Table 3.
Variants identified in all cases and controls in the present study.
| Location | E2 | E3 | I (E3–E4) | I (E4–E5) | E6 | I (E7–E8) | I (E9–E10) | E10 | I (E10–E11) | E13 | I (E13–E14) | I (E13–E14) | E14 | I (E16–E17) | E18 | I (E18–E19) | E19 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant (coding) | c.85T > C | c.187A > G | c.234-81G > A | c.322-63G > C | c.496A > G | c.763-118A > G | c.958 + 134T > G | c.1084G > A | c.1129-15T > C | c.1627A > G | c.1740 + 39C > T | c.1740 + 40A > G | c.1896T > C | c.2058 + 101T > C | c.2194G > A | c.2300-39G > A | c.2324T > G | |
| Variant (protein) | p.Cys29Arg | p.Lys63Glu | N/A | N/A | p.Met166Val | N/A | N/A | p.Val362Ile | N/A | p.Ile543Val | N/A | N/A | p.Phe632Phe | N/A | p.Val732Ile | N/A | p.Leu775Trp | |
| Variant (RefSeq) | rs1801265 | rs367619008 | rs944174134 | rs2297595 | rs3790387 | rs2811202 | rs76387818 | rs56293913 | rs1801159 | rs2786783 | rs2811178 | rs17376848 | rs1890138 | rs1801160 | rs12137711 | rs200643089 | ||
| CPIC status | NF (Strong) | Not included | Not included | Not included | NF (moderate) | Not included | Not included | Not included | Not included | NF (strong) | NF (strong) | Not included | NF (moderate) | Not included | NF (moderate) | Not included | Not included | |
| Allele | *9A | *5 | *6 | |||||||||||||||
| Case 1 | G/G | |||||||||||||||||
| Case 2 | A/G | *1/*6 | ||||||||||||||||
| Case 3 | A/G | |||||||||||||||||
| Case 4 | A/G | G/A | ||||||||||||||||
| Case 5 | *1/*9A | A/G | ||||||||||||||||
| Case 6 | A/G | |||||||||||||||||
| Case 7 | *5/*5 | T/T | G/G | |||||||||||||||
| Case 8 | *1/*9A | *1/*5 | A/G | G/A | ||||||||||||||
| Case 9 | *1/*9A | G/C | A/G | |||||||||||||||
| Case 10 | *1/*9A | A/G | ||||||||||||||||
| Case 11 | G/A | *1/*5 | C/T | G/G | T/G | |||||||||||||
| Cnt 1 | *1/*9A | G/G | ||||||||||||||||
| Cnt 2 | A/G | *1/*6 | ||||||||||||||||
| Cn t3 | *1/*9A | A/G | A/G | T/G | T/C | *1/*5 | G/G | G/A | ||||||||||
| Cnt 4 | A/G | C/C | ||||||||||||||||
| Cnt 5 | *1/*9A | A/G | A/G | T/G | T/C | *1/*5 | G/G | |||||||||||
| Cnt 6 | A/G | |||||||||||||||||
| Cnt 7 | G/G | |||||||||||||||||
| Cnt 8 | C/C | |||||||||||||||||
| Cnt 9 | A/G | |||||||||||||||||
| Cnt 10 | *1/*9A | A/G | ||||||||||||||||
| Cnt 11 | *1/*9A | A/G | ||||||||||||||||
| Cnt 12 | *1/*9A | G/A | A/G | A/G | ||||||||||||||
| Cnt 13 | A/G | G/A | ||||||||||||||||
| Cnt 14 | G/G | |||||||||||||||||
| Cnt 15 | *1/*9A | T/C | ||||||||||||||||
| Cnt 16 | *9/*9 | A/G | A/G | T/G | T/C | *1/*5 | C/T | G/G | *1/*6 | |||||||||
| Cnt 17 | A/G | T/C | ||||||||||||||||
| Cnt 18 | *1/*9A | A/G | A/G | T/G | T/C | *1/*5 | T/C | |||||||||||
| Cnt 19 | A/G | |||||||||||||||||
| Cnt 20 | G/G | |||||||||||||||||
| Cnt 21 | A/G | T/C | *1/*6 | |||||||||||||||
| Cnt 22 | A/G |
Empty boxes indicate a wild-type genotype. Abbreviations: E: exon; I: intron; Cnt: control; NF: normal function. CPIC status: variant acknowledged in allele definition tables of the Clinical Pharmacogenetics Implementation Consortium guideline on fluoropyrimidines and DPYD testing.