Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.97098609A= | CA1182717218 | DPYD,DPYD-AS1 | c.2646T= (p.Tyr882=) n.64+2623A= c.2430T= (p.Tyr810=) c.2535T= (p.Tyr845=) c.2151T= (p.Tyr717=) | |
1 | g.97098609A>C | CA341374946 | DPYD,DPYD-AS1 | c.2646T>G (p.Tyr882Ter) n.64+2623A>C c.2430T>G (p.Tyr810Ter) c.2535T>G (p.Tyr845Ter) c.2151T>G (p.Tyr717Ter) | |
1 | g.97098609A>G | CA962970 | DPYD,DPYD-AS1 | c.2646T>C (p.Tyr882=) n.64+2623A>G c.2430T>C (p.Tyr810=) c.2535T>C (p.Tyr845=) c.2151T>C (p.Tyr717=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97098609A>T | CA341374947 | DPYD,DPYD-AS1 | c.2646T>A (p.Tyr882Ter) n.64+2623A>T c.2430T>A (p.Tyr810Ter) c.2535T>A (p.Tyr845Ter) c.2151T>A (p.Tyr717Ter) | |
1 | g.97098610T>A | CA341374948 | DPYD,DPYD-AS1 | c.2645A>T (p.Tyr882Phe) n.64+2624T>A c.2429A>T (p.Tyr810Phe) c.2534A>T (p.Tyr845Phe) c.2150A>T (p.Tyr717Phe) | gnomAD v4 |
1 | g.97098610T>C | CA962971 | DPYD,DPYD-AS1 | c.2645A>G (p.Tyr882Cys) n.64+2624T>C c.2429A>G (p.Tyr810Cys) c.2534A>G (p.Tyr845Cys) c.2150A>G (p.Tyr717Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97098610T>G | CA341374949 | DPYD,DPYD-AS1 | c.2645A>C (p.Tyr882Ser) n.64+2624T>G c.2429A>C (p.Tyr810Ser) c.2534A>C (p.Tyr845Ser) c.2150A>C (p.Tyr717Ser) | |
1 | g.97098610T= | CA1182717219 | DPYD,DPYD-AS1 | c.2645A= (p.Tyr882=) n.64+2624T= c.2429A= (p.Tyr810=) c.2534A= (p.Tyr845=) c.2150A= (p.Tyr717=) | |
1 | g.97098611A= | CA1182717220 | DPYD,DPYD-AS1 | c.2644T= (p.Tyr882=) n.64+2625A= c.2428T= (p.Tyr810=) c.2533T= (p.Tyr845=) c.2149T= (p.Tyr717=) | |
1 | g.97098611A>C | CA341374950 | DPYD,DPYD-AS1 | c.2644T>G (p.Tyr882Asp) n.64+2625A>C c.2428T>G (p.Tyr810Asp) c.2533T>G (p.Tyr845Asp) c.2149T>G (p.Tyr717Asp) | |
1 | g.97098611A>G | CA341374951 | DPYD,DPYD-AS1 | c.2644T>C (p.Tyr882His) n.64+2625A>G c.2428T>C (p.Tyr810His) c.2533T>C (p.Tyr845His) c.2149T>C (p.Tyr717His) | dbSNP COSMIC |
1 | g.97098611A>T | CA341374952 | DPYD,DPYD-AS1 | c.2644T>A (p.Tyr882Asn) n.64+2625A>T c.2428T>A (p.Tyr810Asn) c.2533T>A (p.Tyr845Asn) c.2149T>A (p.Tyr717Asn) | |
1 | g.97098612A>C | CA419137021 | DPYD,DPYD-AS1 | c.2643T>G (p.Pro881=) n.64+2626A>C c.2427T>G (p.Pro809=) c.2532T>G (p.Pro844=) c.2148T>G (p.Pro716=) | |
1 | g.97098612A>G | CA419137022 | DPYD,DPYD-AS1 | c.2643T>C (p.Pro881=) n.64+2626A>G c.2427T>C (p.Pro809=) c.2532T>C (p.Pro844=) c.2148T>C (p.Pro716=) | |
1 | g.97098612A>T | CA419137020 | DPYD,DPYD-AS1 | c.2643T>A (p.Pro881=) n.64+2626A>T c.2427T>A (p.Pro809=) c.2532T>A (p.Pro844=) c.2148T>A (p.Pro716=) | |
1 | g.97098613G>A | CA962972 | DPYD,DPYD-AS1 | c.2642C>T (p.Pro881Leu) n.64+2627G>A c.2426C>T (p.Pro809Leu) c.2531C>T (p.Pro844Leu) c.2147C>T (p.Pro716Leu) | dbSNP ExAC gnomAD v4 |
1 | g.97098613G>C | CA341374953 | DPYD,DPYD-AS1 | c.2642C>G (p.Pro881Arg) n.64+2627G>C c.2426C>G (p.Pro809Arg) c.2531C>G (p.Pro844Arg) c.2147C>G (p.Pro716Arg) | |
1 | g.97098613G= | CA1182717221 | DPYD,DPYD-AS1 | c.2642C= (p.Pro881=) n.64+2627G= c.2426C= (p.Pro809=) c.2531C= (p.Pro844=) c.2147C= (p.Pro716=) | |
1 | g.97098613G>T | CA341374954 | DPYD,DPYD-AS1 | c.2642C>A (p.Pro881His) n.64+2627G>T c.2426C>A (p.Pro809His) c.2531C>A (p.Pro844His) c.2147C>A (p.Pro716His) | |
1 | g.97098614G>A | CA341374955 | DPYD,DPYD-AS1 | c.2641C>T (p.Pro881Ser) n.64+2628G>A c.2425C>T (p.Pro809Ser) c.2530C>T (p.Pro844Ser) c.2146C>T (p.Pro716Ser) | |
1 | g.97098614G>C | CA341374956 | DPYD,DPYD-AS1 | c.2641C>G (p.Pro881Ala) n.64+2628G>C c.2425C>G (p.Pro809Ala) c.2530C>G (p.Pro844Ala) c.2146C>G (p.Pro716Ala) | |
1 | g.97098614G>T | CA341374957 | DPYD,DPYD-AS1 | c.2641C>A (p.Pro881Thr) n.64+2628G>T c.2425C>A (p.Pro809Thr) c.2530C>A (p.Pro844Thr) c.2146C>A (p.Pro716Thr) | |
1 | g.97098615T>A | CA419137025 | DPYD,DPYD-AS1 | c.2640A>T (p.Gly880=) n.64+2629T>A c.2424A>T (p.Gly808=) c.2529A>T (p.Gly843=) c.2145A>T (p.Gly715=) | |
1 | g.97098615T>C | CA419137024 | DPYD,DPYD-AS1 | c.2640A>G (p.Gly880=) n.64+2629T>C c.2424A>G (p.Gly808=) c.2529A>G (p.Gly843=) c.2145A>G (p.Gly715=) | |
1 | g.97098615T>G | CA419137023 | DPYD,DPYD-AS1 | c.2640A>C (p.Gly880=) n.64+2629T>G c.2424A>C (p.Gly808=) c.2529A>C (p.Gly843=) c.2145A>C (p.Gly715=) | |
1 | g.97098616C>A | CA962973 | DPYD,DPYD-AS1 | c.2639G>T (p.Gly880Val) n.64+2630C>A c.2423G>T (p.Gly808Val) c.2528G>T (p.Gly843Val) c.2144G>T (p.Gly715Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97098616C= | CA1140617498 | DPYD,DPYD-AS1 | c.2639G= (p.Gly880=) n.64+2630C= c.2423G= (p.Gly808=) c.2528G= (p.Gly843=) c.2144G= (p.Gly715=) | |
1 | g.97098616C>G | CA341374958 | DPYD,DPYD-AS1 | c.2639G>C (p.Gly880Ala) n.64+2630C>G c.2423G>C (p.Gly808Ala) c.2528G>C (p.Gly843Ala) c.2144G>C (p.Gly715Ala) | |
1 | g.97098616C>T | CA341374959 | DPYD,DPYD-AS1 | c.2639G>A (p.Gly880Glu) n.64+2630C>T c.2423G>A (p.Gly808Glu) c.2528G>A (p.Gly843Glu) c.2144G>A (p.Gly715Glu) | |
1 | g.97098617C>A | CA341374961 | DPYD,DPYD-AS1 | c.2638G>T (p.Gly880Ter) n.64+2631C>A c.2422G>T (p.Gly808Ter) c.2527G>T (p.Gly843Ter) c.2143G>T (p.Gly715Ter) | |
1 | g.97098617C>G | CA341374962 | DPYD,DPYD-AS1 | c.2638G>C (p.Gly880Arg) n.64+2631C>G c.2422G>C (p.Gly808Arg) c.2527G>C (p.Gly843Arg) c.2143G>C (p.Gly715Arg) | |
1 | g.97098617C>T | CA341374960 | DPYD,DPYD-AS1 | c.2638G>A (p.Gly880Arg) n.64+2631C>T c.2422G>A (p.Gly808Arg) c.2527G>A (p.Gly843Arg) c.2143G>A (p.Gly715Arg) | |
1 | g.97098618A>C | CA341374964 | DPYD,DPYD-AS1 | c.2637T>G (p.Phe879Leu) n.64+2632A>C c.2421T>G (p.Phe807Leu) c.2526T>G (p.Phe842Leu) c.2142T>G (p.Phe714Leu) | gnomAD v4 |
1 | g.97098618A>G | CA419137026 | DPYD,DPYD-AS1 | c.2637T>C (p.Phe879=) n.64+2632A>G c.2421T>C (p.Phe807=) c.2526T>C (p.Phe842=) c.2142T>C (p.Phe714=) | dbSNP |
1 | g.97098618A>T | CA341374963 | DPYD,DPYD-AS1 | c.2637T>A (p.Phe879Leu) n.64+2632A>T c.2421T>A (p.Phe807Leu) c.2526T>A (p.Phe842Leu) c.2142T>A (p.Phe714Leu) | |
1 | g.97098619A>C | CA341374967 | DPYD,DPYD-AS1 | c.2636T>G (p.Phe879Cys) n.64+2633A>C c.2420T>G (p.Phe807Cys) c.2525T>G (p.Phe842Cys) c.2141T>G (p.Phe714Cys) | |
1 | g.97098619A>G | CA341374965 | DPYD,DPYD-AS1 | c.2636T>C (p.Phe879Ser) n.64+2633A>G c.2420T>C (p.Phe807Ser) c.2525T>C (p.Phe842Ser) c.2141T>C (p.Phe714Ser) | |
1 | g.97098619A>T | CA341374966 | DPYD,DPYD-AS1 | c.2636T>A (p.Phe879Tyr) n.64+2633A>T c.2420T>A (p.Phe807Tyr) c.2525T>A (p.Phe842Tyr) c.2141T>A (p.Phe714Tyr) | |
1 | g.97098620A>C | CA341374968 | DPYD,DPYD-AS1 | c.2635T>G (p.Phe879Val) n.64+2634A>C c.2419T>G (p.Phe807Val) c.2524T>G (p.Phe842Val) c.2140T>G (p.Phe714Val) | |
1 | g.97098620A>G | CA341374969 | DPYD,DPYD-AS1 | c.2635T>C (p.Phe879Leu) n.64+2634A>G c.2419T>C (p.Phe807Leu) c.2524T>C (p.Phe842Leu) c.2140T>C (p.Phe714Leu) | |
1 | g.97098620A>T | CA341374970 | DPYD,DPYD-AS1 | c.2635T>A (p.Phe879Ile) n.64+2634A>T c.2419T>A (p.Phe807Ile) c.2524T>A (p.Phe842Ile) c.2140T>A (p.Phe714Ile) | |
1 | g.97098620_97098621insCACACCCAACAC | CA2744691400 | DPYD,DPYD-AS1 | c.2634_2635insGTGTTGGGTGTG (p.Ser878_Phe879insValLeuGlyVal) n.64+2634_64+2635insCACACCCAACAC c.2418_2419insGTGTTGGGTGTG (p.Ser806_Phe807insValLeuGlyVal) c.2523_2524insGTGTTGGGTGTG (p.Ser841_Phe842insValLeuGlyVal) c.2139_2140insGTGTTGGGTGTG (p.Ser713_Phe714insValLeuGlyVal) | |
1 | g.97098621A= | CA1182717222 | DPYD,DPYD-AS1 | c.2634T= (p.Ser878=) n.64+2635A= c.2418T= (p.Ser806=) c.2523T= (p.Ser841=) c.2139T= (p.Ser713=) | |
1 | g.97098621A>C | CA27460749 | DPYD,DPYD-AS1 | c.2634T>G (p.Ser878Arg) n.64+2635A>C c.2418T>G (p.Ser806Arg) c.2523T>G (p.Ser841Arg) c.2139T>G (p.Ser713Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97098621A>G | CA419137027 | DPYD,DPYD-AS1 | c.2634T>C (p.Ser878=) n.64+2635A>G c.2418T>C (p.Ser806=) c.2523T>C (p.Ser841=) c.2139T>C (p.Ser713=) | |
1 | g.97098621A>T | CA341374971 | DPYD,DPYD-AS1 | c.2634T>A (p.Ser878Arg) n.64+2635A>T c.2418T>A (p.Ser806Arg) c.2523T>A (p.Ser841Arg) c.2139T>A (p.Ser713Arg) | |
1 | g.97098622C>A | CA341374972 | DPYD,DPYD-AS1 | c.2633G>T (p.Ser878Ile) n.64+2636C>A c.2417G>T (p.Ser806Ile) c.2522G>T (p.Ser841Ile) c.2138G>T (p.Ser713Ile) | |
1 | g.97098622C>G | CA341374973 | DPYD,DPYD-AS1 | c.2633G>C (p.Ser878Thr) n.64+2636C>G c.2417G>C (p.Ser806Thr) c.2522G>C (p.Ser841Thr) c.2138G>C (p.Ser713Thr) | |
1 | g.97098622C>T | CA341374974 | DPYD,DPYD-AS1 | c.2633G>A (p.Ser878Asn) n.64+2636C>T c.2417G>A (p.Ser806Asn) c.2522G>A (p.Ser841Asn) c.2138G>A (p.Ser713Asn) | |
1 | g.97098623T>A | CA962974 | DPYD,DPYD-AS1 | c.2632A>T (p.Ser878Cys) n.64+2637T>A c.2416A>T (p.Ser806Cys) c.2521A>T (p.Ser841Cys) c.2137A>T (p.Ser713Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |