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| Protein change | Nucleotide Change | Allele | Marker | Genotype |
| Asn516Asn | 1548T>C | *1B | rs2470890 | |
| -3860G>A | *1C | rs2069514 | ||
| -2467delT | *1D | rs35694136 | ||
| -739T>G | *1E/1K | rs2069526 | ||
| -729C>T | *1K | rs12720461 | ||
| -163C>A | *1F | rs762551 | ||
| Asp348Asn | 1042G>A | *3 | rs56276455 | |
| Ile386Phe | 1156A>G | *4 | rs72547516 | |
| Cys406Tyr | 1217G>A | *5 | rs55889066 | |
| Arg431Trp | 1291C>T | *6 | rs28399424 | |
| Splicing defect | 1253+1G>A | *7 | rs56107638 | |
| Arg456His | 1367G>A | *8 | rs72547517 | |
| Phe186Leu | 558C>A | *11 | rs72547513 | |
| Pro42Arg | 125C>G | *15 | rs72547511 | |
| Arg377Gln | 1130G>A | *16 | rs72547515 |
| Protein change | Nucleotide Change | Allele | Marker | Genotype |
| Lys262Arg | 785A>G | *4 | rs2279343 | |
| Arg487Cys | 1459C>T | *5 | rs3211371 | |
| Gln172His | 516G>T | *6 | rs3745274 | |
| Lys139Glu | 415A>G | *8 | rs12721655 | |
| Met46Leu | 136A>G | *11 | rs35303484 | |
| Gly99Glu | 296G>A | *12 | rs36060847 | |
| Arg140Gln | 419G>A | *14 | rs35773040 | |
| Ile391Asn | 1172T>A | *15 | rs35979566 | |
| Ile328Thr | 983T>C | *18 | rs28399499 | |
| -82T>C | *22 | rs34223104 | ||
| Pro167Ala | 499C>G | *26 | rs3826711 |
| Protein change | Nucleotide Change | Allele | Marker | Genotype |
| Arg296Cys | 886C>T | *2 | rs16947 | |
| Ser486Thr | 1457G>C | *2 | rs1135840 | |
| 408G>C | *2A | rs1058164 | ||
| Arg259Glyfs | 775delA | *3 | rs35742686 | |
| Splicing defect | 506-1G>A | *4 | rs3892097 | |
| Trp152Glyfs | 454delT | *6 | rs5030655 | |
| His324Pro | 971A>C | *7 | rs5030867 | |
| Gly169Ter/Arg | 505G>T/A | *8/*14 | rs5030865 | |
| Lys281del | 841_843delAAG | *9 | rs5030656 | |
| Pro34Ser | 100C>T | *10 | rs1065852 | |
| 181-1G>C | *11 | rs201377835 | ||
| Gly42Arg | 124G>A | *12 | rs5030862 | |
| 137-138insT | *15 | rs72549357 | ||
| Thr107Ile | 320C>T | *17 | rs28371706 | |
| 632_633insG | *20 | rs72549354 | ||
| Val338Met | 1012G>A | *29 | rs59421388 | |
| 406G>A | *29/*70 | rs61736512 | ||
| Val11Met | 31G>A | *35 | rs769258 | |
| (sing-dup) | *36 | Gene conversion to CYP2D7 in exon 9 | ||
| Splicing defect | 985+39G>A | *41 | rs28371725 | |
| CNV assay | *5/XN | Deletion/duplication |
| Protein change | Nucleotide Change | Allele | Marker | Genotype |
| Ile114Thr | 341T>C | *5 | rs1801280 | |
| Arg197Gln | 590G>A | *6 | rs1799930 | |
| Gly286Glu | 857G>A | *7 | rs1799931 | |
| Leu161Leu | 481C>T | *11 | rs1799929 | |
| Arg268Lys | 803A>G | *12 | rs1208 | |
| Tyr94Tyr | 282C>T | *13 | rs1041983 | |
| Arg64Gln | 191G>A | *14 | rs1801279 |
| Protein change | Nucleotide Change | Allele | Marker | Genotype |
| *2 | rs1800462 | |||
| *3A or *3B | rs1800460 | |||
| Ala154Thr | 460A>G | *3A or *3C | rs1142345 | |
| Tyr240Cys | 719A>G | *4 | rs1800584 |
| Protein change | Nucleotide Change | Allele | Marker | Genotype |
| Arg176Cys | 526C>T | *2 | rs7412 | |
| Cys130Arg | 388T>C | *4 | rs429358 |
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