Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ASPN

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000375544
Start	92474837:92474837(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.61C>A
AA Mutation	p.Pro21Thr(p.P21T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000375544
Start	92457454:92457454(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.977G>T
AA Mutation	p.Arg326Ile(p.R326I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000375544
Start	92460567:92460567(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.713G>A
AA Mutation	p.Gly238Asp(p.G238D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000375544
Start	92474648:92474648(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.250C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000375544
Start	92474709:92474709(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.189A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000375544
Start	92466479:92466479(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.480T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000375544
Start	92457331:92457332(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1099_1100delGT
AA Mutation	p.Val367PhefsTer20(p.V367Ffs*20)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	stop_gained
Transcription ID	ENST00000375544
Start	92460493:92460493(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201600758
CDS Mutation	c.787C>T
AA Mutation	p.Arg263Ter(p.R263*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> ASPN

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000375544
Start	92466377:92466377(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.582G>T
AA Mutation	p.Met194Ile(p.M194I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000375544
Start	92460494:92460494(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.786A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000375544
Start	92459634:92459634(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.943C>T
AA Mutation	p.Gln315Ter(p.Q315*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript