Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SQLE

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000265896
Start	125007463:125007463(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.798G>T
AA Mutation	p.Lys266Asn(p.K266N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000265896
Start	125021782:125021782(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1562G>A
AA Mutation	p.Gly521Glu(p.G521E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000265896
Start	124999582:124999582(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.179G>A
AA Mutation	p.Gly60Asp(p.G60D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000265896
Start	125003343:125003343(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.459G>C
AA Mutation	p.Glu153Asp(p.E153D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265896
Start	125011619:125011619(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1191A>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265896
Start	125009033:125009033(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.885G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265896
Start	125020836:125020836(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1497C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265896
Start	124999651:124999651(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.254delC
AA Mutation	p.Pro85LeufsTer25(p.P85Lfs*25)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265896
Start	125018642:125018643(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1363dupT
AA Mutation	p.Tyr455LeufsTer21(p.Y455Lfs*21)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> SQLE

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000265896
Start	125007443:125007443(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.778G>A
AA Mutation	p.Val260Met(p.V260M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000265896
Start	125007401:125007401(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.736A>G
AA Mutation	p.Ile246Val(p.I246V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000265896
Start	125003269:125003269(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.385G>C
AA Mutation	p.Val129Leu(p.V129L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265896
Start	125009234:125009234(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.999C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000265896
Start	125009171:125009171(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.937-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript