Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MC1R

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000555147
Start	89919427:89919427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201632257
CDS Mutation	c.169G>A
AA Mutation	p.Ala57Thr(p.A57T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000555147
Start	89919851:89919851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.593C>T
AA Mutation	p.Ala198Val(p.A198V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000555147
Start	89919835:89919835(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.577G>T
AA Mutation	p.Val193Leu(p.V193L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000555147
Start	89919813:89919813(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199920775
CDS Mutation	c.555C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000555147
Start	89919798:89919798(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371055548
CDS Mutation	c.540C>T
Mutation Classification	Silent
Feature Type	Transcript

Rectum Cancer: Gene >> MC1R

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000555147
Start	89919453:89919453(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.195G>T
AA Mutation	p.Lys65Asn(p.K65N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000555147
Start	89920091:89920091(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.833A>G
AA Mutation	p.Lys278Arg(p.K278R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000555147
Start	89920046:89920046(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.788T>A
AA Mutation	p.Leu263His(p.L263H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000555147
Start	89920195:89920195(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.937C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000555147
Start	89920047:89920047(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.789C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000555147
Start	89919936:89919936(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.678G>A
Mutation Classification	Silent
Feature Type	Transcript