Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SERPINA1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000355814
Start	94381048:94381048(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs544632177
CDS Mutation	c.740G>A
AA Mutation	p.Arg247His(p.R247H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000355814
Start	94382780:94382780(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.458A>C
AA Mutation	p.Lys153Thr(p.K153T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000355814
Start	94382823:94382823(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs11558261
CDS Mutation	c.415G>A
AA Mutation	p.Gly139Ser(p.G139S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355814
Start	94382911:94382911(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764493280
CDS Mutation	c.327G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355814
Start	94382995:94382995(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.243C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000355814
Start	94378576:94378576(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs763023697
CDS Mutation	c.1130delT
AA Mutation	p.Leu377Ter(p.L377*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000355814
Start	94378605:94378606(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1100_1101insGGGG
AA Mutation	p.Thr369ArgfsTer3(p.T369Rfs*3)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> SERPINA1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000355814
Start	94383013:94383013(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.225C>A
AA Mutation	p.Phe75Leu(p.F75L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000355814
Start	94382946:94382946(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.292G>A
AA Mutation	p.Asp98Asn(p.D98N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000355814
Start	94382612:94382612(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.626T>C
AA Mutation	p.Val209Ala(p.V209A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript