Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CASP7

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000345633
Start	113729329:113729329(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.701G>A
AA Mutation	p.Ser234Asn(p.S234N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000345633
Start	113729465:113729465(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.837C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000345633
Start	113721773:113721773(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.375delA
AA Mutation	p.Ala126LeufsTer17(p.A126Lfs*17)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000345633
Start	113721773:113721773(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755104278
CDS Mutation	c.370A>T
AA Mutation	p.Lys124Ter(p.K124*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> CASP7

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000345633
Start	113721663:113721663(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.260G>A
AA Mutation	p.Arg87Gln(p.R87Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000345633
Start	113729311:113729311(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.683G>T
AA Mutation	p.Gly228Val(p.G228V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000345633
Start	113726381:113726381(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370400085
CDS Mutation	c.629G>A
AA Mutation	p.Arg210Gln(p.R210Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000345633
Start	113697553:113697553(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.60T>G
AA Mutation	p.Asp20Glu(p.D20E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript