Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> GTPBP1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000216044
Start	38730619:38730619(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1925C>T
AA Mutation	p.Pro642Leu(p.P642L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000216044
Start	38728110:38728110(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1665G>C
AA Mutation	p.Gln555His(p.Q555H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000216044
Start	38721850:38721850(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.943G>A
AA Mutation	p.Ala315Thr(p.A315T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000216044
Start	38726083:38726083(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1156delC
AA Mutation	p.Arg386AlafsTer32(p.R386Afs*32)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000216044
Start	38729591:38729591(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1850delC
AA Mutation	p.Pro617HisfsTer9(p.P617Hfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> GTPBP1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000216044
Start	38728072:38728072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755303735
CDS Mutation	c.1627C>T
AA Mutation	p.Arg543Cys(p.R543C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000216044
Start	38708912:38708912(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.260A>C
AA Mutation	p.Asp87Ala(p.D87A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000216044
Start	38729527:38729527(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143672429
CDS Mutation	c.1782G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000216044
Start	38726431:38726431(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139428230
CDS Mutation	c.1392G>A
Mutation Classification	Silent
Feature Type	Transcript