Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97193055_97193072delCA2646703687DPYD,DPYD-AS1c.2620_2622+15del
n.65-72359_65-72342del
c.2404_2406+15del
c.2509_2511+15del
c.2125_2127+15del
 gnomAD v4
1g.97193068C>ACA341373266DPYD,DPYD-AS1c.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)
1g.97193068C=CA1182758233DPYD,DPYD-AS1c.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=)
1g.97193068C>GCA341373267DPYD,DPYD-AS1c.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)
1g.97193068C>TCA16040791DPYD,DPYD-AS1c.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
1g.97193069C>ACA341373268DPYD,DPYD-AS1c.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
1g.97193069C>GCA341373269DPYD,DPYD-AS1c.2622G>C (p.Lys874Asn)
n.65-72345C>G
c.2406G>C (p.Lys802Asn)
c.2511G>C (p.Lys837Asn)
c.2127G>C (p.Lys709Asn)
1g.97193069C>TCA419137060DPYD,DPYD-AS1c.2622G>A (p.Lys874=)
n.65-72345C>T
c.2406G>A (p.Lys802=)
c.2511G>A (p.Lys837=)
c.2127G>A (p.Lys709=)
1g.97193070T>ACA341373270DPYD,DPYD-AS1c.2621A>T (p.Lys874Met)
n.65-72344T>A
c.2405A>T (p.Lys802Met)
c.2510A>T (p.Lys837Met)
c.2126A>T (p.Lys709Met)
1g.97193070T>CCA341373271DPYD,DPYD-AS1c.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
1g.97193070T>GCA341373272DPYD,DPYD-AS1c.2621A>C (p.Lys874Thr)
n.65-72344T>G
c.2405A>C (p.Lys802Thr)
c.2510A>C (p.Lys837Thr)
c.2126A>C (p.Lys709Thr)
1g.97193070T=CA1182758234DPYD,DPYD-AS1c.2621A= (p.Lys874=)
n.65-72344T=
c.2405A= (p.Lys802=)
c.2510A= (p.Lys837=)
c.2126A= (p.Lys709=)
1g.97193071T>ACA341373273DPYD,DPYD-AS1c.2620A>T (p.Lys874Ter)
n.65-72343T>A
c.2404A>T (p.Lys802Ter)
c.2509A>T (p.Lys837Ter)
c.2125A>T (p.Lys709Ter)
1g.97193071T>CCA962992DPYD,DPYD-AS1c.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
1g.97193071T>GCA341373274DPYD,DPYD-AS1c.2620A>C (p.Lys874Gln)
n.65-72343T>G
c.2404A>C (p.Lys802Gln)
c.2509A>C (p.Lys837Gln)
c.2125A>C (p.Lys709Gln)
1g.97193071T=CA1143602305DPYD,DPYD-AS1c.2620A= (p.Lys874=)
n.65-72343T=
c.2404A= (p.Lys802=)
c.2509A= (p.Lys837=)
c.2125A= (p.Lys709=)
1g.97193072G>ACA419137061DPYD,DPYD-AS1c.2619C>T (p.Asp873=)
n.65-72342G>A
c.2403C>T (p.Asp801=)
c.2508C>T (p.Asp836=)
c.2124C>T (p.Asp708=)
1g.97193072G>CCA962993DPYD,DPYD-AS1c.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
1g.97193072G=CA1182758235DPYD,DPYD-AS1c.2619C= (p.Asp873=)
n.65-72342G=
c.2403C= (p.Asp801=)
c.2508C= (p.Asp836=)
c.2124C= (p.Asp708=)
1g.97193072G>TCA341373275DPYD,DPYD-AS1c.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
1g.97193073T>ACA341373276DPYD,DPYD-AS1c.2618A>T (p.Asp873Val)
n.65-72341T>A
c.2402A>T (p.Asp801Val)
c.2507A>T (p.Asp836Val)
c.2123A>T (p.Asp708Val)
1g.97193073T>CCA341373277DPYD,DPYD-AS1c.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
1g.97193073T>GCA341373278DPYD,DPYD-AS1c.2618A>C (p.Asp873Ala)
n.65-72341T>G
c.2402A>C (p.Asp801Ala)
c.2507A>C (p.Asp836Ala)
c.2123A>C (p.Asp708Ala)
1g.97193073T=CA1182758236DPYD,DPYD-AS1c.2618A= (p.Asp873=)
n.65-72341T=
c.2402A= (p.Asp801=)
c.2507A= (p.Asp836=)
c.2123A= (p.Asp708=)
1g.97193074C>ACA341373279DPYD,DPYD-AS1c.2617G>T (p.Asp873Tyr)
n.65-72340C>A
c.2401G>T (p.Asp801Tyr)
c.2506G>T (p.Asp836Tyr)
c.2122G>T (p.Asp708Tyr)
1g.97193074C>GCA341373280DPYD,DPYD-AS1c.2617G>C (p.Asp873His)
n.65-72340C>G
c.2401G>C (p.Asp801His)
c.2506G>C (p.Asp836His)
c.2122G>C (p.Asp708His)
1g.97193074C>TCA341373281DPYD,DPYD-AS1c.2617G>A (p.Asp873Asn)
n.65-72340C>T
c.2401G>A (p.Asp801Asn)
c.2506G>A (p.Asp836Asn)
c.2122G>A (p.Asp708Asn)
 COSMIC
1g.97193075C>ACA341373282DPYD,DPYD-AS1c.2616G>T (p.Met872Ile)
n.65-72339C>A
c.2400G>T (p.Met800Ile)
c.2505G>T (p.Met835Ile)
c.2121G>T (p.Met707Ile)
1g.97193075C>GCA341373283DPYD,DPYD-AS1c.2616G>C (p.Met872Ile)
n.65-72339C>G
c.2400G>C (p.Met800Ile)
c.2505G>C (p.Met835Ile)
c.2121G>C (p.Met707Ile)
1g.97193075C>TCA341373284DPYD,DPYD-AS1c.2616G>A (p.Met872Ile)
n.65-72339C>T
c.2400G>A (p.Met800Ile)
c.2505G>A (p.Met835Ile)
c.2121G>A (p.Met707Ile)
1g.97193076A=CA1182758238DPYD,DPYD-AS1c.2615T= (p.Met872=)
n.65-72338A=
c.2399T= (p.Met800=)
c.2504T= (p.Met835=)
c.2120T= (p.Met707=)
1g.97193076A>CCA341373285DPYD,DPYD-AS1c.2615T>G (p.Met872Arg)
n.65-72338A>C
c.2399T>G (p.Met800Arg)
c.2504T>G (p.Met835Arg)
c.2120T>G (p.Met707Arg)
1g.97193076A>GCA341373286DPYD,DPYD-AS1c.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
1g.97193076A>TCA341373287DPYD,DPYD-AS1c.2615T>A (p.Met872Lys)
n.65-72338A>T
c.2399T>A (p.Met800Lys)
c.2504T>A (p.Met835Lys)
c.2120T>A (p.Met707Lys)
1g.97193076_97193092delinsATGAGTTCAGCTATACGCA1182758237DPYD,DPYD-AS1c.2599_2615delinsCGTATAGCTGAACTCAT (p.Arg867=)
n.65-72338_65-72322delinsATGAGTTCAGCTATACG
c.2383_2399delinsCGTATAGCTGAACTCAT (p.Arg795=)
c.2488_2504delinsCGTATAGCTGAACTCAT (p.Arg830=)
c.2104_2120delinsCGTATAGCTGAACTCAT (p.Arg702=)
1g.97193077T>ACA341373290DPYD,DPYD-AS1c.2614A>T (p.Met872Leu)
n.65-72337T>A
c.2398A>T (p.Met800Leu)
c.2503A>T (p.Met835Leu)
c.2119A>T (p.Met707Leu)
1g.97193077T>CCA341373289DPYD,DPYD-AS1c.2614A>G (p.Met872Val)
n.65-72337T>C
c.2398A>G (p.Met800Val)
c.2503A>G (p.Met835Val)
c.2119A>G (p.Met707Val)
1g.97193077T>GCA341373288DPYD,DPYD-AS1c.2614A>C (p.Met872Leu)
n.65-72337T>G
c.2398A>C (p.Met800Leu)
c.2503A>C (p.Met835Leu)
c.2119A>C (p.Met707Leu)
1g.97193079_97193094delCA525177561DPYD,DPYD-AS1c.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
1g.97193078G>ACA419137063DPYD,DPYD-AS1c.2613C>T (p.Leu871=)
n.65-72336G>A
c.2397C>T (p.Leu799=)
c.2502C>T (p.Leu834=)
c.2118C>T (p.Leu706=)
 dbSNP
1g.97193078G>CCA419137065DPYD,DPYD-AS1c.2613C>G (p.Leu871=)
n.65-72336G>C
c.2397C>G (p.Leu799=)
c.2502C>G (p.Leu834=)
c.2118C>G (p.Leu706=)
1g.97193078G=CA1182758239DPYD,DPYD-AS1c.2613C= (p.Leu871=)
n.65-72336G=
c.2397C= (p.Leu799=)
c.2502C= (p.Leu834=)
c.2118C= (p.Leu706=)
1g.97193078G>TCA419137066DPYD,DPYD-AS1c.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
1g.97193079A>CCA341373291DPYD,DPYD-AS1c.2612T>G (p.Leu871Arg)
n.65-72335A>C
c.2396T>G (p.Leu799Arg)
c.2501T>G (p.Leu834Arg)
c.2117T>G (p.Leu706Arg)
1g.97193079A>GCA341373292DPYD,DPYD-AS1c.2612T>C (p.Leu871Pro)
n.65-72335A>G
c.2396T>C (p.Leu799Pro)
c.2501T>C (p.Leu834Pro)
c.2117T>C (p.Leu706Pro)
1g.97193079A>TCA341373293DPYD,DPYD-AS1c.2612T>A (p.Leu871His)
n.65-72335A>T
c.2396T>A (p.Leu799His)
c.2501T>A (p.Leu834His)
c.2117T>A (p.Leu706His)
1g.97193080G>ACA341373294DPYD,DPYD-AS1c.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
1g.97193080G>CCA341373295DPYD,DPYD-AS1c.2611C>G (p.Leu871Val)
n.65-72334G>C
c.2395C>G (p.Leu799Val)
c.2500C>G (p.Leu834Val)
c.2116C>G (p.Leu706Val)
1g.97193080G=CA1182758240DPYD,DPYD-AS1c.2611C= (p.Leu871=)
n.65-72334G=
c.2395C= (p.Leu799=)
c.2500C= (p.Leu834=)
c.2116C= (p.Leu706=)
1g.97193080G>TCA341373296DPYD,DPYD-AS1c.2611C>A (p.Leu871Ile)
n.65-72334G>T
c.2395C>A (p.Leu799Ile)
c.2500C>A (p.Leu834Ile)
c.2116C>A (p.Leu706Ile)

Number of alleles fetched