Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.97193017T>C | CA525177553 | DPYD,DPYD-AS1 | c.2622+52A>G (n.2622+52A>G) n.65-72397T>C c.2406+52A>G (n.2406+52A>G) c.2623-42A>G (n.2623-42A>G) c.2511+52A>G (n.2511+52A>G) c.2127+52A>G (n.2127+52A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193017T= | CA1182758209 | DPYD,DPYD-AS1 | c.2622+52A= (n.2622+52A=) n.65-72397T= c.2406+52A= (n.2406+52A=) c.2623-42A= (n.2623-42A=) c.2511+52A= (n.2511+52A=) c.2127+52A= (n.2127+52A=) | |
1 | g.97193023C>A | CA1182758211 | DPYD,DPYD-AS1 | c.2622+46G>T (n.2622+46G>T) n.65-72391C>A c.2406+46G>T (n.2406+46G>T) c.2511+46G>T (n.2511+46G>T) c.2127+46G>T (n.2127+46G>T) | dbSNP gnomAD v4 |
1 | g.97193023C= | CA1182758210 | DPYD,DPYD-AS1 | c.2622+46G= (n.2622+46G=) n.65-72391C= c.2406+46G= (n.2406+46G=) c.2511+46G= (n.2511+46G=) c.2127+46G= (n.2127+46G=) | |
1 | g.97193026A= | CA1182758212 | DPYD,DPYD-AS1 | c.2622+43T= (n.2622+43T=) n.65-72388A= c.2406+43T= (n.2406+43T=) c.2511+43T= (n.2511+43T=) c.2127+43T= (n.2127+43T=) | |
1 | g.97193026A>C | CA962982 | DPYD,DPYD-AS1 | c.2622+43T>G (n.2622+43T>G) n.65-72388A>C c.2406+43T>G (n.2406+43T>G) c.2511+43T>G (n.2511+43T>G) c.2127+43T>G (n.2127+43T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97193026A>T | CA2646703682 | DPYD,DPYD-AS1 | c.2622+43T>A (n.2622+43T>A) n.65-72388A>T c.2406+43T>A (n.2406+43T>A) c.2511+43T>A (n.2511+43T>A) c.2127+43T>A (n.2127+43T>A) | gnomAD v4 |
1 | g.97193028G>T | CA2646703683 | DPYD,DPYD-AS1 | c.2622+41C>A (n.2622+41C>A) n.65-72386G>T c.2406+41C>A (n.2406+41C>A) c.2511+41C>A (n.2511+41C>A) c.2127+41C>A (n.2127+41C>A) | gnomAD v4 |
1 | g.97193029C= | CA1182758213 | DPYD,DPYD-AS1 | c.2622+40G= (n.2622+40G=) n.65-72385C= c.2406+40G= (n.2406+40G=) c.2511+40G= (n.2511+40G=) c.2127+40G= (n.2127+40G=) | |
1 | g.97193029C>T | CA962983 | DPYD,DPYD-AS1 | c.2622+40G>A (n.2622+40G>A) n.65-72385C>T c.2406+40G>A (n.2406+40G>A) c.2511+40G>A (n.2511+40G>A) c.2127+40G>A (n.2127+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97193030T>A | CA1182758215 | DPYD,DPYD-AS1 | c.2622+39A>T (n.2622+39A>T) n.65-72384T>A c.2406+39A>T (n.2406+39A>T) c.2511+39A>T (n.2511+39A>T) c.2127+39A>T (n.2127+39A>T) | dbSNP |
1 | g.97193030T= | CA1182758214 | DPYD,DPYD-AS1 | c.2622+39A= (n.2622+39A=) n.65-72384T= c.2406+39A= (n.2406+39A=) c.2511+39A= (n.2511+39A=) c.2127+39A= (n.2127+39A=) | |
1 | g.97193031G>T | CA2646703684 | DPYD,DPYD-AS1 | c.2622+38C>A (n.2622+38C>A) n.65-72383G>T c.2406+38C>A (n.2406+38C>A) c.2511+38C>A (n.2511+38C>A) c.2127+38C>A (n.2127+38C>A) | gnomAD v4 |
1 | g.97193031dup | CA962984 | DPYD,DPYD-AS1 | c.2622+38dup (n.2622+38dup) n.65-72383dup c.2406+38dup (n.2406+38dup) c.2511+38dup (n.2511+38dup) c.2127+38dup (n.2127+38dup) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.97193033G>T | CA2744693438 | DPYD,DPYD-AS1 | c.2622+36C>A (n.2622+36C>A) n.65-72381G>T c.2406+36C>A (n.2406+36C>A) c.2511+36C>A (n.2511+36C>A) c.2127+36C>A (n.2127+36C>A) | |
1 | g.97193034T>C | CA525177554 | DPYD,DPYD-AS1 | c.2622+35A>G (n.2622+35A>G) n.65-72380T>C c.2406+35A>G (n.2406+35A>G) c.2511+35A>G (n.2511+35A>G) c.2127+35A>G (n.2127+35A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193034T= | CA1182758216 | DPYD,DPYD-AS1 | c.2622+35A= (n.2622+35A=) n.65-72380T= c.2406+35A= (n.2406+35A=) c.2511+35A= (n.2511+35A=) c.2127+35A= (n.2127+35A=) | |
1 | g.97193035T>C | CA2744693439 | DPYD,DPYD-AS1 | c.2622+34A>G (n.2622+34A>G) n.65-72379T>C c.2406+34A>G (n.2406+34A>G) c.2511+34A>G (n.2511+34A>G) c.2127+34A>G (n.2127+34A>G) | |
1 | g.97193036C= | CA1182758217 | DPYD,DPYD-AS1 | c.2622+33G= (n.2622+33G=) n.65-72378C= c.2406+33G= (n.2406+33G=) c.2511+33G= (n.2511+33G=) c.2127+33G= (n.2127+33G=) | |
1 | g.97193036C>T | CA962985 | DPYD,DPYD-AS1 | c.2622+33G>A (n.2622+33G>A) n.65-72378C>T c.2406+33G>A (n.2406+33G>A) c.2511+33G>A (n.2511+33G>A) c.2127+33G>A (n.2127+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97193037T>C | CA2646703685 | DPYD,DPYD-AS1 | c.2622+32A>G (n.2622+32A>G) n.65-72377T>C c.2406+32A>G (n.2406+32A>G) c.2511+32A>G (n.2511+32A>G) c.2127+32A>G (n.2127+32A>G) | gnomAD v4 |
1 | g.97193038C>A | CA962986 | DPYD,DPYD-AS1 | c.2622+31G>T (n.2622+31G>T) n.65-72376C>A c.2406+31G>T (n.2406+31G>T) c.2511+31G>T (n.2511+31G>T) c.2127+31G>T (n.2127+31G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193038C= | CA1182758218 | DPYD,DPYD-AS1 | c.2622+31G= (n.2622+31G=) n.65-72376C= c.2406+31G= (n.2406+31G=) c.2511+31G= (n.2511+31G=) c.2127+31G= (n.2127+31G=) | |
1 | g.97193038C>T | CA2574442020 | DPYD,DPYD-AS1 | c.2622+31G>A (n.2622+31G>A) n.65-72376C>T c.2406+31G>A (n.2406+31G>A) c.2511+31G>A (n.2511+31G>A) c.2127+31G>A (n.2127+31G>A) | |
1 | g.97193040A= | CA1182758219 | DPYD,DPYD-AS1 | c.2622+29T= (n.2622+29T=) n.65-72374A= c.2406+29T= (n.2406+29T=) c.2511+29T= (n.2511+29T=) c.2127+29T= (n.2127+29T=) | |
1 | g.97193040A>G | CA525177555 | DPYD,DPYD-AS1 | c.2622+29T>C (n.2622+29T>C) n.65-72374A>G c.2406+29T>C (n.2406+29T>C) c.2511+29T>C (n.2511+29T>C) c.2127+29T>C (n.2127+29T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193041G>A | CA740785798 | DPYD,DPYD-AS1 | c.2622+28C>T (n.2622+28C>T) n.65-72373G>A c.2406+28C>T (n.2406+28C>T) c.2511+28C>T (n.2511+28C>T) c.2127+28C>T (n.2127+28C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.97193041G= | CA1182758220 | DPYD,DPYD-AS1 | c.2622+28C= (n.2622+28C=) n.65-72373G= c.2406+28C= (n.2406+28C=) c.2511+28C= (n.2511+28C=) c.2127+28C= (n.2127+28C=) | |
1 | g.97193043A= | CA1143700094 | DPYD,DPYD-AS1 | c.2622+26T= (n.2622+26T=) n.65-72371A= c.2406+26T= (n.2406+26T=) c.2511+26T= (n.2511+26T=) c.2127+26T= (n.2127+26T=) | |
1 | g.97193043A>G | CA962987 | DPYD,DPYD-AS1 | c.2622+26T>C (n.2622+26T>C) n.65-72371A>G c.2406+26T>C (n.2406+26T>C) c.2511+26T>C (n.2511+26T>C) c.2127+26T>C (n.2127+26T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193044T>G | CA1182758222 | DPYD,DPYD-AS1 | c.2622+25A>C (n.2622+25A>C) n.65-72370T>G c.2406+25A>C (n.2406+25A>C) c.2511+25A>C (n.2511+25A>C) c.2127+25A>C (n.2127+25A>C) | dbSNP |
1 | g.97193044T= | CA1182758221 | DPYD,DPYD-AS1 | c.2622+25A= (n.2622+25A=) n.65-72370T= c.2406+25A= (n.2406+25A=) c.2511+25A= (n.2511+25A=) c.2127+25A= (n.2127+25A=) | |
1 | g.97193045A= | CA1182758223 | DPYD,DPYD-AS1 | c.2622+24T= (n.2622+24T=) n.65-72369A= c.2406+24T= (n.2406+24T=) c.2511+24T= (n.2511+24T=) c.2127+24T= (n.2127+24T=) | |
1 | g.97193045A>T | CA27471507 | DPYD,DPYD-AS1 | c.2622+24T>A (n.2622+24T>A) n.65-72369A>T c.2406+24T>A (n.2406+24T>A) c.2511+24T>A (n.2511+24T>A) c.2127+24T>A (n.2127+24T>A) | dbSNP |
1 | g.97193046A= | CA1182758224 | DPYD,DPYD-AS1 | c.2622+23T= (n.2622+23T=) n.65-72368A= c.2406+23T= (n.2406+23T=) c.2511+23T= (n.2511+23T=) c.2127+23T= (n.2127+23T=) | |
1 | g.97193046A>G | CA525177556 | DPYD,DPYD-AS1 | c.2622+23T>C (n.2622+23T>C) n.65-72368A>G c.2406+23T>C (n.2406+23T>C) c.2511+23T>C (n.2511+23T>C) c.2127+23T>C (n.2127+23T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193049C= | CA1182758225 | DPYD,DPYD-AS1 | c.2622+20G= (n.2622+20G=) n.65-72365C= c.2406+20G= (n.2406+20G=) c.2511+20G= (n.2511+20G=) c.2127+20G= (n.2127+20G=) | |
1 | g.97193049C>G | CA525177557 | DPYD,DPYD-AS1 | c.2622+20G>C (n.2622+20G>C) n.65-72365C>G c.2406+20G>C (n.2406+20G>C) c.2511+20G>C (n.2511+20G>C) c.2127+20G>C (n.2127+20G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193049C>T | CA1182758226 | DPYD,DPYD-AS1 | c.2622+20G>A (n.2622+20G>A) n.65-72365C>T c.2406+20G>A (n.2406+20G>A) c.2511+20G>A (n.2511+20G>A) c.2127+20G>A (n.2127+20G>A) | dbSNP |
1 | g.97193050A= | CA1182758227 | DPYD,DPYD-AS1 | c.2622+19T= (n.2622+19T=) n.65-72364A= c.2406+19T= (n.2406+19T=) c.2511+19T= (n.2511+19T=) c.2127+19T= (n.2127+19T=) | |
1 | g.97193050A>C | CA2646703686 | DPYD,DPYD-AS1 | c.2622+19T>G (n.2622+19T>G) n.65-72364A>C c.2406+19T>G (n.2406+19T>G) c.2511+19T>G (n.2511+19T>G) c.2127+19T>G (n.2127+19T>G) | gnomAD v4 |
1 | g.97193050A>G | CA1004767387 | DPYD,DPYD-AS1 | c.2622+19T>C (n.2622+19T>C) n.65-72364A>G c.2406+19T>C (n.2406+19T>C) c.2511+19T>C (n.2511+19T>C) c.2127+19T>C (n.2127+19T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.97193051G>A | CA2574442021 | DPYD,DPYD-AS1 | c.2622+18C>T (n.2622+18C>T) n.65-72363G>A c.2406+18C>T (n.2406+18C>T) c.2511+18C>T (n.2511+18C>T) c.2127+18C>T (n.2127+18C>T) | |
1 | g.97193051G= | CA1148716842 | DPYD,DPYD-AS1 | c.2622+18C= (n.2622+18C=) n.65-72363G= c.2406+18C= (n.2406+18C=) c.2511+18C= (n.2511+18C=) c.2127+18C= (n.2127+18C=) | |
1 | g.97193051G>T | CA962988 | DPYD,DPYD-AS1 | c.2622+18C>A (n.2622+18C>A) n.65-72363G>T c.2406+18C>A (n.2406+18C>A) c.2511+18C>A (n.2511+18C>A) c.2127+18C>A (n.2127+18C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193053A>G | CA2574442023 | DPYD,DPYD-AS1 | c.2622+16T>C (n.2622+16T>C) n.65-72361A>G c.2406+16T>C (n.2406+16T>C) c.2511+16T>C (n.2511+16T>C) c.2127+16T>C (n.2127+16T>C) | |
1 | g.97193053dup | CA2574442022 | DPYD,DPYD-AS1 | c.2622+16dup (n.2622+16dup) n.65-72361dup c.2406+16dup (n.2406+16dup) c.2511+16dup (n.2511+16dup) c.2127+16dup (n.2127+16dup) | |
1 | g.97193054G>A | CA962989 | DPYD,DPYD-AS1 | c.2622+15C>T (n.2622+15C>T) n.65-72360G>A c.2406+15C>T (n.2406+15C>T) c.2511+15C>T (n.2511+15C>T) c.2127+15C>T (n.2127+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97193054G= | CA1182758228 | DPYD,DPYD-AS1 | c.2622+15C= (n.2622+15C=) n.65-72360G= c.2406+15C= (n.2406+15C=) c.2511+15C= (n.2511+15C=) c.2127+15C= (n.2127+15C=) | |
1 | g.97193054G>T | CA525177558 | DPYD,DPYD-AS1 | c.2622+15C>A (n.2622+15C>A) n.65-72360G>T c.2406+15C>A (n.2406+15C>A) c.2511+15C>A (n.2511+15C>A) c.2127+15C>A (n.2127+15C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193055_97193072del | CA2646703687 | DPYD,DPYD-AS1 | c.2620_2622+15del n.65-72359_65-72342del c.2404_2406+15del c.2509_2511+15del c.2125_2127+15del | gnomAD v4 |
1 | g.97193055A= | CA1182758229 | DPYD,DPYD-AS1 | c.2622+14T= (n.2622+14T=) n.65-72359A= c.2406+14T= (n.2406+14T=) c.2511+14T= (n.2511+14T=) c.2127+14T= (n.2127+14T=) | |
1 | g.97193055A>T | CA27471508 | DPYD,DPYD-AS1 | c.2622+14T>A (n.2622+14T>A) n.65-72359A>T c.2406+14T>A (n.2406+14T>A) c.2511+14T>A (n.2511+14T>A) c.2127+14T>A (n.2127+14T>A) | dbSNP gnomAD v4 |
1 | g.97193056T>G | CA2646703688 | DPYD,DPYD-AS1 | c.2622+13A>C (n.2622+13A>C) n.65-72358T>G c.2406+13A>C (n.2406+13A>C) c.2511+13A>C (n.2511+13A>C) c.2127+13A>C (n.2127+13A>C) | gnomAD v4 |
1 | g.97193058T>A | CA1004767388 | DPYD,DPYD-AS1 | c.2622+11A>T (n.2622+11A>T) n.65-72356T>A c.2406+11A>T (n.2406+11A>T) c.2511+11A>T (n.2511+11A>T) c.2127+11A>T (n.2127+11A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.97193058T= | CA1182758230 | DPYD,DPYD-AS1 | c.2622+11A= (n.2622+11A=) n.65-72356T= c.2406+11A= (n.2406+11A=) c.2511+11A= (n.2511+11A=) c.2127+11A= (n.2127+11A=) | |
1 | g.97193061G>A | CA962990 | DPYD,DPYD-AS1 | c.2622+8C>T (n.2622+8C>T) n.65-72353G>A c.2406+8C>T (n.2406+8C>T) c.2511+8C>T (n.2511+8C>T) c.2127+8C>T (n.2127+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193061G= | CA1144021267 | DPYD,DPYD-AS1 | c.2622+8C= (n.2622+8C=) n.65-72353G= c.2406+8C= (n.2406+8C=) c.2511+8C= (n.2511+8C=) c.2127+8C= (n.2127+8C=) | |
1 | g.97193063A= | CA1148410287 | DPYD,DPYD-AS1 | c.2622+6T= (n.2622+6T=) n.65-72351A= c.2406+6T= (n.2406+6T=) c.2511+6T= (n.2511+6T=) c.2127+6T= (n.2127+6T=) | |
1 | g.97193063A>C | CA2574442024 | DPYD,DPYD-AS1 | c.2622+6T>G (n.2622+6T>G) n.65-72351A>C c.2406+6T>G (n.2406+6T>G) c.2511+6T>G (n.2511+6T>G) c.2127+6T>G (n.2127+6T>G) | |
1 | g.97193063A>G | CA962991 | DPYD,DPYD-AS1 | c.2622+6T>C (n.2622+6T>C) n.65-72351A>G c.2406+6T>C (n.2406+6T>C) c.2511+6T>C (n.2511+6T>C) c.2127+6T>C (n.2127+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193065A= | CA1182758231 | DPYD,DPYD-AS1 | c.2622+4T= (n.2622+4T=) n.65-72349A= c.2406+4T= (n.2406+4T=) c.2511+4T= (n.2511+4T=) c.2127+4T= (n.2127+4T=) | |
1 | g.97193065A>C | CA525177559 | DPYD,DPYD-AS1 | c.2622+4T>G (n.2622+4T>G) n.65-72349A>C c.2406+4T>G (n.2406+4T>G) c.2511+4T>G (n.2511+4T>G) c.2127+4T>G (n.2127+4T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193066T>C | CA525177560 | DPYD,DPYD-AS1 | c.2622+3A>G (n.2622+3A>G) n.65-72348T>C c.2406+3A>G (n.2406+3A>G) c.2511+3A>G (n.2511+3A>G) c.2127+3A>G (n.2127+3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193066T= | CA1182758232 | DPYD,DPYD-AS1 | c.2622+3A= (n.2622+3A=) n.65-72348T= c.2406+3A= (n.2406+3A=) c.2511+3A= (n.2511+3A=) c.2127+3A= (n.2127+3A=) | |
1 | g.97193067A>C | CA341373265 | DPYD,DPYD-AS1 | c.2622+2T>G (n.2622+2T>G) n.65-72347A>C c.2406+2T>G (n.2406+2T>G) c.2511+2T>G (n.2511+2T>G) c.2127+2T>G (n.2127+2T>G) | |
1 | g.97193067A>G | CA341373263 | DPYD,DPYD-AS1 | c.2622+2T>C (n.2622+2T>C) n.65-72347A>G c.2406+2T>C (n.2406+2T>C) c.2511+2T>C (n.2511+2T>C) c.2127+2T>C (n.2127+2T>C) | |
1 | g.97193067A>T | CA341373264 | DPYD,DPYD-AS1 | c.2622+2T>A (n.2622+2T>A) n.65-72347A>T c.2406+2T>A (n.2406+2T>A) c.2511+2T>A (n.2511+2T>A) c.2127+2T>A (n.2127+2T>A) | |
1 | g.97193068C>A | CA341373266 | DPYD,DPYD-AS1 | c.2622+1G>T (n.2622+1G>T) n.65-72346C>A c.2406+1G>T (n.2406+1G>T) c.2511+1G>T (n.2511+1G>T) c.2127+1G>T (n.2127+1G>T) | |
1 | g.97193068C= | CA1182758233 | DPYD,DPYD-AS1 | c.2622+1G= (n.2622+1G=) n.65-72346C= c.2406+1G= (n.2406+1G=) c.2511+1G= (n.2511+1G=) c.2127+1G= (n.2127+1G=) | |
1 | g.97193068C>G | CA341373267 | DPYD,DPYD-AS1 | c.2622+1G>C (n.2622+1G>C) n.65-72346C>G c.2406+1G>C (n.2406+1G>C) c.2511+1G>C (n.2511+1G>C) c.2127+1G>C (n.2127+1G>C) | |
1 | g.97193068C>T | CA16040791 | DPYD,DPYD-AS1 | c.2622+1G>A (n.2622+1G>A) n.65-72346C>T c.2406+1G>A (n.2406+1G>A) c.2511+1G>A (n.2511+1G>A) c.2127+1G>A (n.2127+1G>A) | ClinVar dbSNP COSMIC |
1 | g.97193069C>A | CA341373268 | DPYD,DPYD-AS1 | c.2622G>T (p.Lys874Asn) n.65-72345C>A c.2406G>T (p.Lys802Asn) c.2511G>T (p.Lys837Asn) c.2127G>T (p.Lys709Asn) | gnomAD v4 |
1 | g.97193069C>G | CA341373269 | DPYD,DPYD-AS1 | c.2622G>C (p.Lys874Asn) n.65-72345C>G c.2406G>C (p.Lys802Asn) c.2511G>C (p.Lys837Asn) c.2127G>C (p.Lys709Asn) | |
1 | g.97193069C>T | CA419137060 | DPYD,DPYD-AS1 | c.2622G>A (p.Lys874=) n.65-72345C>T c.2406G>A (p.Lys802=) c.2511G>A (p.Lys837=) c.2127G>A (p.Lys709=) | |
1 | g.97193070T>A | CA341373270 | DPYD,DPYD-AS1 | c.2621A>T (p.Lys874Met) n.65-72344T>A c.2405A>T (p.Lys802Met) c.2510A>T (p.Lys837Met) c.2126A>T (p.Lys709Met) | |
1 | g.97193070T>C | CA341373271 | DPYD,DPYD-AS1 | c.2621A>G (p.Lys874Arg) n.65-72344T>C c.2405A>G (p.Lys802Arg) c.2510A>G (p.Lys837Arg) c.2126A>G (p.Lys709Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193070T>G | CA341373272 | DPYD,DPYD-AS1 | c.2621A>C (p.Lys874Thr) n.65-72344T>G c.2405A>C (p.Lys802Thr) c.2510A>C (p.Lys837Thr) c.2126A>C (p.Lys709Thr) | |
1 | g.97193070T= | CA1182758234 | DPYD,DPYD-AS1 | c.2621A= (p.Lys874=) n.65-72344T= c.2405A= (p.Lys802=) c.2510A= (p.Lys837=) c.2126A= (p.Lys709=) | |
1 | g.97193071T>A | CA341373273 | DPYD,DPYD-AS1 | c.2620A>T (p.Lys874Ter) n.65-72343T>A c.2404A>T (p.Lys802Ter) c.2509A>T (p.Lys837Ter) c.2125A>T (p.Lys709Ter) | |
1 | g.97193071T>C | CA962992 | DPYD,DPYD-AS1 | c.2620A>G (p.Lys874Glu) n.65-72343T>C c.2404A>G (p.Lys802Glu) c.2509A>G (p.Lys837Glu) c.2125A>G (p.Lys709Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193071T>G | CA341373274 | DPYD,DPYD-AS1 | c.2620A>C (p.Lys874Gln) n.65-72343T>G c.2404A>C (p.Lys802Gln) c.2509A>C (p.Lys837Gln) c.2125A>C (p.Lys709Gln) | |
1 | g.97193071T= | CA1143602305 | DPYD,DPYD-AS1 | c.2620A= (p.Lys874=) n.65-72343T= c.2404A= (p.Lys802=) c.2509A= (p.Lys837=) c.2125A= (p.Lys709=) | |
1 | g.97193072G>A | CA419137061 | DPYD,DPYD-AS1 | c.2619C>T (p.Asp873=) n.65-72342G>A c.2403C>T (p.Asp801=) c.2508C>T (p.Asp836=) c.2124C>T (p.Asp708=) | |
1 | g.97193072G>C | CA962993 | DPYD,DPYD-AS1 | c.2619C>G (p.Asp873Glu) n.65-72342G>C c.2403C>G (p.Asp801Glu) c.2508C>G (p.Asp836Glu) c.2124C>G (p.Asp708Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.97193072G= | CA1182758235 | DPYD,DPYD-AS1 | c.2619C= (p.Asp873=) n.65-72342G= c.2403C= (p.Asp801=) c.2508C= (p.Asp836=) c.2124C= (p.Asp708=) | |
1 | g.97193072G>T | CA341373275 | DPYD,DPYD-AS1 | c.2619C>A (p.Asp873Glu) n.65-72342G>T c.2403C>A (p.Asp801Glu) c.2508C>A (p.Asp836Glu) c.2124C>A (p.Asp708Glu) | gnomAD v4 |
1 | g.97193073T>A | CA341373276 | DPYD,DPYD-AS1 | c.2618A>T (p.Asp873Val) n.65-72341T>A c.2402A>T (p.Asp801Val) c.2507A>T (p.Asp836Val) c.2123A>T (p.Asp708Val) | |
1 | g.97193073T>C | CA341373277 | DPYD,DPYD-AS1 | c.2618A>G (p.Asp873Gly) n.65-72341T>C c.2402A>G (p.Asp801Gly) c.2507A>G (p.Asp836Gly) c.2123A>G (p.Asp708Gly) | dbSNP gnomAD v4 |
1 | g.97193073T>G | CA341373278 | DPYD,DPYD-AS1 | c.2618A>C (p.Asp873Ala) n.65-72341T>G c.2402A>C (p.Asp801Ala) c.2507A>C (p.Asp836Ala) c.2123A>C (p.Asp708Ala) | |
1 | g.97193073T= | CA1182758236 | DPYD,DPYD-AS1 | c.2618A= (p.Asp873=) n.65-72341T= c.2402A= (p.Asp801=) c.2507A= (p.Asp836=) c.2123A= (p.Asp708=) | |
1 | g.97193074C>A | CA341373279 | DPYD,DPYD-AS1 | c.2617G>T (p.Asp873Tyr) n.65-72340C>A c.2401G>T (p.Asp801Tyr) c.2506G>T (p.Asp836Tyr) c.2122G>T (p.Asp708Tyr) | |
1 | g.97193074C>G | CA341373280 | DPYD,DPYD-AS1 | c.2617G>C (p.Asp873His) n.65-72340C>G c.2401G>C (p.Asp801His) c.2506G>C (p.Asp836His) c.2122G>C (p.Asp708His) | |
1 | g.97193074C>T | CA341373281 | DPYD,DPYD-AS1 | c.2617G>A (p.Asp873Asn) n.65-72340C>T c.2401G>A (p.Asp801Asn) c.2506G>A (p.Asp836Asn) c.2122G>A (p.Asp708Asn) | COSMIC |
1 | g.97193075C>A | CA341373282 | DPYD,DPYD-AS1 | c.2616G>T (p.Met872Ile) n.65-72339C>A c.2400G>T (p.Met800Ile) c.2505G>T (p.Met835Ile) c.2121G>T (p.Met707Ile) | |
1 | g.97193075C>G | CA341373283 | DPYD,DPYD-AS1 | c.2616G>C (p.Met872Ile) n.65-72339C>G c.2400G>C (p.Met800Ile) c.2505G>C (p.Met835Ile) c.2121G>C (p.Met707Ile) | |
1 | g.97193075C>T | CA341373284 | DPYD,DPYD-AS1 | c.2616G>A (p.Met872Ile) n.65-72339C>T c.2400G>A (p.Met800Ile) c.2505G>A (p.Met835Ile) c.2121G>A (p.Met707Ile) | |
1 | g.97193076A= | CA1182758238 | DPYD,DPYD-AS1 | c.2615T= (p.Met872=) n.65-72338A= c.2399T= (p.Met800=) c.2504T= (p.Met835=) c.2120T= (p.Met707=) | |
1 | g.97193076A>C | CA341373285 | DPYD,DPYD-AS1 | c.2615T>G (p.Met872Arg) n.65-72338A>C c.2399T>G (p.Met800Arg) c.2504T>G (p.Met835Arg) c.2120T>G (p.Met707Arg) | |
1 | g.97193076A>G | CA341373286 | DPYD,DPYD-AS1 | c.2615T>C (p.Met872Thr) n.65-72338A>G c.2399T>C (p.Met800Thr) c.2504T>C (p.Met835Thr) c.2120T>C (p.Met707Thr) | dbSNP gnomAD v4 |
1 | g.97193076A>T | CA341373287 | DPYD,DPYD-AS1 | c.2615T>A (p.Met872Lys) n.65-72338A>T c.2399T>A (p.Met800Lys) c.2504T>A (p.Met835Lys) c.2120T>A (p.Met707Lys) | |
1 | g.97193076_97193092delinsATGAGTTCAGCTATACG | CA1182758237 | DPYD,DPYD-AS1 | c.2599_2615delinsCGTATAGCTGAACTCAT (p.Arg867=) n.65-72338_65-72322delinsATGAGTTCAGCTATACG c.2383_2399delinsCGTATAGCTGAACTCAT (p.Arg795=) c.2488_2504delinsCGTATAGCTGAACTCAT (p.Arg830=) c.2104_2120delinsCGTATAGCTGAACTCAT (p.Arg702=) | |
1 | g.97193077T>A | CA341373290 | DPYD,DPYD-AS1 | c.2614A>T (p.Met872Leu) n.65-72337T>A c.2398A>T (p.Met800Leu) c.2503A>T (p.Met835Leu) c.2119A>T (p.Met707Leu) | |
1 | g.97193077T>C | CA341373289 | DPYD,DPYD-AS1 | c.2614A>G (p.Met872Val) n.65-72337T>C c.2398A>G (p.Met800Val) c.2503A>G (p.Met835Val) c.2119A>G (p.Met707Val) | |
1 | g.97193077T>G | CA341373288 | DPYD,DPYD-AS1 | c.2614A>C (p.Met872Leu) n.65-72337T>G c.2398A>C (p.Met800Leu) c.2503A>C (p.Met835Leu) c.2119A>C (p.Met707Leu) | |
1 | g.97193079_97193094del | CA525177561 | DPYD,DPYD-AS1 | c.2599_2614del (p.Arg867TrpfsTer19) n.65-72335_65-72320del c.2383_2398del (p.Arg795TrpfsTer19) c.2599_2614del (p.Arg867TrpfsTer11) c.2488_2503del (p.Arg830TrpfsTer19) c.2104_2119del (p.Arg702TrpfsTer19) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193078G>A | CA419137063 | DPYD,DPYD-AS1 | c.2613C>T (p.Leu871=) n.65-72336G>A c.2397C>T (p.Leu799=) c.2502C>T (p.Leu834=) c.2118C>T (p.Leu706=) | dbSNP |
1 | g.97193078G>C | CA419137065 | DPYD,DPYD-AS1 | c.2613C>G (p.Leu871=) n.65-72336G>C c.2397C>G (p.Leu799=) c.2502C>G (p.Leu834=) c.2118C>G (p.Leu706=) | |
1 | g.97193078G= | CA1182758239 | DPYD,DPYD-AS1 | c.2613C= (p.Leu871=) n.65-72336G= c.2397C= (p.Leu799=) c.2502C= (p.Leu834=) c.2118C= (p.Leu706=) | |
1 | g.97193078G>T | CA419137066 | DPYD,DPYD-AS1 | c.2613C>A (p.Leu871=) n.65-72336G>T c.2397C>A (p.Leu799=) c.2502C>A (p.Leu834=) c.2118C>A (p.Leu706=) | gnomAD v4 |
1 | g.97193079A>C | CA341373291 | DPYD,DPYD-AS1 | c.2612T>G (p.Leu871Arg) n.65-72335A>C c.2396T>G (p.Leu799Arg) c.2501T>G (p.Leu834Arg) c.2117T>G (p.Leu706Arg) | |
1 | g.97193079A>G | CA341373292 | DPYD,DPYD-AS1 | c.2612T>C (p.Leu871Pro) n.65-72335A>G c.2396T>C (p.Leu799Pro) c.2501T>C (p.Leu834Pro) c.2117T>C (p.Leu706Pro) | |
1 | g.97193079A>T | CA341373293 | DPYD,DPYD-AS1 | c.2612T>A (p.Leu871His) n.65-72335A>T c.2396T>A (p.Leu799His) c.2501T>A (p.Leu834His) c.2117T>A (p.Leu706His) | |
1 | g.97193080G>A | CA341373294 | DPYD,DPYD-AS1 | c.2611C>T (p.Leu871Phe) n.65-72334G>A c.2395C>T (p.Leu799Phe) c.2500C>T (p.Leu834Phe) c.2116C>T (p.Leu706Phe) | dbSNP gnomAD v4 |
1 | g.97193080G>C | CA341373295 | DPYD,DPYD-AS1 | c.2611C>G (p.Leu871Val) n.65-72334G>C c.2395C>G (p.Leu799Val) c.2500C>G (p.Leu834Val) c.2116C>G (p.Leu706Val) | |
1 | g.97193080G= | CA1182758240 | DPYD,DPYD-AS1 | c.2611C= (p.Leu871=) n.65-72334G= c.2395C= (p.Leu799=) c.2500C= (p.Leu834=) c.2116C= (p.Leu706=) | |
1 | g.97193080G>T | CA341373296 | DPYD,DPYD-AS1 | c.2611C>A (p.Leu871Ile) n.65-72334G>T c.2395C>A (p.Leu799Ile) c.2500C>A (p.Leu834Ile) c.2116C>A (p.Leu706Ile) | |
1 | g.97193081T>A | CA962994 | DPYD,DPYD-AS1 | c.2610A>T (p.Glu870Asp) n.65-72333T>A c.2394A>T (p.Glu798Asp) c.2499A>T (p.Glu833Asp) c.2115A>T (p.Glu705Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193081T>C | CA27471509 | DPYD,DPYD-AS1 | c.2610A>G (p.Glu870=) n.65-72333T>C c.2394A>G (p.Glu798=) c.2499A>G (p.Glu833=) c.2115A>G (p.Glu705=) | dbSNP |
1 | g.97193081T>G | CA341373297 | DPYD,DPYD-AS1 | c.2610A>C (p.Glu870Asp) n.65-72333T>G c.2394A>C (p.Glu798Asp) c.2499A>C (p.Glu833Asp) c.2115A>C (p.Glu705Asp) | |
1 | g.97193081T= | CA1149128704 | DPYD,DPYD-AS1 | c.2610A= (p.Glu870=) n.65-72333T= c.2394A= (p.Glu798=) c.2499A= (p.Glu833=) c.2115A= (p.Glu705=) | |
1 | g.97193082T>A | CA341373298 | DPYD,DPYD-AS1 | c.2609A>T (p.Glu870Val) n.65-72332T>A c.2393A>T (p.Glu798Val) c.2498A>T (p.Glu833Val) c.2114A>T (p.Glu705Val) | |
1 | g.97193082T>C | CA341373299 | DPYD,DPYD-AS1 | c.2609A>G (p.Glu870Gly) n.65-72332T>C c.2393A>G (p.Glu798Gly) c.2498A>G (p.Glu833Gly) c.2114A>G (p.Glu705Gly) | |
1 | g.97193082T>G | CA341373300 | DPYD,DPYD-AS1 | c.2609A>C (p.Glu870Ala) n.65-72332T>G c.2393A>C (p.Glu798Ala) c.2498A>C (p.Glu833Ala) c.2114A>C (p.Glu705Ala) | |
1 | g.97193083C>A | CA341373301 | DPYD,DPYD-AS1 | c.2608G>T (p.Glu870Ter) n.65-72331C>A c.2392G>T (p.Glu798Ter) c.2497G>T (p.Glu833Ter) c.2113G>T (p.Glu705Ter) | |
1 | g.97193083C>G | CA341373302 | DPYD,DPYD-AS1 | c.2608G>C (p.Glu870Gln) n.65-72331C>G c.2392G>C (p.Glu798Gln) c.2497G>C (p.Glu833Gln) c.2113G>C (p.Glu705Gln) | |
1 | g.97193083C>T | CA341373303 | DPYD,DPYD-AS1 | c.2608G>A (p.Glu870Lys) n.65-72331C>T c.2392G>A (p.Glu798Lys) c.2497G>A (p.Glu833Lys) c.2113G>A (p.Glu705Lys) | gnomAD v4 COSMIC |
1 | g.97193084A>C | CA419137067 | DPYD,DPYD-AS1 | c.2607T>G (p.Ala869=) n.65-72330A>C c.2391T>G (p.Ala797=) c.2496T>G (p.Ala832=) c.2112T>G (p.Ala704=) | |
1 | g.97193084A>G | CA419137068 | DPYD,DPYD-AS1 | c.2607T>C (p.Ala869=) n.65-72330A>G c.2391T>C (p.Ala797=) c.2496T>C (p.Ala832=) c.2112T>C (p.Ala704=) | |
1 | g.97193084A>T | CA419137069 | DPYD,DPYD-AS1 | c.2607T>A (p.Ala869=) n.65-72330A>T c.2391T>A (p.Ala797=) c.2496T>A (p.Ala832=) c.2112T>A (p.Ala704=) | |
1 | g.97193085G>A | CA341373306 | DPYD,DPYD-AS1 | c.2606C>T (p.Ala869Val) n.65-72329G>A c.2390C>T (p.Ala797Val) c.2495C>T (p.Ala832Val) c.2111C>T (p.Ala704Val) | |
1 | g.97193085G>C | CA341373304 | DPYD,DPYD-AS1 | c.2606C>G (p.Ala869Gly) n.65-72329G>C c.2390C>G (p.Ala797Gly) c.2495C>G (p.Ala832Gly) c.2111C>G (p.Ala704Gly) | |
1 | g.97193085G>T | CA341373305 | DPYD,DPYD-AS1 | c.2606C>A (p.Ala869Asp) n.65-72329G>T c.2390C>A (p.Ala797Asp) c.2495C>A (p.Ala832Asp) c.2111C>A (p.Ala704Asp) | |
1 | g.97193086C>A | CA341373307 | DPYD,DPYD-AS1 | c.2605G>T (p.Ala869Ser) n.65-72328C>A c.2389G>T (p.Ala797Ser) c.2494G>T (p.Ala832Ser) c.2110G>T (p.Ala704Ser) | |
1 | g.97193086C= | CA1182758241 | DPYD,DPYD-AS1 | c.2605G= (p.Ala869=) n.65-72328C= c.2389G= (p.Ala797=) c.2494G= (p.Ala832=) c.2110G= (p.Ala704=) | |
1 | g.97193086C>G | CA27471510 | DPYD,DPYD-AS1 | c.2605G>C (p.Ala869Pro) n.65-72328C>G c.2389G>C (p.Ala797Pro) c.2494G>C (p.Ala832Pro) c.2110G>C (p.Ala704Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193086C>T | CA341373308 | DPYD,DPYD-AS1 | c.2605G>A (p.Ala869Thr) n.65-72328C>T c.2389G>A (p.Ala797Thr) c.2494G>A (p.Ala832Thr) c.2110G>A (p.Ala704Thr) | |
1 | g.97193087T>A | CA419137072 | DPYD,DPYD-AS1 | c.2604A>T (p.Ile868=) n.65-72327T>A c.2388A>T (p.Ile796=) c.2493A>T (p.Ile831=) c.2109A>T (p.Ile703=) | |
1 | g.97193087T>C | CA962995 | DPYD,DPYD-AS1 | c.2604A>G (p.Ile868Met) n.65-72327T>C c.2388A>G (p.Ile796Met) c.2493A>G (p.Ile831Met) c.2109A>G (p.Ile703Met) | dbSNP ExAC |
1 | g.97193087T>G | CA419137071 | DPYD,DPYD-AS1 | c.2604A>C (p.Ile868=) n.65-72327T>G c.2388A>C (p.Ile796=) c.2493A>C (p.Ile831=) c.2109A>C (p.Ile703=) | |
1 | g.97193087T= | CA1143893829 | DPYD,DPYD-AS1 | c.2604A= (p.Ile868=) n.65-72327T= c.2388A= (p.Ile796=) c.2493A= (p.Ile831=) c.2109A= (p.Ile703=) | |
1 | g.97193088A>C | CA341373309 | DPYD,DPYD-AS1 | c.2603T>G (p.Ile868Arg) n.65-72326A>C c.2387T>G (p.Ile796Arg) c.2492T>G (p.Ile831Arg) c.2108T>G (p.Ile703Arg) | |
1 | g.97193088A>G | CA341373310 | DPYD,DPYD-AS1 | c.2603T>C (p.Ile868Thr) n.65-72326A>G c.2387T>C (p.Ile796Thr) c.2492T>C (p.Ile831Thr) c.2108T>C (p.Ile703Thr) | |
1 | g.97193088A>T | CA341373311 | DPYD,DPYD-AS1 | c.2603T>A (p.Ile868Lys) n.65-72326A>T c.2387T>A (p.Ile796Lys) c.2492T>A (p.Ile831Lys) c.2108T>A (p.Ile703Lys) | |
1 | g.97193089T>A | CA341373312 | DPYD,DPYD-AS1 | c.2602A>T (p.Ile868Leu) n.65-72325T>A c.2386A>T (p.Ile796Leu) c.2491A>T (p.Ile831Leu) c.2107A>T (p.Ile703Leu) | |
1 | g.97193089T>C | CA341373313 | DPYD,DPYD-AS1 | c.2602A>G (p.Ile868Val) n.65-72325T>C c.2386A>G (p.Ile796Val) c.2491A>G (p.Ile831Val) c.2107A>G (p.Ile703Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193089T>G | CA341373314 | DPYD,DPYD-AS1 | c.2602A>C (p.Ile868Leu) n.65-72325T>G c.2386A>C (p.Ile796Leu) c.2491A>C (p.Ile831Leu) c.2107A>C (p.Ile703Leu) | |
1 | g.97193089T= | CA1182758242 | DPYD,DPYD-AS1 | c.2602A= (p.Ile868=) n.65-72325T= c.2386A= (p.Ile796=) c.2491A= (p.Ile831=) c.2107A= (p.Ile703=) | |
1 | g.97193090A>C | CA419137073 | DPYD,DPYD-AS1 | c.2601T>G (p.Arg867=) n.65-72324A>C c.2385T>G (p.Arg795=) c.2490T>G (p.Arg830=) c.2106T>G (p.Arg702=) | |
1 | g.97193090A>G | CA419137074 | DPYD,DPYD-AS1 | c.2601T>C (p.Arg867=) n.65-72324A>G c.2385T>C (p.Arg795=) c.2490T>C (p.Arg830=) c.2106T>C (p.Arg702=) | |
1 | g.97193090A>T | CA419137076 | DPYD,DPYD-AS1 | c.2601T>A (p.Arg867=) n.65-72324A>T c.2385T>A (p.Arg795=) c.2490T>A (p.Arg830=) c.2106T>A (p.Arg702=) | |
1 | g.97193091C>A | CA341373315 | DPYD,DPYD-AS1 | c.2600G>T (p.Arg867Leu) n.65-72323C>A c.2384G>T (p.Arg795Leu) c.2489G>T (p.Arg830Leu) c.2105G>T (p.Arg702Leu) | gnomAD v4 COSMIC |
1 | g.97193091C= | CA1182758243 | DPYD,DPYD-AS1 | c.2600G= (p.Arg867=) n.65-72323C= c.2384G= (p.Arg795=) c.2489G= (p.Arg830=) c.2105G= (p.Arg702=) | |
1 | g.97193091C>G | CA341373316 | DPYD,DPYD-AS1 | c.2600G>C (p.Arg867Pro) n.65-72323C>G c.2384G>C (p.Arg795Pro) c.2489G>C (p.Arg830Pro) c.2105G>C (p.Arg702Pro) | gnomAD v4 |
1 | g.97193091C>T | CA962996 | DPYD,DPYD-AS1 | c.2600G>A (p.Arg867His) n.65-72323C>T c.2384G>A (p.Arg795His) c.2489G>A (p.Arg830His) c.2105G>A (p.Arg702His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193092G>A | CA962997 | DPYD,DPYD-AS1 | c.2599C>T (p.Arg867Cys) n.65-72322G>A c.2383C>T (p.Arg795Cys) c.2488C>T (p.Arg830Cys) c.2104C>T (p.Arg702Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193092G>C | CA341373318 | DPYD,DPYD-AS1 | c.2599C>G (p.Arg867Gly) n.65-72322G>C c.2383C>G (p.Arg795Gly) c.2488C>G (p.Arg830Gly) c.2104C>G (p.Arg702Gly) | |
1 | g.97193092G= | CA1146518394 | DPYD,DPYD-AS1 | c.2599C= (p.Arg867=) n.65-72322G= c.2383C= (p.Arg795=) c.2488C= (p.Arg830=) c.2104C= (p.Arg702=) | |
1 | g.97193092G>T | CA341373317 | DPYD,DPYD-AS1 | c.2599C>A (p.Arg867Ser) n.65-72322G>T c.2383C>A (p.Arg795Ser) c.2488C>A (p.Arg830Ser) c.2104C>A (p.Arg702Ser) | |
1 | g.97193093T>A | CA419137077 | DPYD,DPYD-AS1 | c.2598A>T (p.Pro866=) n.65-72321T>A c.2382A>T (p.Pro794=) c.2487A>T (p.Pro829=) c.2103A>T (p.Pro701=) | |
1 | g.97193093T>C | CA228081 | DPYD,DPYD-AS1 | c.2598A>G (p.Pro866=) n.65-72321T>C c.2382A>G (p.Pro794=) c.2487A>G (p.Pro829=) c.2103A>G (p.Pro701=) | ClinVar dbSNP |
1 | g.97193093T>G | CA419137078 | DPYD,DPYD-AS1 | c.2598A>C (p.Pro866=) n.65-72321T>G c.2382A>C (p.Pro794=) c.2487A>C (p.Pro829=) c.2103A>C (p.Pro701=) | |
1 | g.97193093T= | CA1148224413 | DPYD,DPYD-AS1 | c.2598A= (p.Pro866=) n.65-72321T= c.2382A= (p.Pro794=) c.2487A= (p.Pro829=) c.2103A= (p.Pro701=) | |
1 | g.97193094G>A | CA341373319 | DPYD,DPYD-AS1 | c.2597C>T (p.Pro866Leu) n.65-72320G>A c.2381C>T (p.Pro794Leu) c.2486C>T (p.Pro829Leu) c.2102C>T (p.Pro701Leu) | |
1 | g.97193094G>C | CA341373320 | DPYD,DPYD-AS1 | c.2597C>G (p.Pro866Arg) n.65-72320G>C c.2381C>G (p.Pro794Arg) c.2486C>G (p.Pro829Arg) c.2102C>G (p.Pro701Arg) | |
1 | g.97193094G>T | CA341373321 | DPYD,DPYD-AS1 | c.2597C>A (p.Pro866Gln) n.65-72320G>T c.2381C>A (p.Pro794Gln) c.2486C>A (p.Pro829Gln) c.2102C>A (p.Pro701Gln) | |
1 | g.97193095G>A | CA341373322 | DPYD,DPYD-AS1 | c.2596C>T (p.Pro866Ser) n.65-72319G>A c.2380C>T (p.Pro794Ser) c.2485C>T (p.Pro829Ser) c.2101C>T (p.Pro701Ser) | gnomAD v4 |
1 | g.97193095G>C | CA962998 | DPYD,DPYD-AS1 | c.2596C>G (p.Pro866Ala) n.65-72319G>C c.2380C>G (p.Pro794Ala) c.2485C>G (p.Pro829Ala) c.2101C>G (p.Pro701Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97193095G= | CA1182758244 | DPYD,DPYD-AS1 | c.2596C= (p.Pro866=) n.65-72319G= c.2380C= (p.Pro794=) c.2485C= (p.Pro829=) c.2101C= (p.Pro701=) | |
1 | g.97193095G>T | CA341373323 | DPYD,DPYD-AS1 | c.2596C>A (p.Pro866Thr) n.65-72319G>T c.2380C>A (p.Pro794Thr) c.2485C>A (p.Pro829Thr) c.2101C>A (p.Pro701Thr) | |
1 | g.97193095_97193098del | CA2646703689 | DPYD,DPYD-AS1 | c.2593_2596del (p.Val865HisfsTer3) n.65-72319_65-72316del c.2377_2380del (p.Val793HisfsTer3) c.2482_2485del (p.Val828HisfsTer3) c.2098_2101del (p.Val700HisfsTer3) | gnomAD v4 |
1 | g.97193096A>C | CA419137079 | DPYD,DPYD-AS1 | c.2595T>G (p.Val865=) n.65-72318A>C c.2379T>G (p.Val793=) c.2484T>G (p.Val828=) c.2100T>G (p.Val700=) | gnomAD v4 |
1 | g.97193096A>G | CA419137080 | DPYD,DPYD-AS1 | c.2595T>C (p.Val865=) n.65-72318A>G c.2379T>C (p.Val793=) c.2484T>C (p.Val828=) c.2100T>C (p.Val700=) | |
1 | g.97193096A>T | CA419137081 | DPYD,DPYD-AS1 | c.2595T>A (p.Val865=) n.65-72318A>T c.2379T>A (p.Val793=) c.2484T>A (p.Val828=) c.2100T>A (p.Val700=) | |
1 | g.97193097A>C | CA341373324 | DPYD,DPYD-AS1 | c.2594T>G (p.Val865Gly) n.65-72317A>C c.2378T>G (p.Val793Gly) c.2483T>G (p.Val828Gly) c.2099T>G (p.Val700Gly) | |
1 | g.97193097A>G | CA341373325 | DPYD,DPYD-AS1 | c.2594T>C (p.Val865Ala) n.65-72317A>G c.2378T>C (p.Val793Ala) c.2483T>C (p.Val828Ala) c.2099T>C (p.Val700Ala) | |
1 | g.97193097A>T | CA341373326 | DPYD,DPYD-AS1 | c.2594T>A (p.Val865Asp) n.65-72317A>T c.2378T>A (p.Val793Asp) c.2483T>A (p.Val828Asp) c.2099T>A (p.Val700Asp) | |
1 | g.97193098C>A | CA963000 | DPYD,DPYD-AS1 | c.2593G>T (p.Val865Phe) n.65-72316C>A c.2377G>T (p.Val793Phe) c.2482G>T (p.Val828Phe) c.2098G>T (p.Val700Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.97193098C= | CA1182758245 | DPYD,DPYD-AS1 | c.2593G= (p.Val865=) n.65-72316C= c.2377G= (p.Val793=) c.2482G= (p.Val828=) c.2098G= (p.Val700=) | |
1 | g.97193098C>G | CA341373327 | DPYD,DPYD-AS1 | c.2593G>C (p.Val865Leu) n.65-72316C>G c.2377G>C (p.Val793Leu) c.2482G>C (p.Val828Leu) c.2098G>C (p.Val700Leu) | |
1 | g.97193098C>T | CA962999 | DPYD,DPYD-AS1 | c.2593G>A (p.Val865Ile) n.65-72316C>T c.2377G>A (p.Val793Ile) c.2482G>A (p.Val828Ile) c.2098G>A (p.Val700Ile) | dbSNP ExAC |
1 | g.97193099T>A | CA419137082 | DPYD,DPYD-AS1 | c.2592A>T (p.Pro864=) n.65-72315T>A c.2376A>T (p.Pro792=) c.2481A>T (p.Pro827=) c.2097A>T (p.Pro699=) | |
1 | g.97193099T>C | CA419137083 | DPYD,DPYD-AS1 | c.2592A>G (p.Pro864=) n.65-72315T>C c.2376A>G (p.Pro792=) c.2481A>G (p.Pro827=) c.2097A>G (p.Pro699=) | gnomAD v4 |
1 | g.97193099T>G | CA419137084 | DPYD,DPYD-AS1 | c.2592A>C (p.Pro864=) n.65-72315T>G c.2376A>C (p.Pro792=) c.2481A>C (p.Pro827=) c.2097A>C (p.Pro699=) | |
1 | g.97193100G>A | CA341373328 | DPYD,DPYD-AS1 | c.2591C>T (p.Pro864Leu) n.65-72314G>A c.2375C>T (p.Pro792Leu) c.2480C>T (p.Pro827Leu) c.2096C>T (p.Pro699Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97193100G>C | CA341373330 | DPYD,DPYD-AS1 | c.2591C>G (p.Pro864Arg) n.65-72314G>C c.2375C>G (p.Pro792Arg) c.2480C>G (p.Pro827Arg) c.2096C>G (p.Pro699Arg) | |
1 | g.97193100G= | CA1182758246 | DPYD,DPYD-AS1 | c.2591C= (p.Pro864=) n.65-72314G= c.2375C= (p.Pro792=) c.2480C= (p.Pro827=) c.2096C= (p.Pro699=) | |
1 | g.97193100G>T | CA341373329 | DPYD,DPYD-AS1 | c.2591C>A (p.Pro864Gln) n.65-72314G>T c.2375C>A (p.Pro792Gln) c.2480C>A (p.Pro827Gln) c.2096C>A (p.Pro699Gln) | |
1 | g.97193101G>A | CA341373331 | DPYD,DPYD-AS1 | c.2590C>T (p.Pro864Ser) n.65-72313G>A c.2374C>T (p.Pro792Ser) c.2479C>T (p.Pro827Ser) c.2095C>T (p.Pro699Ser) | |
1 | g.97193101G>C | CA963001 | DPYD,DPYD-AS1 | c.2590C>G (p.Pro864Ala) n.65-72313G>C c.2374C>G (p.Pro792Ala) c.2479C>G (p.Pro827Ala) c.2095C>G (p.Pro699Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97193101G= | CA1182758247 | DPYD,DPYD-AS1 | c.2590C= (p.Pro864=) n.65-72313G= c.2374C= (p.Pro792=) c.2479C= (p.Pro827=) c.2095C= (p.Pro699=) | |
1 | g.97193101G>T | CA341373332 | DPYD,DPYD-AS1 | c.2590C>A (p.Pro864Thr) n.65-72313G>T c.2374C>A (p.Pro792Thr) c.2479C>A (p.Pro827Thr) c.2095C>A (p.Pro699Thr) | |
1 | g.97193102T>A | CA341373333 | DPYD,DPYD-AS1 | c.2589A>T (p.Lys863Asn) n.65-72312T>A c.2373A>T (p.Lys791Asn) c.2478A>T (p.Lys826Asn) c.2094A>T (p.Lys698Asn) | |
1 | g.97193102T>C | CA419137085 | DPYD,DPYD-AS1 | c.2589A>G (p.Lys863=) n.65-72312T>C c.2373A>G (p.Lys791=) c.2478A>G (p.Lys826=) c.2094A>G (p.Lys698=) | dbSNP gnomAD v2 |
1 | g.97193102T>G | CA341373334 | DPYD,DPYD-AS1 | c.2589A>C (p.Lys863Asn) n.65-72312T>G c.2373A>C (p.Lys791Asn) c.2478A>C (p.Lys826Asn) c.2094A>C (p.Lys698Asn) | |
1 | g.97193102T= | CA1182758248 | DPYD,DPYD-AS1 | c.2589A= (p.Lys863=) n.65-72312T= c.2373A= (p.Lys791=) c.2478A= (p.Lys826=) c.2094A= (p.Lys698=) | |
1 | g.97193104dup | CA16040792 | DPYD,DPYD-AS1 | c.2589dup (p.Pro864ThrfsTer7) n.65-72310dup c.2373dup (p.Pro792ThrfsTer7) c.2478dup (p.Pro827ThrfsTer7) c.2094dup (p.Pro699ThrfsTer7) | ClinVar dbSNP |
1 | g.97193103T>A | CA341373335 | DPYD,DPYD-AS1 | c.2588A>T (p.Lys863Ile) n.65-72311T>A c.2372A>T (p.Lys791Ile) c.2477A>T (p.Lys826Ile) c.2093A>T (p.Lys698Ile) | |
1 | g.97193103T>C | CA341373336 | DPYD,DPYD-AS1 | c.2588A>G (p.Lys863Arg) n.65-72311T>C c.2372A>G (p.Lys791Arg) c.2477A>G (p.Lys826Arg) c.2093A>G (p.Lys698Arg) | |
1 | g.97193103T>G | CA341373337 | DPYD,DPYD-AS1 | c.2588A>C (p.Lys863Thr) n.65-72311T>G c.2372A>C (p.Lys791Thr) c.2477A>C (p.Lys826Thr) c.2093A>C (p.Lys698Thr) | gnomAD v4 |
1 | g.97193104T>A | CA341373338 | DPYD,DPYD-AS1 | c.2587A>T (p.Lys863Ter) n.65-72310T>A c.2371A>T (p.Lys791Ter) c.2476A>T (p.Lys826Ter) c.2092A>T (p.Lys698Ter) | |
1 | g.97193104T>C | CA341373339 | DPYD,DPYD-AS1 | c.2587A>G (p.Lys863Glu) n.65-72310T>C c.2371A>G (p.Lys791Glu) c.2476A>G (p.Lys826Glu) c.2092A>G (p.Lys698Glu) | |
1 | g.97193104T>G | CA341373340 | DPYD,DPYD-AS1 | c.2587A>C (p.Lys863Gln) n.65-72310T>G c.2371A>C (p.Lys791Gln) c.2476A>C (p.Lys826Gln) c.2092A>C (p.Lys698Gln) | |
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=) | ClinVar 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) |