Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PDIA3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000300289
Start 43765560:43765560(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.713A>G
AA Mutation p.Glu238Gly(p.E238G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000300289
Start 43771166:43771166(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1466T>C
AA Mutation p.Val489Ala(p.V489A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000300289
Start 43763187:43763187(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.583G>A
AA Mutation p.Glu195Lys(p.E195K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000300289
Start 43746699:43746699(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.160G>A
AA Mutation p.Ala54Thr(p.A54T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000300289
Start 43766906:43766906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1024T>C
AA Mutation p.Phe342Leu(p.F342L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000300289
Start 43765923:43765923(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.756A>C
AA Mutation p.Lys252Asn(p.K252N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000300289
Start 43768490:43768490(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757380536
CDS Mutation c.1030C>T
AA Mutation p.Arg344Cys(p.R344C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000300289
Start 43771204:43771204(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1504delC
AA Mutation p.Gln502ArgfsTer46(p.Q502Rfs*46)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000300289
Start 43756751:43756751(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.349G>T
AA Mutation p.Gly117Ter(p.G117*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence frameshift_variant
Transcription ID ENST00000300289
Start 43746699:43746700(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.165dupC
AA Mutation p.Trp56LeufsTer11(p.W56Lfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000300289
Start 43765520:43765521(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.679dupA
AA Mutation p.Met227AsnfsTer7(p.M227Nfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> PDIA3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000300289
Start 43768536:43768536(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1076G>C
AA Mutation p.Gly359Ala(p.G359A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000300289
Start 43756718:43756718(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779107688
CDS Mutation c.316T>C
AA Mutation p.Phe106Leu(p.F106L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000300289
Start 43766908:43766908(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1026C>A
AA Mutation p.Phe342Leu(p.F342L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence splice_donor_variant
Transcription ID ENST00000300289
Start 43766911:43766912(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1028+2dupT
Mutation Classification Splice_Site
Feature Type Transcript