Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PKP3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000331563
Start 397555:397555(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.961C>A
AA Mutation p.Leu321Met(p.L321M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000331563
Start 403108:403108(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1768G>A
AA Mutation p.Ala590Thr(p.A590T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000331563
Start 397066:397066(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs554635370
CDS Mutation c.565G>A
AA Mutation p.Gly189Arg(p.G189R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000331563
Start 397604:397604(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1010T>C
AA Mutation p.Val337Ala(p.V337A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000331563
Start 396648:396648(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.273C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000331563
Start 403707:403707(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142922289
CDS Mutation c.2013G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000331563
Start 400077:400077(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs757594408
CDS Mutation c.1390delC
AA Mutation p.Leu464SerfsTer183(p.L464Sfs*183)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 8
Mutation Consequence stop_gained
Transcription ID ENST00000331563
Start 397330:397330(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755412958
CDS Mutation c.829C>T
AA Mutation p.Arg277Ter(p.R277*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000331563
Start 397258:397258(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.757C>T
AA Mutation p.Arg253Ter(p.R253*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence frameshift_variant
Transcription ID ENST00000331563
Start 400076:400077(version: GRCh38)
Mutation Type INS
dbSNP_RS rs781609202
CDS Mutation c.1390dupC
AA Mutation p.Leu464ProfsTer224(p.L464Pfs*224)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> PKP3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000331563
Start 400094:400094(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775543180
CDS Mutation c.1401G>T
AA Mutation p.Gln467His(p.Q467H)
Mutation Classification Missense_Mutation
Feature Type Transcript