Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.97193119T>A | CA341373376 | DPYD,DPYD-AS1 | c.2572A>T (p.Ser858Cys) n.65-72295T>A c.2356A>T (p.Ser786Cys) c.2461A>T (p.Ser821Cys) c.2077A>T (p.Ser693Cys) | |
1 | g.97193119T>C | CA341373374 | DPYD,DPYD-AS1 | c.2572A>G (p.Ser858Gly) n.65-72295T>C c.2356A>G (p.Ser786Gly) c.2461A>G (p.Ser821Gly) c.2077A>G (p.Ser693Gly) | |
1 | g.97193119T>G | CA341373375 | DPYD,DPYD-AS1 | c.2572A>C (p.Ser858Arg) n.65-72295T>G c.2356A>C (p.Ser786Arg) c.2461A>C (p.Ser821Arg) c.2077A>C (p.Ser693Arg) | dbSNP |
1 | g.97193119T= | CA1182758253 | DPYD,DPYD-AS1 | c.2572A= (p.Ser858=) n.65-72295T= c.2356A= (p.Ser786=) c.2461A= (p.Ser821=) c.2077A= (p.Ser693=) | |
1 | g.97193120C>A | CA419137093 | DPYD,DPYD-AS1 | c.2571G>T (p.Val857=) n.65-72294C>A c.2355G>T (p.Val785=) c.2460G>T (p.Val820=) c.2076G>T (p.Val692=) | |
1 | g.97193120C>G | CA419137094 | DPYD,DPYD-AS1 | c.2571G>C (p.Val857=) n.65-72294C>G c.2355G>C (p.Val785=) c.2460G>C (p.Val820=) c.2076G>C (p.Val692=) | |
1 | g.97193120C>T | CA419137095 | DPYD,DPYD-AS1 | c.2571G>A (p.Val857=) n.65-72294C>T c.2355G>A (p.Val785=) c.2460G>A (p.Val820=) c.2076G>A (p.Val692=) | |
1 | g.97193121A>C | CA341373377 | DPYD,DPYD-AS1 | c.2570T>G (p.Val857Gly) n.65-72293A>C c.2354T>G (p.Val785Gly) c.2459T>G (p.Val820Gly) c.2075T>G (p.Val692Gly) | |
1 | g.97193121A>G | CA341373378 | DPYD,DPYD-AS1 | c.2570T>C (p.Val857Ala) n.65-72293A>G c.2354T>C (p.Val785Ala) c.2459T>C (p.Val820Ala) c.2075T>C (p.Val692Ala) | |
1 | g.97193121A>T | CA341373379 | DPYD,DPYD-AS1 | c.2570T>A (p.Val857Glu) n.65-72293A>T c.2354T>A (p.Val785Glu) c.2459T>A (p.Val820Glu) c.2075T>A (p.Val692Glu) | |
1 | g.97193122C>A | CA341373380 | DPYD,DPYD-AS1 | c.2569G>T (p.Val857Leu) n.65-72292C>A c.2353G>T (p.Val785Leu) c.2458G>T (p.Val820Leu) c.2074G>T (p.Val692Leu) | |
1 | g.97193122C>G | CA341373381 | DPYD,DPYD-AS1 | c.2569G>C (p.Val857Leu) n.65-72292C>G c.2353G>C (p.Val785Leu) c.2458G>C (p.Val820Leu) c.2074G>C (p.Val692Leu) | gnomAD v4 |
1 | g.97193122C>T | CA341373382 | DPYD,DPYD-AS1 | c.2569G>A (p.Val857Met) n.65-72292C>T c.2353G>A (p.Val785Met) c.2458G>A (p.Val820Met) c.2074G>A (p.Val692Met) | |
1 | g.97193123A= | CA1144808887 | DPYD,DPYD-AS1 | c.2568T= (p.Thr856=) n.65-72291A= c.2352T= (p.Thr784=) c.2457T= (p.Thr819=) c.2073T= (p.Thr691=) | |
1 | g.97193123A>C | CA419137096 | DPYD,DPYD-AS1 | c.2568T>G (p.Thr856=) n.65-72291A>C c.2352T>G (p.Thr784=) c.2457T>G (p.Thr819=) c.2073T>G (p.Thr691=) | dbSNP gnomAD v4 |
1 | g.97193123A>G | CA963005 | DPYD,DPYD-AS1 | c.2568T>C (p.Thr856=) n.65-72291A>G c.2352T>C (p.Thr784=) c.2457T>C (p.Thr819=) c.2073T>C (p.Thr691=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193123A>T | CA419137097 | DPYD,DPYD-AS1 | c.2568T>A (p.Thr856=) n.65-72291A>T c.2352T>A (p.Thr784=) c.2457T>A (p.Thr819=) c.2073T>A (p.Thr691=) | |
1 | g.97193124G>A | CA963006 | DPYD,DPYD-AS1 | c.2567C>T (p.Thr856Ile) n.65-72290G>A c.2351C>T (p.Thr784Ile) c.2456C>T (p.Thr819Ile) c.2072C>T (p.Thr691Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193124G>C | CA341373383 | DPYD,DPYD-AS1 | c.2567C>G (p.Thr856Ser) n.65-72290G>C c.2351C>G (p.Thr784Ser) c.2456C>G (p.Thr819Ser) c.2072C>G (p.Thr691Ser) | gnomAD v4 |
1 | g.97193124G= | CA1182758254 | DPYD,DPYD-AS1 | c.2567C= (p.Thr856=) n.65-72290G= c.2351C= (p.Thr784=) c.2456C= (p.Thr819=) c.2072C= (p.Thr691=) | |
1 | g.97193124G>T | CA341373384 | DPYD,DPYD-AS1 | c.2567C>A (p.Thr856Asn) n.65-72290G>T c.2351C>A (p.Thr784Asn) c.2456C>A (p.Thr819Asn) c.2072C>A (p.Thr691Asn) | |
1 | g.97193125T>A | CA341373386 | DPYD,DPYD-AS1 | c.2566A>T (p.Thr856Ser) n.65-72289T>A c.2350A>T (p.Thr784Ser) c.2455A>T (p.Thr819Ser) c.2071A>T (p.Thr691Ser) | |
1 | g.97193125T>C | CA341373387 | DPYD,DPYD-AS1 | c.2566A>G (p.Thr856Ala) n.65-72289T>C c.2350A>G (p.Thr784Ala) c.2455A>G (p.Thr819Ala) c.2071A>G (p.Thr691Ala) | |
1 | g.97193125T>G | CA341373385 | DPYD,DPYD-AS1 | c.2566A>C (p.Thr856Pro) n.65-72289T>G c.2350A>C (p.Thr784Pro) c.2455A>C (p.Thr819Pro) c.2071A>C (p.Thr691Pro) | |
1 | g.97193126A= | CA1182758255 | DPYD,DPYD-AS1 | c.2565T= (p.Ala855=) n.65-72288A= c.2349T= (p.Ala783=) c.2454T= (p.Ala818=) c.2070T= (p.Ala690=) | |
1 | g.97193126A>C | CA419137098 | DPYD,DPYD-AS1 | c.2565T>G (p.Ala855=) n.65-72288A>C c.2349T>G (p.Ala783=) c.2454T>G (p.Ala818=) c.2070T>G (p.Ala690=) | |
1 | g.97193126A>G | CA419137099 | DPYD,DPYD-AS1 | c.2565T>C (p.Ala855=) n.65-72288A>G c.2349T>C (p.Ala783=) c.2454T>C (p.Ala818=) c.2070T>C (p.Ala690=) | |
1 | g.97193126A>T | CA419137100 | DPYD,DPYD-AS1 | c.2565T>A (p.Ala855=) n.65-72288A>T c.2349T>A (p.Ala783=) c.2454T>A (p.Ala818=) c.2070T>A (p.Ala690=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193127G>A | CA341373388 | DPYD,DPYD-AS1 | c.2564C>T (p.Ala855Val) n.65-72287G>A c.2348C>T (p.Ala783Val) c.2453C>T (p.Ala818Val) c.2069C>T (p.Ala690Val) | |
1 | g.97193127G>C | CA27471512 | DPYD,DPYD-AS1 | c.2564C>G (p.Ala855Gly) n.65-72287G>C c.2348C>G (p.Ala783Gly) c.2453C>G (p.Ala818Gly) c.2069C>G (p.Ala690Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193127G= | CA1182758256 | DPYD,DPYD-AS1 | c.2564C= (p.Ala855=) n.65-72287G= c.2348C= (p.Ala783=) c.2453C= (p.Ala818=) c.2069C= (p.Ala690=) | |
1 | g.97193127G>T | CA341373389 | DPYD,DPYD-AS1 | c.2564C>A (p.Ala855Asp) n.65-72287G>T c.2348C>A (p.Ala783Asp) c.2453C>A (p.Ala818Asp) c.2069C>A (p.Ala690Asp) | |
1 | g.97193128C>A | CA341373390 | DPYD,DPYD-AS1 | c.2563G>T (p.Ala855Ser) n.65-72286C>A c.2347G>T (p.Ala783Ser) c.2452G>T (p.Ala818Ser) c.2068G>T (p.Ala690Ser) | |
1 | g.97193128C= | CA1182758257 | DPYD,DPYD-AS1 | c.2563G= (p.Ala855=) n.65-72286C= c.2347G= (p.Ala783=) c.2452G= (p.Ala818=) c.2068G= (p.Ala690=) | |
1 | g.97193128C>G | CA341373391 | DPYD,DPYD-AS1 | c.2563G>C (p.Ala855Pro) n.65-72286C>G c.2347G>C (p.Ala783Pro) c.2452G>C (p.Ala818Pro) c.2068G>C (p.Ala690Pro) | |
1 | g.97193128C>T | CA963007 | DPYD,DPYD-AS1 | c.2563G>A (p.Ala855Thr) n.65-72286C>T c.2347G>A (p.Ala783Thr) c.2452G>A (p.Ala818Thr) c.2068G>A (p.Ala690Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97193129T>A | CA419137103 | DPYD,DPYD-AS1 | c.2562A>T (p.Pro854=) n.65-72285T>A c.2346A>T (p.Pro782=) c.2451A>T (p.Pro817=) c.2067A>T (p.Pro689=) | |
1 | g.97193129T>C | CA419137102 | DPYD,DPYD-AS1 | c.2562A>G (p.Pro854=) n.65-72285T>C c.2346A>G (p.Pro782=) c.2451A>G (p.Pro817=) c.2067A>G (p.Pro689=) | |
1 | g.97193129T>G | CA419137101 | DPYD,DPYD-AS1 | c.2562A>C (p.Pro854=) n.65-72285T>G c.2346A>C (p.Pro782=) c.2451A>C (p.Pro817=) c.2067A>C (p.Pro689=) | |
1 | g.97193129_97193132dup | CA2744694191 | DPYD,DPYD-AS1 | c.2559_2562dup (p.Ala855SerfsTer17) n.65-72285_65-72282dup c.2343_2346dup (p.Ala783SerfsTer17) c.2448_2451dup (p.Ala818SerfsTer17) c.2064_2067dup (p.Ala690SerfsTer17) | |
1 | g.97193130G>A | CA341373392 | DPYD,DPYD-AS1 | c.2561C>T (p.Pro854Leu) n.65-72284G>A c.2345C>T (p.Pro782Leu) c.2450C>T (p.Pro817Leu) c.2066C>T (p.Pro689Leu) | |
1 | g.97193130G>C | CA341373394 | DPYD,DPYD-AS1 | c.2561C>G (p.Pro854Arg) n.65-72284G>C c.2345C>G (p.Pro782Arg) c.2450C>G (p.Pro817Arg) c.2066C>G (p.Pro689Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.97193130G= | CA1182758258 | DPYD,DPYD-AS1 | c.2561C= (p.Pro854=) n.65-72284G= c.2345C= (p.Pro782=) c.2450C= (p.Pro817=) c.2066C= (p.Pro689=) | |
1 | g.97193130G>T | CA341373393 | DPYD,DPYD-AS1 | c.2561C>A (p.Pro854Gln) n.65-72284G>T c.2345C>A (p.Pro782Gln) c.2450C>A (p.Pro817Gln) c.2066C>A (p.Pro689Gln) | gnomAD v4 |
1 | g.97193131G>A | CA341373395 | DPYD,DPYD-AS1 | c.2560C>T (p.Pro854Ser) n.65-72283G>A c.2344C>T (p.Pro782Ser) c.2449C>T (p.Pro817Ser) c.2065C>T (p.Pro689Ser) | gnomAD v4 |
1 | g.97193131G>C | CA341373396 | DPYD,DPYD-AS1 | c.2560C>G (p.Pro854Ala) n.65-72283G>C c.2344C>G (p.Pro782Ala) c.2449C>G (p.Pro817Ala) c.2065C>G (p.Pro689Ala) | dbSNP |
1 | g.97193131G= | CA1182758259 | DPYD,DPYD-AS1 | c.2560C= (p.Pro854=) n.65-72283G= c.2344C= (p.Pro782=) c.2449C= (p.Pro817=) c.2065C= (p.Pro689=) | |
1 | g.97193131G>T | CA341373397 | DPYD,DPYD-AS1 | c.2560C>A (p.Pro854Thr) n.65-72283G>T c.2344C>A (p.Pro782Thr) c.2449C>A (p.Pro817Thr) c.2065C>A (p.Pro689Thr) | |
1 | g.97193132A>C | CA341373398 | DPYD,DPYD-AS1 | c.2559T>G (p.Ser853Arg) n.65-72282A>C c.2343T>G (p.Ser781Arg) c.2448T>G (p.Ser816Arg) c.2064T>G (p.Ser688Arg) | |
1 | g.97193132A>G | CA419137104 | DPYD,DPYD-AS1 | c.2559T>C (p.Ser853=) n.65-72282A>G c.2343T>C (p.Ser781=) c.2448T>C (p.Ser816=) c.2064T>C (p.Ser688=) | |
1 | g.97193132A>T | CA341373399 | DPYD,DPYD-AS1 | c.2559T>A (p.Ser853Arg) n.65-72282A>T c.2343T>A (p.Ser781Arg) c.2448T>A (p.Ser816Arg) c.2064T>A (p.Ser688Arg) | |
1 | g.97193133C>A | CA341373402 | DPYD,DPYD-AS1 | c.2558G>T (p.Ser853Ile) n.65-72281C>A c.2342G>T (p.Ser781Ile) c.2447G>T (p.Ser816Ile) c.2063G>T (p.Ser688Ile) | gnomAD v4 |
1 | g.97193133C>G | CA341373401 | DPYD,DPYD-AS1 | c.2558G>C (p.Ser853Thr) n.65-72281C>G c.2342G>C (p.Ser781Thr) c.2447G>C (p.Ser816Thr) c.2063G>C (p.Ser688Thr) | |
1 | g.97193133C>T | CA341373400 | DPYD,DPYD-AS1 | c.2558G>A (p.Ser853Asn) n.65-72281C>T c.2342G>A (p.Ser781Asn) c.2447G>A (p.Ser816Asn) c.2063G>A (p.Ser688Asn) | COSMIC |
1 | g.97193134T>A | CA341373403 | DPYD,DPYD-AS1 | c.2557A>T (p.Ser853Cys) n.65-72280T>A c.2341A>T (p.Ser781Cys) c.2446A>T (p.Ser816Cys) c.2062A>T (p.Ser688Cys) | |
1 | g.97193134T>C | CA341373405 | DPYD,DPYD-AS1 | c.2557A>G (p.Ser853Gly) n.65-72280T>C c.2341A>G (p.Ser781Gly) c.2446A>G (p.Ser816Gly) c.2062A>G (p.Ser688Gly) | gnomAD v4 |
1 | g.97193134T>G | CA341373404 | DPYD,DPYD-AS1 | c.2557A>C (p.Ser853Arg) n.65-72280T>G c.2341A>C (p.Ser781Arg) c.2446A>C (p.Ser816Arg) c.2062A>C (p.Ser688Arg) | dbSNP gnomAD v4 |
1 | g.97193134T= | CA1182758260 | DPYD,DPYD-AS1 | c.2557A= (p.Ser853=) n.65-72280T= c.2341A= (p.Ser781=) c.2446A= (p.Ser816=) c.2062A= (p.Ser688=) | |
1 | g.97193135C>A | CA341373406 | DPYD,DPYD-AS1 | c.2556G>T (p.Gln852His) n.65-72279C>A c.2340G>T (p.Gln780His) c.2445G>T (p.Gln815His) c.2061G>T (p.Gln687His) | |
1 | g.97193135C>G | CA341373407 | DPYD,DPYD-AS1 | c.2556G>C (p.Gln852His) n.65-72279C>G c.2340G>C (p.Gln780His) c.2445G>C (p.Gln815His) c.2061G>C (p.Gln687His) | |
1 | g.97193135C>T | CA419137105 | DPYD,DPYD-AS1 | c.2556G>A (p.Gln852=) n.65-72279C>T c.2340G>A (p.Gln780=) c.2445G>A (p.Gln815=) c.2061G>A (p.Gln687=) | |
1 | g.97193136T>A | CA341373408 | DPYD,DPYD-AS1 | c.2555A>T (p.Gln852Leu) n.65-72278T>A c.2339A>T (p.Gln780Leu) c.2444A>T (p.Gln815Leu) c.2060A>T (p.Gln687Leu) | |
1 | g.97193136T>C | CA341373409 | DPYD,DPYD-AS1 | c.2555A>G (p.Gln852Arg) n.65-72278T>C c.2339A>G (p.Gln780Arg) c.2444A>G (p.Gln815Arg) c.2060A>G (p.Gln687Arg) | |
1 | g.97193136T>G | CA341373410 | DPYD,DPYD-AS1 | c.2555A>C (p.Gln852Pro) n.65-72278T>G c.2339A>C (p.Gln780Pro) c.2444A>C (p.Gln815Pro) c.2060A>C (p.Gln687Pro) | |
1 | g.97193137G>A | CA16040793 | DPYD,DPYD-AS1 | c.2554C>T (p.Gln852Ter) n.65-72277G>A c.2338C>T (p.Gln780Ter) c.2443C>T (p.Gln815Ter) c.2059C>T (p.Gln687Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.97193137G>C | CA341373411 | DPYD,DPYD-AS1 | c.2554C>G (p.Gln852Glu) n.65-72277G>C c.2338C>G (p.Gln780Glu) c.2443C>G (p.Gln815Glu) c.2059C>G (p.Gln687Glu) | |
1 | g.97193137G= | CA1182758261 | DPYD,DPYD-AS1 | c.2554C= (p.Gln852=) n.65-72277G= c.2338C= (p.Gln780=) c.2443C= (p.Gln815=) c.2059C= (p.Gln687=) | |
1 | g.97193137G>T | CA341373412 | DPYD,DPYD-AS1 | c.2554C>A (p.Gln852Lys) n.65-72277G>T c.2338C>A (p.Gln780Lys) c.2443C>A (p.Gln815Lys) c.2059C>A (p.Gln687Lys) | |
1 | g.97193138T>A | CA419137106 | DPYD,DPYD-AS1 | c.2553A>T (p.Gly851=) n.65-72276T>A c.2337A>T (p.Gly779=) c.2442A>T (p.Gly814=) c.2058A>T (p.Gly686=) | |
1 | g.97193138T>C | CA419137107 | DPYD,DPYD-AS1 | c.2553A>G (p.Gly851=) n.65-72276T>C c.2337A>G (p.Gly779=) c.2442A>G (p.Gly814=) c.2058A>G (p.Gly686=) | gnomAD v4 |
1 | g.97193138T>G | CA419137108 | DPYD,DPYD-AS1 | c.2553A>C (p.Gly851=) n.65-72276T>G c.2337A>C (p.Gly779=) c.2442A>C (p.Gly814=) c.2058A>C (p.Gly686=) | |
1 | g.97193139C>A | CA341373413 | DPYD,DPYD-AS1 | c.2552G>T (p.Gly851Val) n.65-72275C>A c.2336G>T (p.Gly779Val) c.2441G>T (p.Gly814Val) c.2057G>T (p.Gly686Val) | |
1 | g.97193139C>G | CA341373414 | DPYD,DPYD-AS1 | c.2552G>C (p.Gly851Ala) n.65-72275C>G c.2336G>C (p.Gly779Ala) c.2441G>C (p.Gly814Ala) c.2057G>C (p.Gly686Ala) | |
1 | g.97193139C>T | CA341373415 | DPYD,DPYD-AS1 | c.2552G>A (p.Gly851Glu) n.65-72275C>T c.2336G>A (p.Gly779Glu) c.2441G>A (p.Gly814Glu) c.2057G>A (p.Gly686Glu) | |
1 | g.97193140C>A | CA341373418 | DPYD,DPYD-AS1 | c.2551G>T (p.Gly851Ter) n.65-72274C>A c.2335G>T (p.Gly779Ter) c.2440G>T (p.Gly814Ter) c.2056G>T (p.Gly686Ter) | |
1 | g.97193140C= | CA1182758262 | DPYD,DPYD-AS1 | c.2551G= (p.Gly851=) n.65-72274C= c.2335G= (p.Gly779=) c.2440G= (p.Gly814=) c.2056G= (p.Gly686=) | |
1 | g.97193140C>G | CA341373417 | DPYD,DPYD-AS1 | c.2551G>C (p.Gly851Arg) n.65-72274C>G c.2335G>C (p.Gly779Arg) c.2440G>C (p.Gly814Arg) c.2056G>C (p.Gly686Arg) | |
1 | g.97193140C>T | CA341373416 | DPYD,DPYD-AS1 | c.2551G>A (p.Gly851Arg) n.65-72274C>T c.2335G>A (p.Gly779Arg) c.2440G>A (p.Gly814Arg) c.2056G>A (p.Gly686Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.97193141A= | CA1182758263 | DPYD,DPYD-AS1 | c.2550T= (p.Asp850=) n.65-72273A= c.2334T= (p.Asp778=) c.2439T= (p.Asp813=) c.2055T= (p.Asp685=) | |
1 | g.97193141A>C | CA341373419 | DPYD,DPYD-AS1 | c.2550T>G (p.Asp850Glu) n.65-72273A>C c.2334T>G (p.Asp778Glu) c.2439T>G (p.Asp813Glu) c.2055T>G (p.Asp685Glu) | |
1 | g.97193141A>G | CA963008 | DPYD,DPYD-AS1 | c.2550T>C (p.Asp850=) n.65-72273A>G c.2334T>C (p.Asp778=) c.2439T>C (p.Asp813=) c.2055T>C (p.Asp685=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193141A>T | CA341373420 | DPYD,DPYD-AS1 | c.2550T>A (p.Asp850Glu) n.65-72273A>T c.2334T>A (p.Asp778Glu) c.2439T>A (p.Asp813Glu) c.2055T>A (p.Asp685Glu) | |
1 | g.97193142T>A | CA341373421 | DPYD,DPYD-AS1 | c.2549A>T (p.Asp850Val) n.65-72272T>A c.2333A>T (p.Asp778Val) c.2438A>T (p.Asp813Val) c.2054A>T (p.Asp685Val) | |
1 | g.97193142T>C | CA963009 | DPYD,DPYD-AS1 | c.2549A>G (p.Asp850Gly) n.65-72272T>C c.2333A>G (p.Asp778Gly) c.2438A>G (p.Asp813Gly) c.2054A>G (p.Asp685Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193142T>G | CA341373422 | DPYD,DPYD-AS1 | c.2549A>C (p.Asp850Ala) n.65-72272T>G c.2333A>C (p.Asp778Ala) c.2438A>C (p.Asp813Ala) c.2054A>C (p.Asp685Ala) | gnomAD v4 |
1 | g.97193142T= | CA1182758264 | DPYD,DPYD-AS1 | c.2549A= (p.Asp850=) n.65-72272T= c.2333A= (p.Asp778=) c.2438A= (p.Asp813=) c.2054A= (p.Asp685=) | |
1 | g.97193143C>A | CA341373423 | DPYD,DPYD-AS1 | c.2548G>T (p.Asp850Tyr) n.65-72271C>A c.2332G>T (p.Asp778Tyr) c.2437G>T (p.Asp813Tyr) c.2053G>T (p.Asp685Tyr) | |
1 | g.97193143C= | CA1182758265 | DPYD,DPYD-AS1 | c.2548G= (p.Asp850=) n.65-72271C= c.2332G= (p.Asp778=) c.2437G= (p.Asp813=) c.2053G= (p.Asp685=) | |
1 | g.97193143C>G | CA341373424 | DPYD,DPYD-AS1 | c.2548G>C (p.Asp850His) n.65-72271C>G c.2332G>C (p.Asp778His) c.2437G>C (p.Asp813His) c.2053G>C (p.Asp685His) | |
1 | g.97193143C>T | CA963010 | DPYD,DPYD-AS1 | c.2548G>A (p.Asp850Asn) n.65-72271C>T c.2332G>A (p.Asp778Asn) c.2437G>A (p.Asp813Asn) c.2053G>A (p.Asp685Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97193145del | CA2831039320 | DPYD,DPYD-AS1 | c.2548del (p.Asp850MetfsTer8) n.65-72269del c.2332del (p.Asp778MetfsTer8) c.2437del (p.Asp813MetfsTer8) c.2053del (p.Asp685MetfsTer8) | |
1 | g.97193144C>A | CA341373425 | DPYD,DPYD-AS1 | c.2547G>T (p.Trp849Cys) n.65-72270C>A c.2331G>T (p.Trp777Cys) c.2436G>T (p.Trp812Cys) c.2052G>T (p.Trp684Cys) | |
1 | g.97193144C>G | CA341373426 | DPYD,DPYD-AS1 | c.2547G>C (p.Trp849Cys) n.65-72270C>G c.2331G>C (p.Trp777Cys) c.2436G>C (p.Trp812Cys) c.2052G>C (p.Trp684Cys) | |
1 | g.97193144C>T | CA341373427 | DPYD,DPYD-AS1 | c.2547G>A (p.Trp849Ter) n.65-72270C>T c.2331G>A (p.Trp777Ter) c.2436G>A (p.Trp812Ter) c.2052G>A (p.Trp684Ter) | gnomAD v4 |
1 | g.97193145C>A | CA341373430 | DPYD,DPYD-AS1 | c.2546G>T (p.Trp849Leu) n.65-72269C>A c.2330G>T (p.Trp777Leu) c.2435G>T (p.Trp812Leu) c.2051G>T (p.Trp684Leu) | COSMIC |
1 | g.97193145C>G | CA341373429 | DPYD,DPYD-AS1 | c.2546G>C (p.Trp849Ser) n.65-72269C>G c.2330G>C (p.Trp777Ser) c.2435G>C (p.Trp812Ser) c.2051G>C (p.Trp684Ser) | |
1 | g.97193145C>T | CA341373428 | DPYD,DPYD-AS1 | c.2546G>A (p.Trp849Ter) n.65-72269C>T c.2330G>A (p.Trp777Ter) c.2435G>A (p.Trp812Ter) c.2051G>A (p.Trp684Ter) | gnomAD v4 |
1 | g.97193146A>C | CA341373433 | DPYD,DPYD-AS1 | c.2545T>G (p.Trp849Gly) n.65-72268A>C c.2329T>G (p.Trp777Gly) c.2434T>G (p.Trp812Gly) c.2050T>G (p.Trp684Gly) | |
1 | g.97193146A>G | CA341373431 | DPYD,DPYD-AS1 | c.2545T>C (p.Trp849Arg) n.65-72268A>G c.2329T>C (p.Trp777Arg) c.2434T>C (p.Trp812Arg) c.2050T>C (p.Trp684Arg) | |
1 | g.97193146A>T | CA341373432 | DPYD,DPYD-AS1 | c.2545T>A (p.Trp849Arg) n.65-72268A>T c.2329T>A (p.Trp777Arg) c.2434T>A (p.Trp812Arg) c.2050T>A (p.Trp684Arg) | |
1 | g.97193147G>A | CA419137109 | DPYD,DPYD-AS1 | c.2544C>T (p.Asp848=) n.65-72267G>A c.2328C>T (p.Asp776=) c.2433C>T (p.Asp811=) c.2049C>T (p.Asp683=) | |
1 | g.97193147G>C | CA341373434 | DPYD,DPYD-AS1 | c.2544C>G (p.Asp848Glu) n.65-72267G>C c.2328C>G (p.Asp776Glu) c.2433C>G (p.Asp811Glu) c.2049C>G (p.Asp683Glu) | |
1 | g.97193147G>T | CA341373435 | DPYD,DPYD-AS1 | c.2544C>A (p.Asp848Glu) n.65-72267G>T c.2328C>A (p.Asp776Glu) c.2433C>A (p.Asp811Glu) c.2049C>A (p.Asp683Glu) | |
1 | g.97193148T>A | CA341373436 | DPYD,DPYD-AS1 | c.2543A>T (p.Asp848Val) n.65-72266T>A c.2327A>T (p.Asp776Val) c.2432A>T (p.Asp811Val) c.2048A>T (p.Asp683Val) | |
1 | g.97193148T>C | CA341373437 | DPYD,DPYD-AS1 | c.2543A>G (p.Asp848Gly) n.65-72266T>C c.2327A>G (p.Asp776Gly) c.2432A>G (p.Asp811Gly) c.2048A>G (p.Asp683Gly) | |
1 | g.97193148T>G | CA341373438 | DPYD,DPYD-AS1 | c.2543A>C (p.Asp848Ala) n.65-72266T>G c.2327A>C (p.Asp776Ala) c.2432A>C (p.Asp811Ala) c.2048A>C (p.Asp683Ala) | |
1 | g.97193149C>A | CA341373439 | DPYD,DPYD-AS1 | c.2542G>T (p.Asp848Tyr) n.65-72265C>A c.2326G>T (p.Asp776Tyr) c.2431G>T (p.Asp811Tyr) c.2047G>T (p.Asp683Tyr) | gnomAD v4 |
1 | g.97193149C= | CA1182758266 | DPYD,DPYD-AS1 | c.2542G= (p.Asp848=) n.65-72265C= c.2326G= (p.Asp776=) c.2431G= (p.Asp811=) c.2047G= (p.Asp683=) | |
1 | g.97193149C>G | CA341373440 | DPYD,DPYD-AS1 | c.2542G>C (p.Asp848His) n.65-72265C>G c.2326G>C (p.Asp776His) c.2431G>C (p.Asp811His) c.2047G>C (p.Asp683His) | |
1 | g.97193149C>T | CA341373441 | DPYD,DPYD-AS1 | c.2542G>A (p.Asp848Asn) n.65-72265C>T c.2326G>A (p.Asp776Asn) c.2431G>A (p.Asp811Asn) c.2047G>A (p.Asp683Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.97193150T>A | CA341373442 | DPYD,DPYD-AS1 | c.2541A>T (p.Gln847His) n.65-72264T>A c.2325A>T (p.Gln775His) c.2430A>T (p.Gln810His) c.2046A>T (p.Gln682His) | |
1 | g.97193150T>C | CA419137110 | DPYD,DPYD-AS1 | c.2541A>G (p.Gln847=) n.65-72264T>C c.2325A>G (p.Gln775=) c.2430A>G (p.Gln810=) c.2046A>G (p.Gln682=) | |
1 | g.97193150T>G | CA341373443 | DPYD,DPYD-AS1 | c.2541A>C (p.Gln847His) n.65-72264T>G c.2325A>C (p.Gln775His) c.2430A>C (p.Gln810His) c.2046A>C (p.Gln682His) | |
1 | g.97193151T>A | CA341373446 | DPYD,DPYD-AS1 | c.2540A>T (p.Gln847Leu) n.65-72263T>A c.2324A>T (p.Gln775Leu) c.2429A>T (p.Gln810Leu) c.2045A>T (p.Gln682Leu) | |
1 | g.97193151T>C | CA341373445 | DPYD,DPYD-AS1 | c.2540A>G (p.Gln847Arg) n.65-72263T>C c.2324A>G (p.Gln775Arg) c.2429A>G (p.Gln810Arg) c.2045A>G (p.Gln682Arg) | |
1 | g.97193151T>G | CA341373444 | DPYD,DPYD-AS1 | c.2540A>C (p.Gln847Pro) n.65-72263T>G c.2324A>C (p.Gln775Pro) c.2429A>C (p.Gln810Pro) c.2045A>C (p.Gln682Pro) | |
1 | g.97193152G>A | CA341373447 | DPYD,DPYD-AS1 | c.2539C>T (p.Gln847Ter) n.65-72262G>A c.2323C>T (p.Gln775Ter) c.2428C>T (p.Gln810Ter) c.2044C>T (p.Gln682Ter) | |
1 | g.97193152G>C | CA341373448 | DPYD,DPYD-AS1 | c.2539C>G (p.Gln847Glu) n.65-72262G>C c.2323C>G (p.Gln775Glu) c.2428C>G (p.Gln810Glu) c.2044C>G (p.Gln682Glu) | |
1 | g.97193152G>T | CA341373449 | DPYD,DPYD-AS1 | c.2539C>A (p.Gln847Lys) n.65-72262G>T c.2323C>A (p.Gln775Lys) c.2428C>A (p.Gln810Lys) c.2044C>A (p.Gln682Lys) | |
1 | g.97193153T>A | CA419137111 | DPYD,DPYD-AS1 | c.2538A>T (p.Leu846=) n.65-72261T>A c.2322A>T (p.Leu774=) c.2427A>T (p.Leu809=) c.2043A>T (p.Leu681=) | |
1 | g.97193153T>C | CA419137113 | DPYD,DPYD-AS1 | c.2538A>G (p.Leu846=) n.65-72261T>C c.2322A>G (p.Leu774=) c.2427A>G (p.Leu809=) c.2043A>G (p.Leu681=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193153T>G | CA419137115 | DPYD,DPYD-AS1 | c.2538A>C (p.Leu846=) n.65-72261T>G c.2322A>C (p.Leu774=) c.2427A>C (p.Leu809=) c.2043A>C (p.Leu681=) | |
1 | g.97193153T= | CA1182758267 | DPYD,DPYD-AS1 | c.2538A= (p.Leu846=) n.65-72261T= c.2322A= (p.Leu774=) c.2427A= (p.Leu809=) c.2043A= (p.Leu681=) | |
1 | g.97193154A>C | CA341373450 | DPYD,DPYD-AS1 | c.2537T>G (p.Leu846Arg) n.65-72260A>C c.2321T>G (p.Leu774Arg) c.2426T>G (p.Leu809Arg) c.2042T>G (p.Leu681Arg) | |
1 | g.97193154A>G | CA341373451 | DPYD,DPYD-AS1 | c.2537T>C (p.Leu846Pro) n.65-72260A>G c.2321T>C (p.Leu774Pro) c.2426T>C (p.Leu809Pro) c.2042T>C (p.Leu681Pro) | |
1 | g.97193154A>T | CA341373452 | DPYD,DPYD-AS1 | c.2537T>A (p.Leu846Gln) n.65-72260A>T c.2321T>A (p.Leu774Gln) c.2426T>A (p.Leu809Gln) c.2042T>A (p.Leu681Gln) | |
1 | g.97193155G>A | CA419137116 | DPYD,DPYD-AS1 | c.2536C>T (p.Leu846=) n.65-72259G>A c.2320C>T (p.Leu774=) c.2425C>T (p.Leu809=) c.2041C>T (p.Leu681=) | gnomAD v4 |
1 | g.97193155G>C | CA341373453 | DPYD,DPYD-AS1 | c.2536C>G (p.Leu846Val) n.65-72259G>C c.2320C>G (p.Leu774Val) c.2425C>G (p.Leu809Val) c.2041C>G (p.Leu681Val) | |
1 | g.97193155G>T | CA341373454 | DPYD,DPYD-AS1 | c.2536C>A (p.Leu846Ile) n.65-72259G>T c.2320C>A (p.Leu774Ile) c.2425C>A (p.Leu809Ile) c.2041C>A (p.Leu681Ile) | |
1 | g.97193156T>A | CA341373455 | DPYD,DPYD-AS1 | c.2535A>T (p.Glu845Asp) n.65-72258T>A c.2319A>T (p.Glu773Asp) c.2424A>T (p.Glu808Asp) c.2040A>T (p.Glu680Asp) | gnomAD v4 |
1 | g.97193156T>C | CA419137117 | DPYD,DPYD-AS1 | c.2535A>G (p.Glu845=) n.65-72258T>C c.2319A>G (p.Glu773=) c.2424A>G (p.Glu808=) c.2040A>G (p.Glu680=) | gnomAD v4 |
1 | g.97193156T>G | CA341373456 | DPYD,DPYD-AS1 | c.2535A>C (p.Glu845Asp) n.65-72258T>G c.2319A>C (p.Glu773Asp) c.2424A>C (p.Glu808Asp) c.2040A>C (p.Glu680Asp) | |
1 | g.97193157T>A | CA341373457 | DPYD,DPYD-AS1 | c.2534A>T (p.Glu845Val) n.65-72257T>A c.2318A>T (p.Glu773Val) c.2423A>T (p.Glu808Val) c.2039A>T (p.Glu680Val) | |
1 | g.97193157T>C | CA341373458 | DPYD,DPYD-AS1 | c.2534A>G (p.Glu845Gly) n.65-72257T>C c.2318A>G (p.Glu773Gly) c.2423A>G (p.Glu808Gly) c.2039A>G (p.Glu680Gly) | |
1 | g.97193157T>G | CA341373459 | DPYD,DPYD-AS1 | c.2534A>C (p.Glu845Ala) n.65-72257T>G c.2318A>C (p.Glu773Ala) c.2423A>C (p.Glu808Ala) c.2039A>C (p.Glu680Ala) | gnomAD v4 |
1 | g.97193158C>A | CA341373461 | DPYD,DPYD-AS1 | c.2533G>T (p.Glu845Ter) n.65-72256C>A c.2317G>T (p.Glu773Ter) c.2422G>T (p.Glu808Ter) c.2038G>T (p.Glu680Ter) | |
1 | g.97193158C= | CA1182758268 | DPYD,DPYD-AS1 | c.2533G= (p.Glu845=) n.65-72256C= c.2317G= (p.Glu773=) c.2422G= (p.Glu808=) c.2038G= (p.Glu680=) | |
1 | g.97193158C>G | CA341373462 | DPYD,DPYD-AS1 | c.2533G>C (p.Glu845Gln) n.65-72256C>G c.2317G>C (p.Glu773Gln) c.2422G>C (p.Glu808Gln) c.2038G>C (p.Glu680Gln) | |
1 | g.97193158C>T | CA341373460 | DPYD,DPYD-AS1 | c.2533G>A (p.Glu845Lys) n.65-72256C>T c.2317G>A (p.Glu773Lys) c.2422G>A (p.Glu808Lys) c.2038G>A (p.Glu680Lys) | dbSNP gnomAD v4 |
1 | g.97193159T>A | CA341373463 | DPYD,DPYD-AS1 | c.2532A>T (p.Glu844Asp) n.65-72255T>A c.2316A>T (p.Glu772Asp) c.2421A>T (p.Glu807Asp) c.2037A>T (p.Glu679Asp) | |
1 | g.97193159T>C | CA228084 | DPYD,DPYD-AS1 | c.2532A>G (p.Glu844=) n.65-72255T>C c.2316A>G (p.Glu772=) c.2421A>G (p.Glu807=) c.2037A>G (p.Glu679=) | ClinVar dbSNP COSMIC |
1 | g.97193159T>G | CA963011 | DPYD,DPYD-AS1 | c.2532A>C (p.Glu844Asp) n.65-72255T>G c.2316A>C (p.Glu772Asp) c.2421A>C (p.Glu807Asp) c.2037A>C (p.Glu679Asp) | dbSNP ExAC gnomAD v2 |
1 | g.97193159T= | CA1148224414 | DPYD,DPYD-AS1 | c.2532A= (p.Glu844=) n.65-72255T= c.2316A= (p.Glu772=) c.2421A= (p.Glu807=) c.2037A= (p.Glu679=) | |
1 | g.97193160T>A | CA341373464 | DPYD,DPYD-AS1 | c.2531A>T (p.Glu844Val) n.65-72254T>A c.2315A>T (p.Glu772Val) c.2420A>T (p.Glu807Val) c.2036A>T (p.Glu679Val) | |
1 | g.97193160T>C | CA341373466 | DPYD,DPYD-AS1 | c.2531A>G (p.Glu844Gly) n.65-72254T>C c.2315A>G (p.Glu772Gly) c.2420A>G (p.Glu807Gly) c.2036A>G (p.Glu679Gly) | |
1 | g.97193160T>G | CA341373465 | DPYD,DPYD-AS1 | c.2531A>C (p.Glu844Ala) n.65-72254T>G c.2315A>C (p.Glu772Ala) c.2420A>C (p.Glu807Ala) c.2036A>C (p.Glu679Ala) | gnomAD v4 |
1 | g.97193161C>A | CA341373467 | DPYD,DPYD-AS1 | c.2530G>T (p.Glu844Ter) n.65-72253C>A c.2314G>T (p.Glu772Ter) c.2419G>T (p.Glu807Ter) c.2035G>T (p.Glu679Ter) | |
1 | g.97193161C>G | CA341373468 | DPYD,DPYD-AS1 | c.2530G>C (p.Glu844Gln) n.65-72253C>G c.2314G>C (p.Glu772Gln) c.2419G>C (p.Glu807Gln) c.2035G>C (p.Glu679Gln) | |
1 | g.97193161C>T | CA341373469 | DPYD,DPYD-AS1 | c.2530G>A (p.Glu844Lys) n.65-72253C>T c.2314G>A (p.Glu772Lys) c.2419G>A (p.Glu807Lys) c.2035G>A (p.Glu679Lys) | |
1 | g.97193162A>C | CA341373470 | DPYD,DPYD-AS1 | c.2529T>G (p.Ile843Met) n.65-72252A>C c.2313T>G (p.Ile771Met) c.2418T>G (p.Ile806Met) c.2034T>G (p.Ile678Met) | |
1 | g.97193162A>G | CA419137118 | DPYD,DPYD-AS1 | c.2529T>C (p.Ile843=) n.65-72252A>G c.2313T>C (p.Ile771=) c.2418T>C (p.Ile806=) c.2034T>C (p.Ile678=) | |
1 | g.97193162A>T | CA419137119 | DPYD,DPYD-AS1 | c.2529T>A (p.Ile843=) n.65-72252A>T c.2313T>A (p.Ile771=) c.2418T>A (p.Ile806=) c.2034T>A (p.Ile678=) | |
1 | g.97193163A= | CA1147577214 | DPYD,DPYD-AS1 | c.2528T= (p.Ile843=) n.65-72251A= c.2312T= (p.Ile771=) c.2417T= (p.Ile806=) c.2033T= (p.Ile678=) | |
1 | g.97193163A>C | CA341373471 | DPYD,DPYD-AS1 | c.2528T>G (p.Ile843Ser) n.65-72251A>C c.2312T>G (p.Ile771Ser) c.2417T>G (p.Ile806Ser) c.2033T>G (p.Ile678Ser) | |
1 | g.97193163A>G | CA963012 | DPYD,DPYD-AS1 | c.2528T>C (p.Ile843Thr) n.65-72251A>G c.2312T>C (p.Ile771Thr) c.2417T>C (p.Ile806Thr) c.2033T>C (p.Ile678Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193163A>T | CA341373472 | DPYD,DPYD-AS1 | c.2528T>A (p.Ile843Asn) n.65-72251A>T c.2312T>A (p.Ile771Asn) c.2417T>A (p.Ile806Asn) c.2033T>A (p.Ile678Asn) | gnomAD v4 |
1 | g.97193164T>A | CA341373473 | DPYD,DPYD-AS1 | c.2527A>T (p.Ile843Phe) n.65-72250T>A c.2311A>T (p.Ile771Phe) c.2416A>T (p.Ile806Phe) c.2032A>T (p.Ile678Phe) | |
1 | g.97193164T>C | CA963013 | DPYD,DPYD-AS1 | c.2527A>G (p.Ile843Val) n.65-72250T>C c.2311A>G (p.Ile771Val) c.2416A>G (p.Ile806Val) c.2032A>G (p.Ile678Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193164T>G | CA341373474 | DPYD,DPYD-AS1 | c.2527A>C (p.Ile843Leu) n.65-72250T>G c.2311A>C (p.Ile771Leu) c.2416A>C (p.Ile806Leu) c.2032A>C (p.Ile678Leu) | |
1 | g.97193164T= | CA1143836488 | DPYD,DPYD-AS1 | c.2527A= (p.Ile843=) n.65-72250T= c.2311A= (p.Ile771=) c.2416A= (p.Ile806=) c.2032A= (p.Ile678=) | |
1 | g.97193165G>A | CA419137120 | DPYD,DPYD-AS1 | c.2526C>T (p.Ser842=) n.65-72249G>A c.2310C>T (p.Ser770=) c.2415C>T (p.Ser805=) c.2031C>T (p.Ser677=) | |
1 | g.97193165G>C | CA341373476 | DPYD,DPYD-AS1 | c.2526C>G (p.Ser842Arg) n.65-72249G>C c.2310C>G (p.Ser770Arg) c.2415C>G (p.Ser805Arg) c.2031C>G (p.Ser677Arg) | |
1 | g.97193165G>T | CA341373475 | DPYD,DPYD-AS1 | c.2526C>A (p.Ser842Arg) n.65-72249G>T c.2310C>A (p.Ser770Arg) c.2415C>A (p.Ser805Arg) c.2031C>A (p.Ser677Arg) | |
1 | g.97193166C>A | CA10610857 | DPYD,DPYD-AS1 | c.2525G>T (p.Ser842Ile) n.65-72248C>A c.2309G>T (p.Ser770Ile) c.2414G>T (p.Ser805Ile) c.2030G>T (p.Ser677Ile) | ClinVar dbSNP |
1 | g.97193166C= | CA1182758269 | DPYD,DPYD-AS1 | c.2525G= (p.Ser842=) n.65-72248C= c.2309G= (p.Ser770=) c.2414G= (p.Ser805=) c.2030G= (p.Ser677=) | |
1 | g.97193166C>G | CA341373477 | DPYD,DPYD-AS1 | c.2525G>C (p.Ser842Thr) n.65-72248C>G c.2309G>C (p.Ser770Thr) c.2414G>C (p.Ser805Thr) c.2030G>C (p.Ser677Thr) | |
1 | g.97193166C>T | CA341373478 | DPYD,DPYD-AS1 | c.2525G>A (p.Ser842Asn) n.65-72248C>T c.2309G>A (p.Ser770Asn) c.2414G>A (p.Ser805Asn) c.2030G>A (p.Ser677Asn) | gnomAD v4 |
1 | g.97193167T>A | CA341373479 | DPYD,DPYD-AS1 | c.2524A>T (p.Ser842Cys) n.65-72247T>A c.2308A>T (p.Ser770Cys) c.2413A>T (p.Ser805Cys) c.2029A>T (p.Ser677Cys) | |
1 | g.97193167T>C | CA341373480 | DPYD,DPYD-AS1 | c.2524A>G (p.Ser842Gly) n.65-72247T>C c.2308A>G (p.Ser770Gly) c.2413A>G (p.Ser805Gly) c.2029A>G (p.Ser677Gly) | |
1 | g.97193167T>G | CA341373481 | DPYD,DPYD-AS1 | c.2524A>C (p.Ser842Arg) n.65-72247T>G c.2308A>C (p.Ser770Arg) c.2413A>C (p.Ser805Arg) c.2029A>C (p.Ser677Arg) | |
1 | g.97193170dup | CA2842544487 | DPYD,DPYD-AS1 | c.2524dup (p.Ser842LysfsTer3) n.65-72244dup c.2308dup (p.Ser770LysfsTer3) c.2413dup (p.Ser805LysfsTer3) c.2029dup (p.Ser677LysfsTer3) | |
1 | g.97193168T>A | CA341373482 | DPYD,DPYD-AS1 | c.2523A>T (p.Lys841Asn) n.65-72246T>A c.2307A>T (p.Lys769Asn) c.2412A>T (p.Lys804Asn) c.2028A>T (p.Lys676Asn) | |
1 | g.97193168T>C | CA419137121 | DPYD,DPYD-AS1 | c.2523A>G (p.Lys841=) n.65-72246T>C c.2307A>G (p.Lys769=) c.2412A>G (p.Lys804=) c.2028A>G (p.Lys676=) | |
1 | g.97193168T>G | CA341373483 | DPYD,DPYD-AS1 | c.2523A>C (p.Lys841Asn) n.65-72246T>G c.2307A>C (p.Lys769Asn) c.2412A>C (p.Lys804Asn) c.2028A>C (p.Lys676Asn) | |
1 | g.97193169T>A | CA341373484 | DPYD,DPYD-AS1 | c.2522A>T (p.Lys841Ile) n.65-72245T>A c.2306A>T (p.Lys769Ile) c.2411A>T (p.Lys804Ile) c.2027A>T (p.Lys676Ile) | COSMIC |
1 | g.97193169T>C | CA341373485 | DPYD,DPYD-AS1 | c.2522A>G (p.Lys841Arg) n.65-72245T>C c.2306A>G (p.Lys769Arg) c.2411A>G (p.Lys804Arg) c.2027A>G (p.Lys676Arg) | |
1 | g.97193169T>G | CA341373486 | DPYD,DPYD-AS1 | c.2522A>C (p.Lys841Thr) n.65-72245T>G c.2306A>C (p.Lys769Thr) c.2411A>C (p.Lys804Thr) c.2027A>C (p.Lys676Thr) | |
1 | g.97193170T>A | CA341373488 | DPYD,DPYD-AS1 | c.2521A>T (p.Lys841Ter) n.65-72244T>A c.2305A>T (p.Lys769Ter) c.2410A>T (p.Lys804Ter) c.2026A>T (p.Lys676Ter) | |
1 | g.97193170T>C | CA341373489 | DPYD,DPYD-AS1 | c.2521A>G (p.Lys841Glu) n.65-72244T>C c.2305A>G (p.Lys769Glu) c.2410A>G (p.Lys804Glu) c.2026A>G (p.Lys676Glu) | |
1 | g.97193170T>G | CA341373487 | DPYD,DPYD-AS1 | c.2521A>C (p.Lys841Gln) n.65-72244T>G c.2305A>C (p.Lys769Gln) c.2410A>C (p.Lys804Gln) c.2026A>C (p.Lys676Gln) | |
1 | g.97193171C>A | CA419137122 | DPYD,DPYD-AS1 | c.2520G>T (p.Leu840=) n.65-72243C>A c.2304G>T (p.Leu768=) c.2409G>T (p.Leu803=) c.2025G>T (p.Leu675=) | |
1 | g.97193171C>G | CA419137123 | DPYD,DPYD-AS1 | c.2520G>C (p.Leu840=) n.65-72243C>G c.2304G>C (p.Leu768=) c.2409G>C (p.Leu803=) c.2025G>C (p.Leu675=) | |
1 | g.97193171C>T | CA419137124 | DPYD,DPYD-AS1 | c.2520G>A (p.Leu840=) n.65-72243C>T c.2304G>A (p.Leu768=) c.2409G>A (p.Leu803=) c.2025G>A (p.Leu675=) | COSMIC |
1 | g.97193172A>C | CA341373490 | DPYD,DPYD-AS1 | c.2519T>G (p.Leu840Arg) n.65-72242A>C c.2303T>G (p.Leu768Arg) c.2408T>G (p.Leu803Arg) c.2024T>G (p.Leu675Arg) | |
1 | g.97193172A>G | CA341373491 | DPYD,DPYD-AS1 | c.2519T>C (p.Leu840Pro) n.65-72242A>G c.2303T>C (p.Leu768Pro) c.2408T>C (p.Leu803Pro) c.2024T>C (p.Leu675Pro) | |
1 | g.97193172A>T | CA341373492 | DPYD,DPYD-AS1 | c.2519T>A (p.Leu840Gln) n.65-72242A>T c.2303T>A (p.Leu768Gln) c.2408T>A (p.Leu803Gln) c.2024T>A (p.Leu675Gln) | |
1 | g.97193173G>A | CA419137125 | DPYD,DPYD-AS1 | c.2518C>T (p.Leu840=) n.65-72241G>A c.2302C>T (p.Leu768=) c.2407C>T (p.Leu803=) c.2023C>T (p.Leu675=) | |
1 | g.97193173G>C | CA341373493 | DPYD,DPYD-AS1 | c.2518C>G (p.Leu840Val) n.65-72241G>C c.2302C>G (p.Leu768Val) c.2407C>G (p.Leu803Val) c.2023C>G (p.Leu675Val) | gnomAD v4 |
1 | g.97193173G>T | CA341373494 | DPYD,DPYD-AS1 | c.2518C>A (p.Leu840Met) n.65-72241G>T c.2302C>A (p.Leu768Met) c.2407C>A (p.Leu803Met) c.2023C>A (p.Leu675Met) | |
1 | g.97193174A>C | CA341373496 | DPYD,DPYD-AS1 | c.2517T>G (p.Tyr839Ter) n.65-72240A>C c.2301T>G (p.Tyr767Ter) c.2406T>G (p.Tyr802Ter) c.2022T>G (p.Tyr674Ter) | |
1 | g.97193174A>G | CA419137127 | DPYD,DPYD-AS1 | c.2517T>C (p.Tyr839=) n.65-72240A>G c.2301T>C (p.Tyr767=) c.2406T>C (p.Tyr802=) c.2022T>C (p.Tyr674=) | |
1 | g.97193174A>T | CA341373495 | DPYD,DPYD-AS1 | c.2517T>A (p.Tyr839Ter) n.65-72240A>T c.2301T>A (p.Tyr767Ter) c.2406T>A (p.Tyr802Ter) c.2022T>A (p.Tyr674Ter) | |
1 | g.97193175T>A | CA341373497 | DPYD,DPYD-AS1 | c.2516A>T (p.Tyr839Phe) n.65-72239T>A c.2300A>T (p.Tyr767Phe) c.2405A>T (p.Tyr802Phe) c.2021A>T (p.Tyr674Phe) | COSMIC |
1 | g.97193175T>C | CA341373498 | DPYD,DPYD-AS1 | c.2516A>G (p.Tyr839Cys) n.65-72239T>C c.2300A>G (p.Tyr767Cys) c.2405A>G (p.Tyr802Cys) c.2021A>G (p.Tyr674Cys) | |
1 | g.97193175T>G | CA341373499 | DPYD,DPYD-AS1 | c.2516A>C (p.Tyr839Ser) n.65-72239T>G c.2300A>C (p.Tyr767Ser) c.2405A>C (p.Tyr802Ser) c.2021A>C (p.Tyr674Ser) | |
1 | g.97193176A>C | CA341373500 | DPYD,DPYD-AS1 | c.2515T>G (p.Tyr839Asp) n.65-72238A>C c.2299T>G (p.Tyr767Asp) c.2404T>G (p.Tyr802Asp) c.2020T>G (p.Tyr674Asp) | |
1 | g.97193176A>G | CA341373501 | DPYD,DPYD-AS1 | c.2515T>C (p.Tyr839His) n.65-72238A>G c.2299T>C (p.Tyr767His) c.2404T>C (p.Tyr802His) c.2020T>C (p.Tyr674His) | |
1 | g.97193176A>T | CA341373502 | DPYD,DPYD-AS1 | c.2515T>A (p.Tyr839Asn) n.65-72238A>T c.2299T>A (p.Tyr767Asn) c.2404T>A (p.Tyr802Asn) c.2020T>A (p.Tyr674Asn) | |
1 | g.97193177A>C | CA419137128 | DPYD,DPYD-AS1 | c.2514T>G (p.Leu838=) n.65-72237A>C c.2298T>G (p.Leu766=) c.2403T>G (p.Leu801=) c.2019T>G (p.Leu673=) | |
1 | g.97193177A>G | CA419137129 | DPYD,DPYD-AS1 | c.2514T>C (p.Leu838=) n.65-72237A>G c.2298T>C (p.Leu766=) c.2403T>C (p.Leu801=) c.2019T>C (p.Leu673=) | |
1 | g.97193177A>T | CA419137130 | DPYD,DPYD-AS1 | c.2514T>A (p.Leu838=) n.65-72237A>T c.2298T>A (p.Leu766=) c.2403T>A (p.Leu801=) c.2019T>A (p.Leu673=) | |
1 | g.97193178A>C | CA341373503 | DPYD,DPYD-AS1 | c.2513T>G (p.Leu838Arg) n.65-72236A>C c.2297T>G (p.Leu766Arg) c.2402T>G (p.Leu801Arg) c.2018T>G (p.Leu673Arg) | |
1 | g.97193178A>G | CA341373505 | DPYD,DPYD-AS1 | c.2513T>C (p.Leu838Pro) n.65-72236A>G c.2297T>C (p.Leu766Pro) c.2402T>C (p.Leu801Pro) c.2018T>C (p.Leu673Pro) | |
1 | g.97193178A>T | CA341373504 | DPYD,DPYD-AS1 | c.2513T>A (p.Leu838His) n.65-72236A>T c.2297T>A (p.Leu766His) c.2402T>A (p.Leu801His) c.2018T>A (p.Leu673His) | |
1 | g.97193179G>A | CA341373506 | DPYD,DPYD-AS1 | c.2512C>T (p.Leu838Phe) n.65-72235G>A c.2296C>T (p.Leu766Phe) c.2401C>T (p.Leu801Phe) c.2017C>T (p.Leu673Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193179G>C | CA341373507 | DPYD,DPYD-AS1 | c.2512C>G (p.Leu838Val) n.65-72235G>C c.2296C>G (p.Leu766Val) c.2401C>G (p.Leu801Val) c.2017C>G (p.Leu673Val) | |
1 | g.97193179G= | CA1182758270 | DPYD,DPYD-AS1 | c.2512C= (p.Leu838=) n.65-72235G= c.2296C= (p.Leu766=) c.2401C= (p.Leu801=) c.2017C= (p.Leu673=) | |
1 | g.97193179G>T | CA341373508 | DPYD,DPYD-AS1 | c.2512C>A (p.Leu838Ile) n.65-72235G>T c.2296C>A (p.Leu766Ile) c.2401C>A (p.Leu801Ile) c.2017C>A (p.Leu673Ile) | |
1 | g.97193180C>A | CA963014 | DPYD,DPYD-AS1 | c.2511G>T (p.Leu837=) n.65-72234C>A c.2295G>T (p.Leu765=) c.2400G>T (p.Leu800=) c.2016G>T (p.Leu672=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193180C= | CA1182758271 | DPYD,DPYD-AS1 | c.2511G= (p.Leu837=) n.65-72234C= c.2295G= (p.Leu765=) c.2400G= (p.Leu800=) c.2016G= (p.Leu672=) | |
1 | g.97193180C>G | CA419137144 | DPYD,DPYD-AS1 | c.2511G>C (p.Leu837=) n.65-72234C>G c.2295G>C (p.Leu765=) c.2400G>C (p.Leu800=) c.2016G>C (p.Leu672=) | |
1 | g.97193180C>T | CA419137147 | DPYD,DPYD-AS1 | c.2511G>A (p.Leu837=) n.65-72234C>T c.2295G>A (p.Leu765=) c.2400G>A (p.Leu800=) c.2016G>A (p.Leu672=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193181A= | CA1148731722 | DPYD,DPYD-AS1 | c.2510T= (p.Leu837=) n.65-72233A= c.2294T= (p.Leu765=) c.2399T= (p.Leu800=) c.2015T= (p.Leu672=) | |
1 | g.97193181A>C | CA341373509 | DPYD,DPYD-AS1 | c.2510T>G (p.Leu837Arg) n.65-72233A>C c.2294T>G (p.Leu765Arg) c.2399T>G (p.Leu800Arg) c.2015T>G (p.Leu672Arg) | |
1 | g.97193181A>G | CA341373510 | DPYD,DPYD-AS1 | c.2510T>C (p.Leu837Pro) n.65-72233A>G c.2294T>C (p.Leu765Pro) c.2399T>C (p.Leu800Pro) c.2015T>C (p.Leu672Pro) | gnomAD v4 |
1 | g.97193181A>T | CA963015 | DPYD,DPYD-AS1 | c.2510T>A (p.Leu837Gln) n.65-72233A>T c.2294T>A (p.Leu765Gln) c.2399T>A (p.Leu800Gln) c.2015T>A (p.Leu672Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97193182G>A | CA419137157 | DPYD,DPYD-AS1 | c.2509C>T (p.Leu837=) n.65-72232G>A c.2293C>T (p.Leu765=) c.2398C>T (p.Leu800=) c.2014C>T (p.Leu672=) | dbSNP |
1 | g.97193182G>C | CA341373511 | DPYD,DPYD-AS1 | c.2509C>G (p.Leu837Val) n.65-72232G>C c.2293C>G (p.Leu765Val) c.2398C>G (p.Leu800Val) c.2014C>G (p.Leu672Val) | |
1 | g.97193182G= | CA1182758273 | DPYD,DPYD-AS1 | c.2509C= (p.Leu837=) n.65-72232G= c.2293C= (p.Leu765=) c.2398C= (p.Leu800=) c.2014C= (p.Leu672=) | |
1 | g.97193182G>T | CA341373512 | DPYD,DPYD-AS1 | c.2509C>A (p.Leu837Met) n.65-72232G>T c.2293C>A (p.Leu765Met) c.2398C>A (p.Leu800Met) c.2014C>A (p.Leu672Met) | |
1 | g.97193184dup | CA1182758272 | DPYD,DPYD-AS1 | c.2509dup (p.Leu837ProfsTer8) n.65-72230dup c.2293dup (p.Leu765ProfsTer8) c.2398dup (p.Leu800ProfsTer8) c.2014dup (p.Leu672ProfsTer8) | dbSNP gnomAD v4 |
1 | g.97193183G>A | CA419137163 | DPYD,DPYD-AS1 | c.2508C>T (p.Ala836=) n.65-72231G>A c.2292C>T (p.Ala764=) c.2397C>T (p.Ala799=) c.2013C>T (p.Ala671=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193183G>C | CA419137167 | DPYD,DPYD-AS1 | c.2508C>G (p.Ala836=) n.65-72231G>C c.2292C>G (p.Ala764=) c.2397C>G (p.Ala799=) c.2013C>G (p.Ala671=) | |
1 | g.97193183G= | CA1182758274 | DPYD,DPYD-AS1 | c.2508C= (p.Ala836=) n.65-72231G= c.2292C= (p.Ala764=) c.2397C= (p.Ala799=) c.2013C= (p.Ala671=) | |
1 | g.97193183G>T | CA419137165 | DPYD,DPYD-AS1 | c.2508C>A (p.Ala836=) n.65-72231G>T c.2292C>A (p.Ala764=) c.2397C>A (p.Ala799=) c.2013C>A (p.Ala671=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193184G>A | CA341373513 | DPYD,DPYD-AS1 | c.2507C>T (p.Ala836Val) n.65-72230G>A c.2291C>T (p.Ala764Val) c.2396C>T (p.Ala799Val) c.2012C>T (p.Ala671Val) | |
1 | g.97193184G>C | CA341373514 | DPYD,DPYD-AS1 | c.2507C>G (p.Ala836Gly) n.65-72230G>C c.2291C>G (p.Ala764Gly) c.2396C>G (p.Ala799Gly) c.2012C>G (p.Ala671Gly) | |
1 | g.97193184G>T | CA341373515 | DPYD,DPYD-AS1 | c.2507C>A (p.Ala836Asp) n.65-72230G>T c.2291C>A (p.Ala764Asp) c.2396C>A (p.Ala799Asp) c.2012C>A (p.Ala671Asp) | |
1 | g.97193185C>A | CA341373517 | DPYD,DPYD-AS1 | c.2506G>T (p.Ala836Ser) n.65-72229C>A c.2290G>T (p.Ala764Ser) c.2395G>T (p.Ala799Ser) c.2011G>T (p.Ala671Ser) | |
1 | g.97193185C>G | CA341373518 | DPYD,DPYD-AS1 | c.2506G>C (p.Ala836Pro) n.65-72229C>G c.2290G>C (p.Ala764Pro) c.2395G>C (p.Ala799Pro) c.2011G>C (p.Ala671Pro) | |
1 | g.97193185C>T | CA341373516 | DPYD,DPYD-AS1 | c.2506G>A (p.Ala836Thr) n.65-72229C>T c.2290G>A (p.Ala764Thr) c.2395G>A (p.Ala799Thr) c.2011G>A (p.Ala671Thr) | |
1 | g.97193186T>A | CA341373520 | DPYD,DPYD-AS1 | c.2505A>T (p.Lys835Asn) n.65-72228T>A c.2289A>T (p.Lys763Asn) c.2394A>T (p.Lys798Asn) c.2010A>T (p.Lys670Asn) | |
1 | g.97193186T>C | CA419137182 | DPYD,DPYD-AS1 | c.2505A>G (p.Lys835=) n.65-72228T>C c.2289A>G (p.Lys763=) c.2394A>G (p.Lys798=) c.2010A>G (p.Lys670=) | |
1 | g.97193186T>G | CA341373519 | DPYD,DPYD-AS1 | c.2505A>C (p.Lys835Asn) n.65-72228T>G c.2289A>C (p.Lys763Asn) c.2394A>C (p.Lys798Asn) c.2010A>C (p.Lys670Asn) | |
1 | g.97193187T>A | CA341373521 | DPYD,DPYD-AS1 | c.2504A>T (p.Lys835Ile) n.65-72227T>A c.2288A>T (p.Lys763Ile) c.2393A>T (p.Lys798Ile) c.2009A>T (p.Lys670Ile) | |
1 | g.97193187T>C | CA341373522 | DPYD,DPYD-AS1 | c.2504A>G (p.Lys835Arg) n.65-72227T>C c.2288A>G (p.Lys763Arg) c.2393A>G (p.Lys798Arg) c.2009A>G (p.Lys670Arg) | |
1 | g.97193187T>G | CA341373523 | DPYD,DPYD-AS1 | c.2504A>C (p.Lys835Thr) n.65-72227T>G c.2288A>C (p.Lys763Thr) c.2393A>C (p.Lys798Thr) c.2009A>C (p.Lys670Thr) | |
1 | g.97193188T>A | CA341373524 | DPYD,DPYD-AS1 | c.2503A>T (p.Lys835Ter) n.65-72226T>A c.2287A>T (p.Lys763Ter) c.2392A>T (p.Lys798Ter) c.2008A>T (p.Lys670Ter) | |
1 | g.97193188T>C | CA341373525 | DPYD,DPYD-AS1 | c.2503A>G (p.Lys835Glu) n.65-72226T>C c.2287A>G (p.Lys763Glu) c.2392A>G (p.Lys798Glu) c.2008A>G (p.Lys670Glu) | |
1 | g.97193188T>G | CA341373526 | DPYD,DPYD-AS1 | c.2503A>C (p.Lys835Gln) n.65-72226T>G c.2287A>C (p.Lys763Gln) c.2392A>C (p.Lys798Gln) c.2008A>C (p.Lys670Gln) | |
1 | g.97193189G>A | CA963016 | DPYD,DPYD-AS1 | c.2502C>T (p.Leu834=) n.65-72225G>A c.2286C>T (p.Leu762=) c.2391C>T (p.Leu797=) c.2007C>T (p.Leu669=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97193189G>C | CA419137199 | DPYD,DPYD-AS1 | c.2502C>G (p.Leu834=) n.65-72225G>C c.2286C>G (p.Leu762=) c.2391C>G (p.Leu797=) c.2007C>G (p.Leu669=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.97193189G= | CA1182758275 | DPYD,DPYD-AS1 | c.2502C= (p.Leu834=) n.65-72225G= c.2286C= (p.Leu762=) c.2391C= (p.Leu797=) c.2007C= (p.Leu669=) | |
1 | g.97193189G>T | CA419137205 | DPYD,DPYD-AS1 | c.2502C>A (p.Leu834=) n.65-72225G>T c.2286C>A (p.Leu762=) c.2391C>A (p.Leu797=) c.2007C>A (p.Leu669=) | |
1 | g.97193190A>C | CA341373527 | DPYD,DPYD-AS1 | c.2501T>G (p.Leu834Arg) n.65-72224A>C c.2285T>G (p.Leu762Arg) c.2390T>G (p.Leu797Arg) c.2006T>G (p.Leu669Arg) | gnomAD v4 |
1 | g.97193190A>G | CA341373528 | DPYD,DPYD-AS1 | c.2501T>C (p.Leu834Pro) n.65-72224A>G c.2285T>C (p.Leu762Pro) c.2390T>C (p.Leu797Pro) c.2006T>C (p.Leu669Pro) | |
1 | g.97193190A>T | CA341373529 | DPYD,DPYD-AS1 | c.2501T>A (p.Leu834His) n.65-72224A>T c.2285T>A (p.Leu762His) c.2390T>A (p.Leu797His) c.2006T>A (p.Leu669His) | |
1 | g.97193191G>A | CA341373530 | DPYD,DPYD-AS1 | c.2500C>T (p.Leu834Phe) n.65-72223G>A c.2284C>T (p.Leu762Phe) c.2389C>T (p.Leu797Phe) c.2005C>T (p.Leu669Phe) | |
1 | g.97193191G>C | CA341373531 | DPYD,DPYD-AS1 | c.2500C>G (p.Leu834Val) n.65-72223G>C c.2284C>G (p.Leu762Val) c.2389C>G (p.Leu797Val) c.2005C>G (p.Leu669Val) | |
1 | g.97193191G>T | CA341373532 | DPYD,DPYD-AS1 | c.2500C>A (p.Leu834Ile) n.65-72223G>T c.2284C>A (p.Leu762Ile) c.2389C>A (p.Leu797Ile) c.2005C>A (p.Leu669Ile) | |
1 | g.97193192G>A | CA419137218 | DPYD,DPYD-AS1 | c.2499C>T (p.Gly833=) n.65-72222G>A c.2283C>T (p.Gly761=) c.2388C>T (p.Gly796=) c.2004C>T (p.Gly668=) | |
1 | g.97193192G>C | CA419137220 | DPYD,DPYD-AS1 | c.2499C>G (p.Gly833=) n.65-72222G>C c.2283C>G (p.Gly761=) c.2388C>G (p.Gly796=) c.2004C>G (p.Gly668=) | |
1 | g.97193192G>T | CA419137222 | DPYD,DPYD-AS1 | c.2499C>A (p.Gly833=) n.65-72222G>T c.2283C>A (p.Gly761=) c.2388C>A (p.Gly796=) c.2004C>A (p.Gly668=) | |
1 | g.97193193C>A | CA341373533 | DPYD,DPYD-AS1 | c.2498G>T (p.Gly833Val) n.65-72221C>A c.2282G>T (p.Gly761Val) c.2387G>T (p.Gly796Val) c.2003G>T (p.Gly668Val) | |
1 | g.97193193C>G | CA341373535 | DPYD,DPYD-AS1 | c.2498G>C (p.Gly833Ala) n.65-72221C>G c.2282G>C (p.Gly761Ala) c.2387G>C (p.Gly796Ala) c.2003G>C (p.Gly668Ala) | |
1 | g.97193193C>T | CA341373534 | DPYD,DPYD-AS1 | c.2498G>A (p.Gly833Asp) n.65-72221C>T c.2282G>A (p.Gly761Asp) c.2387G>A (p.Gly796Asp) c.2003G>A (p.Gly668Asp) | gnomAD v4 |
1 | g.97193194C>A | CA341373536 | DPYD,DPYD-AS1 | c.2497G>T (p.Gly833Cys) n.65-72220C>A c.2281G>T (p.Gly761Cys) c.2386G>T (p.Gly796Cys) c.2002G>T (p.Gly668Cys) | gnomAD v4 |
1 | g.97193194C>G | CA341373537 | DPYD,DPYD-AS1 | c.2497G>C (p.Gly833Arg) n.65-72220C>G c.2281G>C (p.Gly761Arg) c.2386G>C (p.Gly796Arg) c.2002G>C (p.Gly668Arg) | |
1 | g.97193194C>T | CA341373538 | DPYD,DPYD-AS1 | c.2497G>A (p.Gly833Ser) n.65-72220C>T c.2281G>A (p.Gly761Ser) c.2386G>A (p.Gly796Ser) c.2002G>A (p.Gly668Ser) | |
1 | g.97193195A>C | CA419137241 | DPYD,DPYD-AS1 | c.2496T>G (p.Thr832=) n.65-72219A>C c.2280T>G (p.Thr760=) c.2385T>G (p.Thr795=) c.2001T>G (p.Thr667=) | |
1 | g.97193195A>G | CA419137245 | DPYD,DPYD-AS1 | c.2496T>C (p.Thr832=) n.65-72219A>G c.2280T>C (p.Thr760=) c.2385T>C (p.Thr795=) c.2001T>C (p.Thr667=) | |
1 | g.97193195A>T | CA419137243 | DPYD,DPYD-AS1 | c.2496T>A (p.Thr832=) n.65-72219A>T c.2280T>A (p.Thr760=) c.2385T>A (p.Thr795=) c.2001T>A (p.Thr667=) | |
1 | g.97193196G>A | CA341373539 | DPYD,DPYD-AS1 | c.2495C>T (p.Thr832Ile) n.65-72218G>A c.2279C>T (p.Thr760Ile) c.2384C>T (p.Thr795Ile) c.2000C>T (p.Thr667Ile) | COSMIC |
1 | g.97193196G>C | CA341373540 | DPYD,DPYD-AS1 | c.2495C>G (p.Thr832Ser) n.65-72218G>C c.2279C>G (p.Thr760Ser) c.2384C>G (p.Thr795Ser) c.2000C>G (p.Thr667Ser) | |
1 | g.97193196G>T | CA341373541 | DPYD,DPYD-AS1 | c.2495C>A (p.Thr832Asn) n.65-72218G>T c.2279C>A (p.Thr760Asn) c.2384C>A (p.Thr795Asn) c.2000C>A (p.Thr667Asn) | COSMIC |
1 | g.97193197T>A | CA341373542 | DPYD,DPYD-AS1 | c.2494A>T (p.Thr832Ser) n.65-72217T>A c.2278A>T (p.Thr760Ser) c.2383A>T (p.Thr795Ser) c.1999A>T (p.Thr667Ser) | |
1 | g.97193197T>C | CA341373543 | DPYD,DPYD-AS1 | c.2494A>G (p.Thr832Ala) n.65-72217T>C c.2278A>G (p.Thr760Ala) c.2383A>G (p.Thr795Ala) c.1999A>G (p.Thr667Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193197T>G | CA341373544 | DPYD,DPYD-AS1 | c.2494A>C (p.Thr832Pro) n.65-72217T>G c.2278A>C (p.Thr760Pro) c.2383A>C (p.Thr795Pro) c.1999A>C (p.Thr667Pro) | gnomAD v4 |
1 | g.97193197T= | CA1182758276 | DPYD,DPYD-AS1 | c.2494A= (p.Thr832=) n.65-72217T= c.2278A= (p.Thr760=) c.2383A= (p.Thr795=) c.1999A= (p.Thr667=) | |
1 | g.97193198G>A | CA419137255 | DPYD,DPYD-AS1 | c.2493C>T (p.Cys831=) n.65-72216G>A c.2277C>T (p.Cys759=) c.2382C>T (p.Cys794=) c.1998C>T (p.Cys666=) | |
1 | g.97193198G>C | CA341373545 | DPYD,DPYD-AS1 | c.2493C>G (p.Cys831Trp) n.65-72216G>C c.2277C>G (p.Cys759Trp) c.2382C>G (p.Cys794Trp) c.1998C>G (p.Cys666Trp) | |
1 | g.97193198G>T | CA341373546 | DPYD,DPYD-AS1 | c.2493C>A (p.Cys831Ter) n.65-72216G>T c.2277C>A (p.Cys759Ter) c.2382C>A (p.Cys794Ter) c.1998C>A (p.Cys666Ter) | |
1 | g.97193199C>A | CA963017 | DPYD,DPYD-AS1 | c.2492G>T (p.Cys831Phe) n.65-72215C>A c.2276G>T (p.Cys759Phe) c.2381G>T (p.Cys794Phe) c.1997G>T (p.Cys666Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97193199C= | CA1182758277 | DPYD,DPYD-AS1 | c.2492G= (p.Cys831=) n.65-72215C= c.2276G= (p.Cys759=) c.2381G= (p.Cys794=) c.1997G= (p.Cys666=) | |
1 | g.97193199C>G | CA341373548 | DPYD,DPYD-AS1 | c.2492G>C (p.Cys831Ser) n.65-72215C>G c.2276G>C (p.Cys759Ser) c.2381G>C (p.Cys794Ser) c.1997G>C (p.Cys666Ser) | |
1 | g.97193199C>T | CA341373547 | DPYD,DPYD-AS1 | c.2492G>A (p.Cys831Tyr) n.65-72215C>T c.2276G>A (p.Cys759Tyr) c.2381G>A (p.Cys794Tyr) c.1997G>A (p.Cys666Tyr) | |
1 | g.97193200A>C | CA341373549 | DPYD,DPYD-AS1 | c.2491T>G (p.Cys831Gly) n.65-72214A>C c.2275T>G (p.Cys759Gly) c.2380T>G (p.Cys794Gly) c.1996T>G (p.Cys666Gly) | gnomAD v4 |
1 | g.97193200A>G | CA341373550 | DPYD,DPYD-AS1 | c.2491T>C (p.Cys831Arg) n.65-72214A>G c.2275T>C (p.Cys759Arg) c.2380T>C (p.Cys794Arg) c.1996T>C (p.Cys666Arg) | |
1 | g.97193200A>T | CA341373551 | DPYD,DPYD-AS1 | c.2491T>A (p.Cys831Ser) n.65-72214A>T c.2275T>A (p.Cys759Ser) c.2380T>A (p.Cys794Ser) c.1996T>A (p.Cys666Ser) | gnomAD v4 |
1 | g.97193203_97193205del | CA2744694192 | DPYD,DPYD-AS1 | c.2489_2491del (p.Tyr830del) n.65-72211_65-72209del c.2273_2275del (p.Tyr758del) c.2378_2380del (p.Tyr793del) c.1994_1996del (p.Tyr665del) | |
1 | g.97193201G>A | CA419137272 | DPYD,DPYD-AS1 | c.2490C>T (p.Tyr830=) n.65-72213G>A c.2274C>T (p.Tyr758=) c.2379C>T (p.Tyr793=) c.1995C>T (p.Tyr665=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193201G>C | CA341373552 | DPYD,DPYD-AS1 | c.2490C>G (p.Tyr830Ter) n.65-72213G>C c.2274C>G (p.Tyr758Ter) c.2379C>G (p.Tyr793Ter) c.1995C>G (p.Tyr665Ter) | |
1 | g.97193201G= | CA1182758278 | DPYD,DPYD-AS1 | c.2490C= (p.Tyr830=) n.65-72213G= c.2274C= (p.Tyr758=) c.2379C= (p.Tyr793=) c.1995C= (p.Tyr665=) | |
1 | g.97193201G>T | CA341373553 | DPYD,DPYD-AS1 | c.2490C>A (p.Tyr830Ter) n.65-72213G>T c.2274C>A (p.Tyr758Ter) c.2379C>A (p.Tyr793Ter) c.1995C>A (p.Tyr665Ter) | |
1 | g.97193202T>A | CA341373554 | DPYD,DPYD-AS1 | c.2489A>T (p.Tyr830Phe) n.65-72212T>A c.2273A>T (p.Tyr758Phe) c.2378A>T (p.Tyr793Phe) c.1994A>T (p.Tyr665Phe) | |
1 | g.97193202T>C | CA963018 | DPYD,DPYD-AS1 | c.2489A>G (p.Tyr830Cys) n.65-72212T>C c.2273A>G (p.Tyr758Cys) c.2378A>G (p.Tyr793Cys) c.1994A>G (p.Tyr665Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97193202T>G | CA341373555 | DPYD,DPYD-AS1 | c.2489A>C (p.Tyr830Ser) n.65-72212T>G c.2273A>C (p.Tyr758Ser) c.2378A>C (p.Tyr793Ser) c.1994A>C (p.Tyr665Ser) | |
1 | g.97193202T= | CA1182758279 | DPYD,DPYD-AS1 | c.2489A= (p.Tyr830=) n.65-72212T= c.2273A= (p.Tyr758=) c.2378A= (p.Tyr793=) c.1994A= (p.Tyr665=) | |
1 | g.97193203A>C | CA341373556 | DPYD,DPYD-AS1 | c.2488T>G (p.Tyr830Asp) n.65-72211A>C c.2272T>G (p.Tyr758Asp) c.2377T>G (p.Tyr793Asp) c.1993T>G (p.Tyr665Asp) | |
1 | g.97193203A>G | CA341373557 | DPYD,DPYD-AS1 | c.2488T>C (p.Tyr830His) n.65-72211A>G c.2272T>C (p.Tyr758His) c.2377T>C (p.Tyr793His) c.1993T>C (p.Tyr665His) | |
1 | g.97193203A>T | CA341373558 | DPYD,DPYD-AS1 | c.2488T>A (p.Tyr830Asn) n.65-72211A>T c.2272T>A (p.Tyr758Asn) c.2377T>A (p.Tyr793Asn) c.1993T>A (p.Tyr665Asn) | |
1 | g.97193204G>A | CA419137290 | DPYD,DPYD-AS1 | c.2487C>T (p.Asp829=) n.65-72210G>A c.2271C>T (p.Asp757=) c.2376C>T (p.Asp792=) c.1992C>T (p.Asp664=) | |
1 | g.97193204G>C | CA341373559 | DPYD,DPYD-AS1 | c.2487C>G (p.Asp829Glu) n.65-72210G>C c.2271C>G (p.Asp757Glu) c.2376C>G (p.Asp792Glu) c.1992C>G (p.Asp664Glu) | |
1 | g.97193204G>T | CA341373560 | DPYD,DPYD-AS1 | c.2487C>A (p.Asp829Glu) n.65-72210G>T c.2271C>A (p.Asp757Glu) c.2376C>A (p.Asp792Glu) c.1992C>A (p.Asp664Glu) | |
1 | g.97193205T>A | CA341373563 | DPYD,DPYD-AS1 | c.2486A>T (p.Asp829Val) n.65-72209T>A c.2270A>T (p.Asp757Val) c.2375A>T (p.Asp792Val) c.1991A>T (p.Asp664Val) | |
1 | g.97193205T>C | CA341373561 | DPYD,DPYD-AS1 | c.2486A>G (p.Asp829Gly) n.65-72209T>C c.2270A>G (p.Asp757Gly) c.2375A>G (p.Asp792Gly) c.1991A>G (p.Asp664Gly) | |
1 | g.97193205T>G | CA341373562 | DPYD,DPYD-AS1 | c.2486A>C (p.Asp829Ala) n.65-72209T>G c.2270A>C (p.Asp757Ala) c.2375A>C (p.Asp792Ala) c.1991A>C (p.Asp664Ala) | |
1 | g.97193206C>A | CA341373564 | DPYD,DPYD-AS1 | c.2485G>T (p.Asp829Tyr) n.65-72208C>A c.2269G>T (p.Asp757Tyr) c.2374G>T (p.Asp792Tyr) c.1990G>T (p.Asp664Tyr) | |
1 | g.97193206C= | CA1143374355 | DPYD,DPYD-AS1 | c.2485G= (p.Asp829=) n.65-72208C= c.2269G= (p.Asp757=) c.2374G= (p.Asp792=) c.1990G= (p.Asp664=) | |
1 | g.97193206C>G | CA341373565 | DPYD,DPYD-AS1 | c.2485G>C (p.Asp829His) n.65-72208C>G c.2269G>C (p.Asp757His) c.2374G>C (p.Asp792His) c.1990G>C (p.Asp664His) | |
1 | g.97193206C>T | CA963019 | DPYD,DPYD-AS1 | c.2485G>A (p.Asp829Asn) n.65-72208C>T c.2269G>A (p.Asp757Asn) c.2374G>A (p.Asp792Asn) c.1990G>A (p.Asp664Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193207T>A | CA341373566 | DPYD,DPYD-AS1 | c.2484A>T (p.Glu828Asp) n.65-72207T>A c.2268A>T (p.Glu756Asp) c.2373A>T (p.Glu791Asp) c.1989A>T (p.Glu663Asp) | |
1 | g.97193207T>C | CA419137306 | DPYD,DPYD-AS1 | c.2484A>G (p.Glu828=) n.65-72207T>C c.2268A>G (p.Glu756=) c.2373A>G (p.Glu791=) c.1989A>G (p.Glu663=) | |
1 | g.97193207T>G | CA341373567 | DPYD,DPYD-AS1 | c.2484A>C (p.Glu828Asp) n.65-72207T>G c.2268A>C (p.Glu756Asp) c.2373A>C (p.Glu791Asp) c.1989A>C (p.Glu663Asp) | |
1 | g.97193208T>A | CA341373568 | DPYD,DPYD-AS1 | c.2483A>T (p.Glu828Val) n.65-72206T>A c.2267A>T (p.Glu756Val) c.2372A>T (p.Glu791Val) c.1988A>T (p.Glu663Val) | gnomAD v4 |
1 | g.97193208T>C | CA341373569 | DPYD,DPYD-AS1 | c.2483A>G (p.Glu828Gly) n.65-72206T>C c.2267A>G (p.Glu756Gly) c.2372A>G (p.Glu791Gly) c.1988A>G (p.Glu663Gly) | |
1 | g.97193208T>G | CA341373570 | DPYD,DPYD-AS1 | c.2483A>C (p.Glu828Ala) n.65-72206T>G c.2267A>C (p.Glu756Ala) c.2372A>C (p.Glu791Ala) c.1988A>C (p.Glu663Ala) | |
1 | g.97193209C>A | CA341373571 | DPYD,DPYD-AS1 | c.2482G>T (p.Glu828Ter) n.65-72205C>A c.2266G>T (p.Glu756Ter) c.2371G>T (p.Glu791Ter) c.1987G>T (p.Glu663Ter) | dbSNP gnomAD v2 |
1 | g.97193209C= | CA1143433941 | DPYD,DPYD-AS1 | c.2482G= (p.Glu828=) n.65-72205C= c.2266G= (p.Glu756=) c.2371G= (p.Glu791=) c.1987G= (p.Glu663=) | |
1 | g.97193209C>G | CA27471513 | DPYD,DPYD-AS1 | c.2482G>C (p.Glu828Gln) n.65-72205C>G c.2266G>C (p.Glu756Gln) c.2371G>C (p.Glu791Gln) c.1987G>C (p.Glu663Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193209C>T | CA963020 | DPYD,DPYD-AS1 | c.2482G>A (p.Glu828Lys) n.65-72205C>T c.2266G>A (p.Glu756Lys) c.2371G>A (p.Glu791Lys) c.1987G>A (p.Glu663Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.97193210G>A | CA963021 | DPYD,DPYD-AS1 | c.2481C>T (p.Ile827=) n.65-72204G>A c.2265C>T (p.Ile755=) c.2370C>T (p.Ile790=) c.1986C>T (p.Ile662=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.97193210G>C | CA341373572 | DPYD,DPYD-AS1 | c.2481C>G (p.Ile827Met) n.65-72204G>C c.2265C>G (p.Ile755Met) c.2370C>G (p.Ile790Met) c.1986C>G (p.Ile662Met) | dbSNP |
1 | g.97193210G= | CA1182758280 | DPYD,DPYD-AS1 | c.2481C= (p.Ile827=) n.65-72204G= c.2265C= (p.Ile755=) c.2370C= (p.Ile790=) c.1986C= (p.Ile662=) | |
1 | g.97193210G>T | CA419137327 | DPYD,DPYD-AS1 | c.2481C>A (p.Ile827=) n.65-72204G>T c.2265C>A (p.Ile755=) c.2370C>A (p.Ile790=) c.1986C>A (p.Ile662=) | dbSNP |
1 | g.97193211A>C | CA341373574 | DPYD,DPYD-AS1 | c.2480T>G (p.Ile827Ser) n.65-72203A>C c.2264T>G (p.Ile755Ser) c.2369T>G (p.Ile790Ser) c.1985T>G (p.Ile662Ser) | |
1 | g.97193211A>G | CA341373575 | DPYD,DPYD-AS1 | c.2480T>C (p.Ile827Thr) n.65-72203A>G c.2264T>C (p.Ile755Thr) c.2369T>C (p.Ile790Thr) c.1985T>C (p.Ile662Thr) | |
1 | g.97193211A>T | CA341373573 | DPYD,DPYD-AS1 | c.2480T>A (p.Ile827Asn) n.65-72203A>T c.2264T>A (p.Ile755Asn) c.2369T>A (p.Ile790Asn) c.1985T>A (p.Ile662Asn) | |
1 | g.97193212T>A | CA341373576 | DPYD,DPYD-AS1 | c.2479A>T (p.Ile827Phe) n.65-72202T>A c.2263A>T (p.Ile755Phe) c.2368A>T (p.Ile790Phe) c.1984A>T (p.Ile662Phe) | |
1 | g.97193212T>C | CA341373578 | DPYD,DPYD-AS1 | c.2479A>G (p.Ile827Val) n.65-72202T>C c.2263A>G (p.Ile755Val) c.2368A>G (p.Ile790Val) c.1984A>G (p.Ile662Val) | |
1 | g.97193212T>G | CA341373577 | DPYD,DPYD-AS1 | c.2479A>C (p.Ile827Leu) n.65-72202T>G c.2263A>C (p.Ile755Leu) c.2368A>C (p.Ile790Leu) c.1984A>C (p.Ile662Leu) | |
1 | g.97193213C>A | CA419137340 | DPYD,DPYD-AS1 | c.2478G>T (p.Val826=) n.65-72201C>A c.2262G>T (p.Val754=) c.2367G>T (p.Val789=) c.1983G>T (p.Val661=) | |
1 | g.97193213C= | CA1143491607 | DPYD,DPYD-AS1 | c.2478G= (p.Val826=) n.65-72201C= c.2262G= (p.Val754=) c.2367G= (p.Val789=) c.1983G= (p.Val661=) | |
1 | g.97193213C>G | CA27471514 | DPYD,DPYD-AS1 | c.2478G>C (p.Val826=) n.65-72201C>G c.2262G>C (p.Val754=) c.2367G>C (p.Val789=) c.1983G>C (p.Val661=) | dbSNP gnomAD v4 |
1 | g.97193213C>T | CA963022 | DPYD,DPYD-AS1 | c.2478G>A (p.Val826=) n.65-72201C>T c.2262G>A (p.Val754=) c.2367G>A (p.Val789=) c.1983G>A (p.Val661=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97193214A>C | CA341373579 | DPYD,DPYD-AS1 | c.2477T>G (p.Val826Gly) n.65-72200A>C c.2261T>G (p.Val754Gly) c.2366T>G (p.Val789Gly) c.1982T>G (p.Val661Gly) | |
1 | g.97193214A>G | CA341373581 | DPYD,DPYD-AS1 | c.2477T>C (p.Val826Ala) n.65-72200A>G c.2261T>C (p.Val754Ala) c.2366T>C (p.Val789Ala) c.1982T>C (p.Val661Ala) | |
1 | g.97193214A>T | CA341373580 | DPYD,DPYD-AS1 | c.2477T>A (p.Val826Glu) n.65-72200A>T c.2261T>A (p.Val754Glu) c.2366T>A (p.Val789Glu) c.1982T>A (p.Val661Glu) | |
1 | g.97193215C>A | CA341373582 | DPYD,DPYD-AS1 | c.2476G>T (p.Val826Leu) n.65-72199C>A c.2260G>T (p.Val754Leu) c.2365G>T (p.Val789Leu) c.1981G>T (p.Val661Leu) | |
1 | g.97193215C= | CA1182758281 | DPYD,DPYD-AS1 | c.2476G= (p.Val826=) n.65-72199C= c.2260G= (p.Val754=) c.2365G= (p.Val789=) c.1981G= (p.Val661=) | |
1 | g.97193215C>G | CA341373584 | DPYD,DPYD-AS1 | c.2476G>C (p.Val826Leu) n.65-72199C>G c.2260G>C (p.Val754Leu) c.2365G>C (p.Val789Leu) c.1981G>C (p.Val661Leu) | |
1 | g.97193215C>T | CA341373583 | DPYD,DPYD-AS1 | c.2476G>A (p.Val826Met) n.65-72199C>T c.2260G>A (p.Val754Met) c.2365G>A (p.Val789Met) c.1981G>A (p.Val661Met) | dbSNP gnomAD v4 |
1 | g.97193216A>C | CA419137341 | DPYD,DPYD-AS1 | c.2475T>G (p.Thr825=) n.65-72198A>C c.2259T>G (p.Thr753=) c.2364T>G (p.Thr788=) c.1980T>G (p.Thr660=) | |
1 | g.97193216A>G | CA419137342 | DPYD,DPYD-AS1 | c.2475T>C (p.Thr825=) n.65-72198A>G c.2259T>C (p.Thr753=) c.2364T>C (p.Thr788=) c.1980T>C (p.Thr660=) | gnomAD v4 |
1 | g.97193216A>T | CA419137343 | DPYD,DPYD-AS1 | c.2475T>A (p.Thr825=) n.65-72198A>T c.2259T>A (p.Thr753=) c.2364T>A (p.Thr788=) c.1980T>A (p.Thr660=) |