Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SGMS2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000359079
Start	107899592:107899592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.473G>A
AA Mutation	p.Arg158Lys(p.R158K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000359079
Start	107896002:107896002(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.449G>A
AA Mutation	p.Arg150Lys(p.R150K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000359079
Start	107899631:107899631(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.512G>A
AA Mutation	p.Cys171Tyr(p.C171Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000359079
Start	107903263:107903263(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201568395
CDS Mutation	c.604C>T
AA Mutation	p.Arg202Trp(p.R202W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000359079
Start	107899669:107899669(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.550A>C
AA Mutation	p.Met184Leu(p.M184L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000359079
Start	107908648:107908648(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs556597938
CDS Mutation	c.811G>A
AA Mutation	p.Glu271Lys(p.E271K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000359079
Start	107895634:107895634(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753098107
CDS Mutation	c.81C>T
Mutation Classification	Silent
Feature Type	Transcript

Rectum Cancer: Gene >> SGMS2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000359079
Start	107895702:107895702(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746523118
CDS Mutation	c.149G>A
AA Mutation	p.Arg50Gln(p.R50Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000359079
Start	107910544:107910544(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1089A>C
AA Mutation	p.Lys363Asn(p.K363N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000359079
Start	107895616:107895616(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs565028161
CDS Mutation	c.63G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000359079
Start	107910361:107910361(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.906C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000359079
Start	107903383:107903383(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.724G>T
AA Mutation	p.Glu242Ter(p.E242*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000359079
Start	107910448:107910448(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.993C>A
AA Mutation	p.Cys331Ter(p.C331*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript