Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PNN

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000216832
Start	39181578:39181578(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1869T>G
AA Mutation	p.Ser623Arg(p.S623R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000216832
Start	39180633:39180633(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.924A>C
AA Mutation	p.Glu308Asp(p.E308D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000216832
Start	39180708:39180708(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.999A>C
AA Mutation	p.Glu333Asp(p.E333D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000216832
Start	39180887:39180887(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773619165
CDS Mutation	c.1178T>C
AA Mutation	p.Val393Ala(p.V393A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000216832
Start	39176528:39176528(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.187C>T
AA Mutation	p.Arg63Cys(p.R63C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000216832
Start	39176097:39176097(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.133C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000216832
Start	39177649:39177649(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.384T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000216832
Start	39176563:39176566(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.224_227delAACA
AA Mutation	p.Lys75ArgfsTer42(p.K75Rfs*42)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained
Transcription ID	ENST00000216832
Start	39181738:39181738(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2029G>T
AA Mutation	p.Gly677Ter(p.G677*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> PNN

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000216832
Start	39176536:39176536(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.195C>A
AA Mutation	p.Phe65Leu(p.F65L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000216832
Start	39181663:39181663(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1954C>T
AA Mutation	p.Arg652Trp(p.R652W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000216832
Start	39180526:39180526(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754286118
CDS Mutation	c.817G>A
AA Mutation	p.Glu273Lys(p.E273K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000216832
Start	39181694:39181694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1985G>T
AA Mutation	p.Arg662Ile(p.R662I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000216832
Start	39181027:39181027(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1318A>T
AA Mutation	p.Lys440Ter(p.K440*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000216832
Start	39177893:39177893(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.475G>T
AA Mutation	p.Glu159Ter(p.E159*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript