Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PMEL

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000548493
Start	55954275:55954275(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1925G>A
AA Mutation	p.Arg642His(p.R642H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000548493
Start	55957122:55957122(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1181C>T
AA Mutation	p.Thr394Ile(p.T394I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000548493
Start	55955494:55955494(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1732G>A
AA Mutation	p.Ala578Thr(p.A578T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000548493
Start	55961708:55961708(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.101G>T
AA Mutation	p.Gly34Val(p.G34V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000548493
Start	55957520:55957520(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.783C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000548493
Start	55957643:55957643(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.660C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000548493
Start	55958005:55958006(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.547_548dupAC
AA Mutation	p.Met184ProfsTer4(p.M184Pfs*4)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PMEL

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000548493
Start	55961442:55961442(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.209T>C
AA Mutation	p.Val70Ala(p.V70A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000548493
Start	55957144:55957144(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1159A>G
AA Mutation	p.Thr387Ala(p.T387A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000548493
Start	55955823:55955823(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377175522
CDS Mutation	c.1512C>T
Mutation Classification	Silent
Feature Type	Transcript