Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> HSPA5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000324460
Start	125236845:125236845(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1712C>A
AA Mutation	p.Ser571Tyr(p.S571Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324460
Start	125239007:125239007(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.930G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000324460
Start	125236992:125236992(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1565delA
AA Mutation	p.Asn522IlefsTer12(p.N522Ifs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000324460
Start	125239288:125239288(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.649delG
AA Mutation	p.Glu217ArgfsTer76(p.E217Rfs*76)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> HSPA5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000324460
Start	125238988:125238988(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.949G>T
AA Mutation	p.Asp317Tyr(p.D317Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000324460
Start	125239108:125239108(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.829G>T
AA Mutation	p.Asp277Tyr(p.D277Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324460
Start	125236703:125236703(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759041468
CDS Mutation	c.1854T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000324460
Start	125236948:125236948(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1609G>T
AA Mutation	p.Glu537Ter(p.E537*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript