Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MYSM1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000472487
Start	58690350:58690350(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.286T>A
AA Mutation	p.Tyr96Asn(p.Y96N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000472487
Start	58660042:58660042(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2442G>T
AA Mutation	p.Glu814Asp(p.E814D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000472487
Start	58669012:58669012(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1688C>A
AA Mutation	p.Pro563His(p.P563H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000472487
Start	58690353:58690353(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.283A>C
AA Mutation	p.Lys95Gln(p.K95Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000472487
Start	58673580:58673580(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766852339
CDS Mutation	c.1565C>T
AA Mutation	p.Thr522Met(p.T522M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000472487
Start	58682087:58682087(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.957G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000472487
Start	58673636:58673636(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775342119
CDS Mutation	c.1509T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000472487
Start	58682123:58682123(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.921delA
AA Mutation	p.Lys307AsnfsTer5(p.K307Nfs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained
Transcription ID	ENST00000472487
Start	58673629:58673629(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780757165
CDS Mutation	c.1516C>T
AA Mutation	p.Arg506Ter(p.R506*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> MYSM1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000472487
Start	58665573:58665573(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770747091
CDS Mutation	c.2090G>A
AA Mutation	p.Arg697Gln(p.R697Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000472487
Start	58681987:58681987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1057A>C
AA Mutation	p.Asn353His(p.N353H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000472487
Start	58700016:58700016(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.37G>A
AA Mutation	p.Asp13Asn(p.D13N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000472487
Start	58676938:58676938(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1378A>C
AA Mutation	p.Asn460His(p.N460H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000472487
Start	58682201:58682201(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.843A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000472487
Start	58668999:58668999(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1701delT
AA Mutation	p.Phe567LeufsTer11(p.F567Lfs*11)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript