| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97193105C>A | CA419137087 | DPYD,DPYD-AS1 | c.2586G>T (p.Gly862=) n.65-72309C>A c.2370G>T (p.Gly790=) c.2475G>T (p.Gly825=) c.2091G>T (p.Gly697=) | |
| 1 | g.97193105C= | CA1182758249 | DPYD,DPYD-AS1 | c.2586G= (p.Gly862=) n.65-72309C= c.2370G= (p.Gly790=) c.2475G= (p.Gly825=) c.2091G= (p.Gly697=) | |
| 1 | g.97193105C>G | CA419137086 | DPYD,DPYD-AS1 | c.2586G>C (p.Gly862=) n.65-72309C>G c.2370G>C (p.Gly790=) c.2475G>C (p.Gly825=) c.2091G>C (p.Gly697=) | |
| 1 | g.97193105C>T | CA27471511 | DPYD,DPYD-AS1 | c.2586G>A (p.Gly862=) n.65-72309C>T c.2370G>A (p.Gly790=) c.2475G>A (p.Gly825=) c.2091G>A (p.Gly697=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.97193106C>A | CA341373343 | DPYD,DPYD-AS1 | c.2585G>T (p.Gly862Val) n.65-72308C>A c.2369G>T (p.Gly790Val) c.2474G>T (p.Gly825Val) c.2090G>T (p.Gly697Val) | |
| 1 | g.97193106C>G | CA341373342 | DPYD,DPYD-AS1 | c.2585G>C (p.Gly862Ala) n.65-72308C>G c.2369G>C (p.Gly790Ala) c.2474G>C (p.Gly825Ala) c.2090G>C (p.Gly697Ala) | |
| 1 | g.97193106C>T | CA341373341 | DPYD,DPYD-AS1 | c.2585G>A (p.Gly862Glu) n.65-72308C>T c.2369G>A (p.Gly790Glu) c.2474G>A (p.Gly825Glu) c.2090G>A (p.Gly697Glu) | |
| 1 | g.97193107C>A | CA341373344 | DPYD,DPYD-AS1 | c.2584G>T (p.Gly862Trp) n.65-72307C>A c.2368G>T (p.Gly790Trp) c.2473G>T (p.Gly825Trp) c.2089G>T (p.Gly697Trp) | gnomAD v4 |
| 1 | g.97193107C= | CA1182758250 | DPYD,DPYD-AS1 | c.2584G= (p.Gly862=) n.65-72307C= c.2368G= (p.Gly790=) c.2473G= (p.Gly825=) c.2089G= (p.Gly697=) | |
| 1 | g.97193107C>G | CA963002 | DPYD,DPYD-AS1 | c.2584G>C (p.Gly862Arg) n.65-72307C>G c.2368G>C (p.Gly790Arg) c.2473G>C (p.Gly825Arg) c.2089G>C (p.Gly697Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97193107C>T | CA341373345 | DPYD,DPYD-AS1 | c.2584G>A (p.Gly862Arg) n.65-72307C>T c.2368G>A (p.Gly790Arg) c.2473G>A (p.Gly825Arg) c.2089G>A (p.Gly697Arg) | COSMIC |
| 1 | g.97193108T>A | CA341373346 | DPYD,DPYD-AS1 | c.2583A>T (p.Lys861Asn) n.65-72306T>A c.2367A>T (p.Lys789Asn) c.2472A>T (p.Lys824Asn) c.2088A>T (p.Lys696Asn) | |
| 1 | g.97193108T>C | CA419137089 | DPYD,DPYD-AS1 | c.2583A>G (p.Lys861=) n.65-72306T>C c.2367A>G (p.Lys789=) c.2472A>G (p.Lys824=) c.2088A>G (p.Lys696=) | gnomAD v4 |
| 1 | g.97193108T>G | CA341373347 | DPYD,DPYD-AS1 | c.2583A>C (p.Lys861Asn) n.65-72306T>G c.2367A>C (p.Lys789Asn) c.2472A>C (p.Lys824Asn) c.2088A>C (p.Lys696Asn) | |
| 1 | g.97193109T>A | CA341373348 | DPYD,DPYD-AS1 | c.2582A>T (p.Lys861Ile) n.65-72305T>A c.2366A>T (p.Lys789Ile) c.2471A>T (p.Lys824Ile) c.2087A>T (p.Lys696Ile) | |
| 1 | g.97193109T>C | CA963003 | DPYD,DPYD-AS1 | c.2582A>G (p.Lys861Arg) n.65-72305T>C c.2366A>G (p.Lys789Arg) c.2471A>G (p.Lys824Arg) c.2087A>G (p.Lys696Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97193109T>G | CA341373349 | DPYD,DPYD-AS1 | c.2582A>C (p.Lys861Thr) n.65-72305T>G c.2366A>C (p.Lys789Thr) c.2471A>C (p.Lys824Thr) c.2087A>C (p.Lys696Thr) | |
| 1 | g.97193109T= | CA1140699098 | DPYD,DPYD-AS1 | c.2582A= (p.Lys861=) n.65-72305T= c.2366A= (p.Lys789=) c.2471A= (p.Lys824=) c.2087A= (p.Lys696=) | |
| 1 | g.97193110T>A | CA341373350 | DPYD,DPYD-AS1 | c.2581A>T (p.Lys861Ter) n.65-72304T>A c.2365A>T (p.Lys789Ter) c.2470A>T (p.Lys824Ter) c.2086A>T (p.Lys696Ter) | |
| 1 | g.97193110T>C | CA341373351 | DPYD,DPYD-AS1 | c.2581A>G (p.Lys861Glu) n.65-72304T>C c.2365A>G (p.Lys789Glu) c.2470A>G (p.Lys824Glu) c.2086A>G (p.Lys696Glu) | |
| 1 | g.97193110T>G | CA341373352 | DPYD,DPYD-AS1 | c.2581A>C (p.Lys861Gln) n.65-72304T>G c.2365A>C (p.Lys789Gln) c.2470A>C (p.Lys824Gln) c.2086A>C (p.Lys696Gln) | |
| 1 | g.97193111_97193112del | CA913078543 | DPYD,DPYD-AS1 | c.2580_2581del (p.Lys861ArgfsTer9) n.65-72303_65-72302del c.2364_2365del (p.Lys789ArgfsTer9) c.2469_2470del (p.Lys824ArgfsTer9) c.2085_2086del (p.Lys696ArgfsTer9) | |
| 1 | g.97193111C>A | CA341373353 | DPYD,DPYD-AS1 | c.2580G>T (p.Gln860His) n.65-72303C>A c.2364G>T (p.Gln788His) c.2469G>T (p.Gln823His) c.2085G>T (p.Gln695His) | |
| 1 | g.97193111C>G | CA341373354 | DPYD,DPYD-AS1 | c.2580G>C (p.Gln860His) n.65-72303C>G c.2364G>C (p.Gln788His) c.2469G>C (p.Gln823His) c.2085G>C (p.Gln695His) | |
| 1 | g.97193111C>T | CA419137090 | DPYD,DPYD-AS1 | c.2580G>A (p.Gln860=) n.65-72303C>T c.2364G>A (p.Gln788=) c.2469G>A (p.Gln823=) c.2085G>A (p.Gln695=) | COSMIC |
| 1 | g.97193111_97193112delinsCT | CA1182758251 | DPYD,DPYD-AS1 | c.2579_2580delinsAG (p.Gln860=) n.65-72303_65-72302delinsCT c.2363_2364delinsAG (p.Gln788=) c.2468_2469delinsAG (p.Gln823=) c.2084_2085delinsAG (p.Gln695=) | |
| 1 | g.97193112del | CA963004 | DPYD,DPYD-AS1 | c.2579del (p.Gln860ArgfsTer9) n.65-72302del c.2363del (p.Gln788ArgfsTer9) c.2468del (p.Gln823ArgfsTer9) c.2084del (p.Gln695ArgfsTer9) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97193112T>A | CA341373357 | DPYD,DPYD-AS1 | c.2579A>T (p.Gln860Leu) n.65-72302T>A c.2363A>T (p.Gln788Leu) c.2468A>T (p.Gln823Leu) c.2084A>T (p.Gln695Leu) | |
| 1 | g.97193112T>C | CA341373356 | DPYD,DPYD-AS1 | c.2579A>G (p.Gln860Arg) n.65-72302T>C c.2363A>G (p.Gln788Arg) c.2468A>G (p.Gln823Arg) c.2084A>G (p.Gln695Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.97193112T>G | CA341373355 | DPYD,DPYD-AS1 | c.2579A>C (p.Gln860Pro) n.65-72302T>G c.2363A>C (p.Gln788Pro) c.2468A>C (p.Gln823Pro) c.2084A>C (p.Gln695Pro) | |
| 1 | g.97193112T= | CA1148428135 | DPYD,DPYD-AS1 | c.2579A= (p.Gln860=) n.65-72302T= c.2363A= (p.Gln788=) c.2468A= (p.Gln823=) c.2084A= (p.Gln695=) | |
| 1 | g.97193113G>A | CA341373358 | DPYD,DPYD-AS1 | c.2578C>T (p.Gln860Ter) n.65-72301G>A c.2362C>T (p.Gln788Ter) c.2467C>T (p.Gln823Ter) c.2083C>T (p.Gln695Ter) | gnomAD v4 |
| 1 | g.97193113G>C | CA341373359 | DPYD,DPYD-AS1 | c.2578C>G (p.Gln860Glu) n.65-72301G>C c.2362C>G (p.Gln788Glu) c.2467C>G (p.Gln823Glu) c.2083C>G (p.Gln695Glu) | |
| 1 | g.97193113G>T | CA341373360 | DPYD,DPYD-AS1 | c.2578C>A (p.Gln860Lys) n.65-72301G>T c.2362C>A (p.Gln788Lys) c.2467C>A (p.Gln823Lys) c.2083C>A (p.Gln695Lys) | |
| 1 | g.97193114G>A | CA419137091 | DPYD,DPYD-AS1 | c.2577C>T (p.His859=) n.65-72300G>A c.2361C>T (p.His787=) c.2466C>T (p.His822=) c.2082C>T (p.His694=) | gnomAD v4 |
| 1 | g.97193114G>C | CA341373361 | DPYD,DPYD-AS1 | c.2577C>G (p.His859Gln) n.65-72300G>C c.2361C>G (p.His787Gln) c.2466C>G (p.His822Gln) c.2082C>G (p.His694Gln) | |
| 1 | g.97193114G>T | CA341373362 | DPYD,DPYD-AS1 | c.2577C>A (p.His859Gln) n.65-72300G>T c.2361C>A (p.His787Gln) c.2466C>A (p.His822Gln) c.2082C>A (p.His694Gln) | |
| 1 | g.97193115T>A | CA341373363 | DPYD,DPYD-AS1 | c.2576A>T (p.His859Leu) n.65-72299T>A c.2360A>T (p.His787Leu) c.2465A>T (p.His822Leu) c.2081A>T (p.His694Leu) | |
| 1 | g.97193115T>C | CA341373364 | DPYD,DPYD-AS1 | c.2576A>G (p.His859Arg) n.65-72299T>C c.2360A>G (p.His787Arg) c.2465A>G (p.His822Arg) c.2081A>G (p.His694Arg) | |
| 1 | g.97193115T>G | CA341373365 | DPYD,DPYD-AS1 | c.2576A>C (p.His859Pro) n.65-72299T>G c.2360A>C (p.His787Pro) c.2465A>C (p.His822Pro) c.2081A>C (p.His694Pro) | |
| 1 | g.97193116G>A | CA341373366 | DPYD,DPYD-AS1 | c.2575C>T (p.His859Tyr) n.65-72298G>A c.2359C>T (p.His787Tyr) c.2464C>T (p.His822Tyr) c.2080C>T (p.His694Tyr) | |
| 1 | g.97193116G>C | CA341373367 | DPYD,DPYD-AS1 | c.2575C>G (p.His859Asp) n.65-72298G>C c.2359C>G (p.His787Asp) c.2464C>G (p.His822Asp) c.2080C>G (p.His694Asp) | |
| 1 | g.97193116G>T | CA341373368 | DPYD,DPYD-AS1 | c.2575C>A (p.His859Asn) n.65-72298G>T c.2359C>A (p.His787Asn) c.2464C>A (p.His822Asn) c.2080C>A (p.His694Asn) | gnomAD v4 |
| 1 | g.97193117A>C | CA341373369 | DPYD,DPYD-AS1 | c.2574T>G (p.Ser858Arg) n.65-72297A>C c.2358T>G (p.Ser786Arg) c.2463T>G (p.Ser821Arg) c.2079T>G (p.Ser693Arg) | |
| 1 | g.97193117A>G | CA419137092 | DPYD,DPYD-AS1 | c.2574T>C (p.Ser858=) n.65-72297A>G c.2358T>C (p.Ser786=) c.2463T>C (p.Ser821=) c.2079T>C (p.Ser693=) | gnomAD v4 |
| 1 | g.97193117A>T | CA341373370 | DPYD,DPYD-AS1 | c.2574T>A (p.Ser858Arg) n.65-72297A>T c.2358T>A (p.Ser786Arg) c.2463T>A (p.Ser821Arg) c.2079T>A (p.Ser693Arg) | |
| 1 | g.97193118C>A | CA341373373 | DPYD,DPYD-AS1 | c.2573G>T (p.Ser858Ile) n.65-72296C>A c.2357G>T (p.Ser786Ile) c.2462G>T (p.Ser821Ile) c.2078G>T (p.Ser693Ile) | |
| 1 | g.97193118C= | CA1182758252 | DPYD,DPYD-AS1 | c.2573G= (p.Ser858=) n.65-72296C= c.2357G= (p.Ser786=) c.2462G= (p.Ser821=) c.2078G= (p.Ser693=) | |
| 1 | g.97193118C>G | CA341373372 | DPYD,DPYD-AS1 | c.2573G>C (p.Ser858Thr) n.65-72296C>G c.2357G>C (p.Ser786Thr) c.2462G>C (p.Ser821Thr) c.2078G>C (p.Ser693Thr) | |
| 1 | g.97193118C>T | CA341373371 | DPYD,DPYD-AS1 | c.2573G>A (p.Ser858Asn) n.65-72296C>T c.2357G>A (p.Ser786Asn) c.2462G>A (p.Ser821Asn) c.2078G>A (p.Ser693Asn) | dbSNP |