Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PDK1

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000282077
Start	172562221:172562221(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.340T>C
AA Mutation	p.Tyr114His(p.Y114H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000282077
Start	172595965:172595965(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1307C>T
AA Mutation	p.Ala436Val(p.A436V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000282077
Start	172592962:172592962(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1084T>C
AA Mutation	p.Ser362Pro(p.S362P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000282077
Start	172595875:172595875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1217C>A
AA Mutation	p.Ala406Asp(p.A406D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000282077
Start	172595943:172595943(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1285G>T
AA Mutation	p.Asp429Tyr(p.D429Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000282077
Start	172586331:172586332(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.999_1000insACATACTCA
AA Mutation	p.Asn333_Tyr334insThrTyrSer(p.N333_Y334insTYS)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PDK1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000282077
Start	172565034:172565034(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.652A>C
AA Mutation	p.Ser218Arg(p.S218R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000282077
Start	172564535:172564535(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.443G>A
AA Mutation	p.Arg148Gln(p.R148Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000282077
Start	172595850:172595850(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1192G>T
AA Mutation	p.Glu398Ter(p.E398*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript