Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SMAD5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000545279
Start	136163308:136163308(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.692A>T
AA Mutation	p.Asp231Val(p.D231V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000545279
Start	136172511:136172511(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.853G>A
AA Mutation	p.Glu285Lys(p.E285K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000545279
Start	136154088:136154088(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.328T>C
AA Mutation	p.Cys110Arg(p.C110R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000545279
Start	136153984:136153984(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.224G>A
AA Mutation	p.Arg75His(p.R75H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000545279
Start	136161091:136161091(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.639T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000545279
Start	136174596:136174596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371268695
CDS Mutation	c.1218C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000545279
Start	136153901:136153901(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.141T>C
Mutation Classification	Silent
Feature Type	Transcript

Rectum Cancer: Gene >> SMAD5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000545279
Start	136154116:136154116(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.356A>G
AA Mutation	p.Lys119Arg(p.K119R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000545279
Start	136174549:136174549(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1171C>A
AA Mutation	p.Leu391Ile(p.L391I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000545279
Start	136153837:136153837(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.77A>G
AA Mutation	p.Glu26Gly(p.E26G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript