| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97098498A= | CA1182717181 | DPYD,DPYD-AS1 | c.2757T= (p.Pro919=) n.64+2512A= c.2541T= (p.Pro847=) c.2646T= (p.Pro882=) c.2262T= (p.Pro754=) | |
| 1 | g.97098498A>C | CA419136949 | DPYD,DPYD-AS1 | c.2757T>G (p.Pro919=) n.64+2512A>C c.2541T>G (p.Pro847=) c.2646T>G (p.Pro882=) c.2262T>G (p.Pro754=) | |
| 1 | g.97098498A>G | CA419136950 | DPYD,DPYD-AS1 | c.2757T>C (p.Pro919=) n.64+2512A>G c.2541T>C (p.Pro847=) c.2646T>C (p.Pro882=) c.2262T>C (p.Pro754=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97098498A>T | CA419136951 | DPYD,DPYD-AS1 | c.2757T>A (p.Pro919=) n.64+2512A>T c.2541T>A (p.Pro847=) c.2646T>A (p.Pro882=) c.2262T>A (p.Pro754=) | |
| 1 | g.97098499G>A | CA341374699 | DPYD,DPYD-AS1 | c.2756C>T (p.Pro919Leu) n.64+2513G>A c.2540C>T (p.Pro847Leu) c.2645C>T (p.Pro882Leu) c.2261C>T (p.Pro754Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.97098499G>C | CA341374698 | DPYD,DPYD-AS1 | c.2756C>G (p.Pro919Arg) n.64+2513G>C c.2540C>G (p.Pro847Arg) c.2645C>G (p.Pro882Arg) c.2261C>G (p.Pro754Arg) | |
| 1 | g.97098499G= | CA1182717182 | DPYD,DPYD-AS1 | c.2756C= (p.Pro919=) n.64+2513G= c.2540C= (p.Pro847=) c.2645C= (p.Pro882=) c.2261C= (p.Pro754=) | |
| 1 | g.97098499G>T | CA341374697 | DPYD,DPYD-AS1 | c.2756C>A (p.Pro919His) n.64+2513G>T c.2540C>A (p.Pro847His) c.2645C>A (p.Pro882His) c.2261C>A (p.Pro754His) | |
| 1 | g.97098500G>A | CA341374700 | DPYD,DPYD-AS1 | c.2755C>T (p.Pro919Ser) n.64+2514G>A c.2539C>T (p.Pro847Ser) c.2644C>T (p.Pro882Ser) c.2260C>T (p.Pro754Ser) | gnomAD v4 COSMIC |
| 1 | g.97098500G>C | CA341374701 | DPYD,DPYD-AS1 | c.2755C>G (p.Pro919Ala) n.64+2514G>C c.2539C>G (p.Pro847Ala) c.2644C>G (p.Pro882Ala) c.2260C>G (p.Pro754Ala) | |
| 1 | g.97098500G>T | CA341374702 | DPYD,DPYD-AS1 | c.2755C>A (p.Pro919Thr) n.64+2514G>T c.2539C>A (p.Pro847Thr) c.2644C>A (p.Pro882Thr) c.2260C>A (p.Pro754Thr) | gnomAD v4 COSMIC |
| 1 | g.97098500_97098501delinsGA | CA1182717183 | DPYD,DPYD-AS1 | c.2754_2755delinsTC (p.Ile918=) n.64+2514_64+2515delinsGA c.2538_2539delinsTC (p.Ile846=) c.2643_2644delinsTC (p.Ile881=) c.2259_2260delinsTC (p.Ile753=) | |
| 1 | g.97098501A>C | CA341374703 | DPYD,DPYD-AS1 | c.2754T>G (p.Ile918Met) n.64+2515A>C c.2538T>G (p.Ile846Met) c.2643T>G (p.Ile881Met) c.2259T>G (p.Ile753Met) | |
| 1 | g.97098501A>G | CA419136952 | DPYD,DPYD-AS1 | c.2754T>C (p.Ile918=) n.64+2515A>G c.2538T>C (p.Ile846=) c.2643T>C (p.Ile881=) c.2259T>C (p.Ile753=) | |
| 1 | g.97098501A>T | CA419136953 | DPYD,DPYD-AS1 | c.2754T>A (p.Ile918=) n.64+2515A>T c.2538T>A (p.Ile846=) c.2643T>A (p.Ile881=) c.2259T>A (p.Ile753=) | |
| 1 | g.97098502del | CA16040788 | DPYD,DPYD-AS1 | c.2754del (p.Pro919LeufsTer6) n.64+2516del c.2538del (p.Pro847LeufsTer6) c.2643del (p.Pro882LeufsTer6) c.2259del (p.Pro754LeufsTer6) | ClinVar dbSNP |
| 1 | g.97098502A= | CA1182717184 | DPYD,DPYD-AS1 | c.2753T= (p.Ile918=) n.64+2516A= c.2537T= (p.Ile846=) c.2642T= (p.Ile881=) c.2258T= (p.Ile753=) | |
| 1 | g.97098502A>C | CA341374705 | DPYD,DPYD-AS1 | c.2753T>G (p.Ile918Ser) n.64+2516A>C c.2537T>G (p.Ile846Ser) c.2642T>G (p.Ile881Ser) c.2258T>G (p.Ile753Ser) | gnomAD v4 |
| 1 | g.97098502A>G | CA962957 | DPYD,DPYD-AS1 | c.2753T>C (p.Ile918Thr) n.64+2516A>G c.2537T>C (p.Ile846Thr) c.2642T>C (p.Ile881Thr) c.2258T>C (p.Ile753Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97098502A>T | CA341374704 | DPYD,DPYD-AS1 | c.2753T>A (p.Ile918Asn) n.64+2516A>T c.2537T>A (p.Ile846Asn) c.2642T>A (p.Ile881Asn) c.2258T>A (p.Ile753Asn) | |
| 1 | g.97098503T>A | CA341374706 | DPYD,DPYD-AS1 | c.2752A>T (p.Ile918Phe) n.64+2517T>A c.2536A>T (p.Ile846Phe) c.2641A>T (p.Ile881Phe) c.2257A>T (p.Ile753Phe) | |
| 1 | g.97098503T>C | CA341374707 | DPYD,DPYD-AS1 | c.2752A>G (p.Ile918Val) n.64+2517T>C c.2536A>G (p.Ile846Val) c.2641A>G (p.Ile881Val) c.2257A>G (p.Ile753Val) | |
| 1 | g.97098503T>G | CA341374708 | DPYD,DPYD-AS1 | c.2752A>C (p.Ile918Leu) n.64+2517T>G c.2536A>C (p.Ile846Leu) c.2641A>C (p.Ile881Leu) c.2257A>C (p.Ile753Leu) | |
| 1 | g.97098504A>C | CA419136954 | DPYD,DPYD-AS1 | c.2751T>G (p.Pro917=) n.64+2518A>C c.2535T>G (p.Pro845=) c.2640T>G (p.Pro880=) c.2256T>G (p.Pro752=) | |
| 1 | g.97098504A>G | CA419136955 | DPYD,DPYD-AS1 | c.2751T>C (p.Pro917=) n.64+2518A>G c.2535T>C (p.Pro845=) c.2640T>C (p.Pro880=) c.2256T>C (p.Pro752=) | |
| 1 | g.97098504A>T | CA419136956 | DPYD,DPYD-AS1 | c.2751T>A (p.Pro917=) n.64+2518A>T c.2535T>A (p.Pro845=) c.2640T>A (p.Pro880=) c.2256T>A (p.Pro752=) | |
| 1 | g.97098505G>A | CA341374709 | DPYD,DPYD-AS1 | c.2750C>T (p.Pro917Leu) n.64+2519G>A c.2534C>T (p.Pro845Leu) c.2639C>T (p.Pro880Leu) c.2255C>T (p.Pro752Leu) | |
| 1 | g.97098505G>C | CA341374710 | DPYD,DPYD-AS1 | c.2750C>G (p.Pro917Arg) n.64+2519G>C c.2534C>G (p.Pro845Arg) c.2639C>G (p.Pro880Arg) c.2255C>G (p.Pro752Arg) | |
| 1 | g.97098505G>T | CA341374711 | DPYD,DPYD-AS1 | c.2750C>A (p.Pro917His) n.64+2519G>T c.2534C>A (p.Pro845His) c.2639C>A (p.Pro880His) c.2255C>A (p.Pro752His) | |
| 1 | g.97098506G>A | CA341374712 | DPYD,DPYD-AS1 | c.2749C>T (p.Pro917Ser) n.64+2520G>A c.2533C>T (p.Pro845Ser) c.2638C>T (p.Pro880Ser) c.2254C>T (p.Pro752Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97098506G>C | CA341374714 | DPYD,DPYD-AS1 | c.2749C>G (p.Pro917Ala) n.64+2520G>C c.2533C>G (p.Pro845Ala) c.2638C>G (p.Pro880Ala) c.2254C>G (p.Pro752Ala) | |
| 1 | g.97098506G= | CA1182717186 | DPYD,DPYD-AS1 | c.2749C= (p.Pro917=) n.64+2520G= c.2533C= (p.Pro845=) c.2638C= (p.Pro880=) c.2254C= (p.Pro752=) | |
| 1 | g.97098506G>T | CA341374713 | DPYD,DPYD-AS1 | c.2749C>A (p.Pro917Thr) n.64+2520G>T c.2533C>A (p.Pro845Thr) c.2638C>A (p.Pro880Thr) c.2254C>A (p.Pro752Thr) | |
| 1 | g.97098506_97098507delinsGC | CA1182717185 | DPYD,DPYD-AS1 | c.2748_2749delinsGC (p.Arg916=) n.64+2520_64+2521delinsGC c.2532_2533delinsGC (p.Arg844=) c.2637_2638delinsGC (p.Arg879=) c.2253_2254delinsGC (p.Arg751=) | |
| 1 | g.97098507C>A | CA341374715 | DPYD,DPYD-AS1 | c.2748G>T (p.Arg916Ser) n.64+2521C>A c.2532G>T (p.Arg844Ser) c.2637G>T (p.Arg879Ser) c.2253G>T (p.Arg751Ser) | |
| 1 | g.97098507C>G | CA341374716 | DPYD,DPYD-AS1 | c.2748G>C (p.Arg916Ser) n.64+2521C>G c.2532G>C (p.Arg844Ser) c.2637G>C (p.Arg879Ser) c.2253G>C (p.Arg751Ser) | |
| 1 | g.97098507C>T | CA419136957 | DPYD,DPYD-AS1 | c.2748G>A (p.Arg916=) n.64+2521C>T c.2532G>A (p.Arg844=) c.2637G>A (p.Arg879=) c.2253G>A (p.Arg751=) | gnomAD v4 |
| 1 | g.97098508del | CA16040789 | DPYD,DPYD-AS1 | c.2748del (p.Arg916SerfsTer9) n.64+2522del c.2532del (p.Arg844SerfsTer9) c.2637del (p.Arg879SerfsTer9) c.2253del (p.Arg751SerfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97098508C>A | CA341374717 | DPYD,DPYD-AS1 | c.2747G>T (p.Arg916Met) n.64+2522C>A c.2531G>T (p.Arg844Met) c.2636G>T (p.Arg879Met) c.2252G>T (p.Arg751Met) | |
| 1 | g.97098508C>G | CA341374718 | DPYD,DPYD-AS1 | c.2747G>C (p.Arg916Thr) n.64+2522C>G c.2531G>C (p.Arg844Thr) c.2636G>C (p.Arg879Thr) c.2252G>C (p.Arg751Thr) | |
| 1 | g.97098508C>T | CA341374719 | DPYD,DPYD-AS1 | c.2747G>A (p.Arg916Lys) n.64+2522C>T c.2531G>A (p.Arg844Lys) c.2636G>A (p.Arg879Lys) c.2252G>A (p.Arg751Lys) | |
| 1 | g.97098508_97098509delinsCT | CA1182717187 | DPYD,DPYD-AS1 | c.2746_2747delinsAG (p.Arg916=) n.64+2522_64+2523delinsCT c.2530_2531delinsAG (p.Arg844=) c.2635_2636delinsAG (p.Arg879=) c.2251_2252delinsAG (p.Arg751=) | |
| 1 | g.97098509T>A | CA341374720 | DPYD,DPYD-AS1 | c.2746A>T (p.Arg916Trp) n.64+2523T>A c.2530A>T (p.Arg844Trp) c.2635A>T (p.Arg879Trp) c.2251A>T (p.Arg751Trp) | |
| 1 | g.97098509T>C | CA341374721 | DPYD,DPYD-AS1 | c.2746A>G (p.Arg916Gly) n.64+2523T>C c.2530A>G (p.Arg844Gly) c.2635A>G (p.Arg879Gly) c.2251A>G (p.Arg751Gly) | |
| 1 | g.97098509T>G | CA419136958 | DPYD,DPYD-AS1 | c.2746A>C (p.Arg916=) n.64+2523T>G c.2530A>C (p.Arg844=) c.2635A>C (p.Arg879=) c.2251A>C (p.Arg751=) | |
| 1 | g.97098512del | CA962958 | DPYD,DPYD-AS1 | c.2746del (p.Arg916GlyfsTer9) n.64+2526del c.2530del (p.Arg844GlyfsTer9) c.2635del (p.Arg879GlyfsTer9) c.2251del (p.Arg751GlyfsTer9) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97098510T>A | CA341374722 | DPYD,DPYD-AS1 | c.2745A>T (p.Lys915Asn) n.64+2524T>A c.2529A>T (p.Lys843Asn) c.2634A>T (p.Lys878Asn) c.2250A>T (p.Lys750Asn) | |
| 1 | g.97098510T>C | CA419136959 | DPYD,DPYD-AS1 | c.2745A>G (p.Lys915=) n.64+2524T>C c.2529A>G (p.Lys843=) c.2634A>G (p.Lys878=) c.2250A>G (p.Lys750=) | |
| 1 | g.97098510T>G | CA341374723 | DPYD,DPYD-AS1 | c.2745A>C (p.Lys915Asn) n.64+2524T>G c.2529A>C (p.Lys843Asn) c.2634A>C (p.Lys878Asn) c.2250A>C (p.Lys750Asn) | |
| 1 | g.97098511T>A | CA341374725 | DPYD,DPYD-AS1 | c.2744A>T (p.Lys915Ile) n.64+2525T>A c.2528A>T (p.Lys843Ile) c.2633A>T (p.Lys878Ile) c.2249A>T (p.Lys750Ile) |