Primary Site >> Stomach Cancer

Gene >> EPAS1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46369856:46369856(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.809A>C
AA Mutation p.Glu270Ala(p.E270A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46378065:46378065(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1421G>C
AA Mutation p.Ser474Thr(p.S474T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46356785:46356785(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.431G>A
AA Mutation p.Arg144His(p.R144H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46380645:46380645(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112301187
CDS Mutation c.1973G>A
AA Mutation p.Arg658His(p.R658H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46378744:46378744(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1531G>A
AA Mutation p.Ala511Thr(p.A511T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46380453:46380453(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1781G>T
AA Mutation p.Ser594Ile(p.S594I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46380407:46380407(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1735C>A
AA Mutation p.Pro579Thr(p.P579T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46380673:46380673(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2001G>T
AA Mutation p.Leu667Phe(p.L667F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46356252:46356252(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776459473
CDS Mutation c.319G>A
AA Mutation p.Asp107Asn(p.D107N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46380320:46380320(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771840848
CDS Mutation c.1648C>T
AA Mutation p.Arg550Trp(p.R550W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46356165:46356165(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.232G>A
AA Mutation p.Glu78Lys(p.E78K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000263734
Start 46380330:46380330(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201311893
CDS Mutation c.1658C>T
AA Mutation p.Ala553Val(p.A553V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000263734
Start 46384588:46384588(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752476478
CDS Mutation c.2541C>T
Mutation Classification Silent
Feature Type Transcript
ID 14
Mutation Consequence frameshift_variant
Transcription ID ENST00000263734
Start 46378049:46378050(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1410dupC
AA Mutation p.Ser471GlnfsTer14(p.S471Qfs*14)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript