Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MUTYH

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000372098
Start	45332285:45332285(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.805C>A
AA Mutation	p.Pro269Thr(p.P269T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000372098
Start	45332422:45332422(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.748C>T
AA Mutation	p.Pro250Ser(p.P250S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000372098
Start	45333108:45333108(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587782165
CDS Mutation	c.442G>A
AA Mutation	p.Gly148Arg(p.G148R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000372098
Start	45333543:45333543(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.209A>G
AA Mutation	p.Glu70Gly(p.E70G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372098
Start	45332036:45332036(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587780752
CDS Mutation	c.975C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372098
Start	45329420:45329420(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1527G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372098
Start	45332447:45332447(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776769508
CDS Mutation	c.723C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000372098
Start	45333596:45333596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.158-2A>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> MUTYH

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000372098
Start	45332049:45332049(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs558173961
CDS Mutation	c.962C>T
AA Mutation	p.Ser321Leu(p.S321L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000372098
Start	45332296:45332296(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.794A>G
AA Mutation	p.Gln265Arg(p.Q265R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372098
Start	45332280:45332280(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.810C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372098
Start	45334479:45334479(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.69A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000372098
Start	45333472:45333472(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138775799
CDS Mutation	c.280C>T
AA Mutation	p.Arg94Ter(p.R94*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript