TABLE 3.
Information and P‐values for the variants examined in this study
| Genotype | dbSNP | In silico function (PolyPhen‐2) | In silico function (SIFT) | Allele frequency (%) (Japanese/east Asian/Total) | P‐value |
|---|---|---|---|---|---|
| DPYD | |||||
| NM_000110.3:c.85C>T NP_000101.2:p.Arg29Cys | rs1801265 | Benign ( 0) | Tolerated (0.18) | 96.85/92.8/76.6 | .507 |
| NM_000110.3:c.496A>G NP_000101.2:p.Met166Val | rs2297595 | Probably damaging (1) | Tolerated (0.07) | 2.18/1.524/8.585 | .146 |
| NM_000110.3:c.596G>A NP_000101.2:p.Ser199Asn | rs776973423 | Probably damaging (1) | Damaging (0.02) | No data/0/0.006371 | .183 |
| NM_000110.3:c.733A>T NP_000101.2:p.Ile245Phe | rs767836989 | Possibly damaging (0.853) | Damaging (0) | No data/0/0.004376 | .183 |
| NM_000110.3:c.914C>A NP_000101.2:p.Thr305Lys | No number | Probably damaging (0.999) | Damaging (0.01) | No data/no data/no data | 1 |
| NM_000110.3:c.1003G>A NP_000101.2:p.Val335Met | rs72549306 | Probably damaging (1) | Damaging (0) | 0.12/0.01632/0.001989 | 1 |
| NM_000110.3:c.1156G>T NP_000101.2:p.Glu386Ter | rs78060119 | No data/0/0.0007974 | .183 | ||
| NM_000110.3:c.1627A>G NP_000101.2:p.Ile543Val | rs1801159 | Benign (0) | Tolerated (0.44) | 27.62/25.34/19.52 | .974 |
| NM_000110.3:c.1666A>C NP_000101.2:p.Ser556Arg | rs755407188 | Probably damaging (1) | Damaging (0) | No data/0.02176/0.001596 | 1 |
| NM_000110.3:c.1712C>A NP_000101.2:p.Ala571Asp | No number | Probably damaging (1) | Damaging (0) | No data/no data/no data | .183 |
| NM_000110.3:c.1863G>T NP_000101.2:p.Trp621Cys | No number | Probably damaging (1) | Damaging (0) | No data/no data/no data | .183 |
| NM_000110.3:c.2194G>A NP_000101.2:p.Val732Ile | rs1801160 | Probably damaging (0.999) | Damaging (0) | 19.7/1.887/4.531 | .266 |
| NM_000110.3:c.2303C>A NP_000101.2:p.Thr768Lys | rs56005131 | Possibly damaging (0.579) | Damaging (0) | 24.1/0.236/0.01948 | .429 |
| NM_000110.3:c.2476G>A NP_000101.2:p.Val826Met | No number | Probably damaging (0.975) | Damaging (0) | 0.14/no data/no data | 1 |
| NM_000110.3:c.2678A>G NP_000101.2:p.Asn893Ser | rs188052243 | Benign (0) | Tolerated (0.41) | 0.22/0.04903/0.003989 | 1 |
| DPYS | |||||
| NM_001385.2:c.‐1T>C | rs2959023 | 69.14/70.45/59.17 | .45 | ||
| NM_001385.2:c.17G>A NP_001376.1:p.Arg6Gln | rs199618701 | Benign (0.028) | Damaging (0.02) | 0.13/0.3628/0.05538 | 1 |
| NM_001385.2:c.541C>T NP_001376.1:p.Arg181Trp | rs36027551 | Benign (0.024) | Tolerated (0.18) | 3.02/5.928/0.9123 | .0813 |
| NM_001385.2:c.884A>G NP_001376.1:p.His295Arg | rs996605020 | Probably damaging (0.985) | Tolerated (0.27) | No data/no data/no data | 1 |
| NM_001385.2:c.1001A>G NP_001376.1:p.Gln334Arg | rs121964923 | Probably damaging (1) | Damaging (0) | 0.41/0.06516/0.004597 | .087 |
| NM_001385.2:c.1253C>T NP_001376.1:p.Thr418Ile | No number | Probably damaging (1) | Damaging (0) | 0.01/no data/no data | 1 |
| NM_001385.2:c.1469G>A NP_001376.1:p.Arg490His | rs189448963 | Probably damaging (1) | Damaging (0) | 0.06/0.01504/0.02369 | 1 |
| UPB1 | |||||
| NM_016327.2:c.91G>A NP_057411.1:p.Gly31Ser | rs200145797 | Probably damaging (1) | Damaging (0) | 0.12/0.4612/0.03339 | 1 |
| NM_016327.2:c.977G>A NP_057411.1:p.Arg326Gln | rs118163237 | Probably damaging (1) | Tolerated (0.29) | 0.85/2.611/0.192 | .671 |