Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ATG16L1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000392017
Start	233290345:233290345(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1422G>T
AA Mutation	p.Trp474Cys(p.W474C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000392017
Start	233289864:233289864(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1214C>T
AA Mutation	p.Thr405Met(p.T405M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000392017
Start	233264054:233264054(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.378G>T
AA Mutation	p.Met126Ile(p.M126I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000392017
Start	233281152:233281152(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1108A>G
AA Mutation	p.Thr370Ala(p.T370A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000392017
Start	233290337:233290337(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1414C>T
AA Mutation	p.Arg472Cys(p.R472C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000392017
Start	233290352:233290352(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1429C>T
AA Mutation	p.Arg477Ter(p.R477*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000392017
Start	233290333:233290334(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1410_1411insTGCAAAC
AA Mutation	p.Ile471CysfsTer34(p.I471Cfs*34)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> ATG16L1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000392017
Start	233289963:233289963(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1313G>A
AA Mutation	p.Arg438His(p.R438H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000392017
Start	233263175:233263175(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.255G>A
AA Mutation	p.Met85Ile(p.M85I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000392017
Start	233265036:233265036(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.534A>G
Mutation Classification	Silent
Feature Type	Transcript