Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PKP2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000070846
Start 32878065:32878065(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.815G>T
AA Mutation p.Arg272Met(p.R272M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000070846
Start 32869034:32869034(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1063C>G
AA Mutation p.Arg355Gly(p.R355G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000070846
Start 32841191:32841191(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1525T>G
AA Mutation p.Leu509Val(p.L509V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000070846
Start 32878245:32878245(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.635G>A
AA Mutation p.Arg212His(p.R212H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000070846
Start 32878158:32878158(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.722T>G
AA Mutation p.Leu241Arg(p.L241R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000070846
Start 32802450:32802450(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2252C>T
AA Mutation p.Ser751Leu(p.S751L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000070846
Start 32796148:32796148(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2450G>A
AA Mutation p.Gly817Glu(p.G817E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000070846
Start 32841161:32841161(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751517092
CDS Mutation c.1555A>G
AA Mutation p.Met519Val(p.M519V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000070846
Start 32850846:32850846(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1298T>C
AA Mutation p.Val433Ala(p.V433A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000070846
Start 32868960:32868960(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754927123
CDS Mutation c.1137C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000070846
Start 32878283:32878283(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.597C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000070846
Start 32850776:32850776(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1368delA
AA Mutation p.Lys456AsnfsTer3(p.K456Nfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript

Rectum Cancer: Gene >> PKP2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000070846
Start 32878192:32878192(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs543281875
CDS Mutation c.688G>A
AA Mutation p.Val230Ile(p.V230I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000070846
Start 32824127:32824127(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1724C>T
AA Mutation p.Ala575Val(p.A575V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence stop_gained
Transcription ID ENST00000070846
Start 32878229:32878229(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.651C>A
AA Mutation p.Tyr217Ter(p.Y217*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript