Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> LIMA1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50177096:50177096(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766724186
CDS Mutation	c.2248C>T
AA Mutation	p.Arg750Trp(p.R750W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50178040:50178040(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1304G>T
AA Mutation	p.Arg435Ile(p.R435I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50231700:50231700(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.130G>A
AA Mutation	p.Ala44Thr(p.A44T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50177513:50177513(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1831C>T
AA Mutation	p.Pro611Ser(p.P611S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50177737:50177737(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1607C>T
AA Mutation	p.Thr536Ile(p.T536I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50177578:50177578(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1766G>A
AA Mutation	p.Arg589His(p.R589H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50192514:50192514(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1078C>T
AA Mutation	p.Pro360Ser(p.P360S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50222209:50222209(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.442G>A
AA Mutation	p.Gly148Ser(p.G148S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50222110:50222110(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.541A>G
AA Mutation	p.Thr181Ala(p.T181A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341247
Start	50177397:50177397(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1947A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000341247
Start	50177739:50177739(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1605delC
AA Mutation	p.Thr536LeufsTer38(p.T536Lfs*38)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	stop_gained
Transcription ID	ENST00000341247
Start	50248688:50248688(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.64G>T
AA Mutation	p.Glu22Ter(p.E22*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	stop_gained
Transcription ID	ENST00000341247
Start	50177192:50177192(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776901156
CDS Mutation	c.2152G>T
AA Mutation	p.Glu718Ter(p.E718*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> LIMA1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50177096:50177096(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766724186
CDS Mutation	c.2248C>T
AA Mutation	p.Arg750Trp(p.R750W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50222112:50222112(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.539A>G
AA Mutation	p.Asn180Ser(p.N180S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50222420:50222420(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.231G>T
AA Mutation	p.Glu77Asp(p.E77D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000341247
Start	50177465:50177465(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1879G>C
AA Mutation	p.Gly627Arg(p.G627R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000341247
Start	50177375:50177375(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1969G>T
AA Mutation	p.Glu657Ter(p.E657*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript