Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RUNX2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000371438
Start	45547117:45547117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1378C>T
AA Mutation	p.Pro460Ser(p.P460S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000371438
Start	45547271:45547271(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1532G>A
AA Mutation	p.Gly511Asp(p.G511D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000371438
Start	45422924:45422924(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.390G>T
AA Mutation	p.Trp130Cys(p.W130C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000371438
Start	45431920:45431920(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.481G>A
AA Mutation	p.Asp161Asn(p.D161N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000371438
Start	45437973:45437973(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147009083
CDS Mutation	c.607G>A
AA Mutation	p.Val203Ile(p.V203I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371438
Start	45512361:45512361(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.975G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371438
Start	45546942:45546942(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1203C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371438
Start	45422618:45422618(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.90delC
AA Mutation	p.Ser31ProfsTer9(p.S31Pfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371438
Start	45547119:45547119(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1385delG
AA Mutation	p.Gly462GlufsTer22(p.G462Efs*22)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> RUNX2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000371438
Start	45431989:45431989(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.550G>A
AA Mutation	p.Asp184Asn(p.D184N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	stop_lost
Transcription ID	ENST00000371438
Start	45547304:45547304(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1565G>T
AA Mutation	p.Ter522LeuextTer23(p.522Lext23)
Mutation Classification	Nonstop_Mutation
Feature Type	Transcript