Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> AKAP7

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000431975
Start	131219805:131219805(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.847A>G
AA Mutation	p.Ile283Val(p.I283V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000431975
Start	131145321:131145321(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.56G>T
AA Mutation	p.Arg19Ile(p.R19I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000431975
Start	131281600:131281600(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780216925
CDS Mutation	c.921G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000431975
Start	131160136:131160136(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs764761178
CDS Mutation	c.236delA
AA Mutation	p.Lys79ArgfsTer21(p.K79Rfs*21)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000431975
Start	131219667:131219667(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.715delA
AA Mutation	p.Ile239Ter(p.I239*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000431975
Start	131169153:131169153(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.469G>T
AA Mutation	p.Glu157Ter(p.E157*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000431975
Start	131160135:131160136(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs763109484
CDS Mutation	c.236dupA
AA Mutation	p.Arg80GlufsTer24(p.R80Efs*24)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000431975
Start	131219666:131219667(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.715dupA
AA Mutation	p.Ile239AsnfsTer4(p.I239Nfs*4)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> AKAP7

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000431975
Start	131219734:131219734(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140783900
CDS Mutation	c.776G>A
AA Mutation	p.Arg259His(p.R259H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000431975
Start	131199512:131199512(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.641G>T
AA Mutation	p.Arg214Ile(p.R214I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000431975
Start	131145328:131145328(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.63G>T
AA Mutation	p.Lys21Asn(p.K21N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000431975
Start	131160099:131160099(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.192A>C
AA Mutation	p.Glu64Asp(p.E64D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000431975
Start	131145321:131145322(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.62dupA
AA Mutation	p.Lys22GlufsTer7(p.K22Efs*7)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript