5 + 2T > C | Disruption of the splice donor site in intron 5 | None | [11] |
CYP21A2 | Common I2 splice variant** | 655A/C > G | IVS2 - 13A/C > G | Insertion of an alternative splice acceptor site in intron 2 | Decreased | [12] |
 | CYP21A2*26 | 1779G > C | IVS7 + 1G > C | Disruption of the splice donor site in intron 7 | None | [13] |
 | CYP21A2*31 | 295A > G | IVS1 - 2A > G | Disruption of the splice acceptor site in intron 1 | None | [14] |
 | CYP21A2*39 | 387G > A | IVS2 + 1G > A | Disruption of the splice donor site in intron 2 | None | [15] |
 | CYP21A2*43 | 1780T > G | IVS7 + 2T > G | Disruption of the splice donor site in intron 7 | None | [16] |
 | CYP21A2*68 | 666A > G | IVS2 - 2A > G | Disruption of the splice acceptor site in intron 2 | None | [17] |
POR | POR*3 | 27615G > A | IVS6 + 1G > A | Disruption of the splice donor site in intron 6 | Decreased | [18] |