Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RBPJ

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000342295
Start	26320787:26320787(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750670227
CDS Mutation	c.31G>A
AA Mutation	p.Glu11Lys(p.E11K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000342295
Start	26406225:26406225(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.149T>G
AA Mutation	p.Ile50Ser(p.I50S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000342295
Start	26424657:26424666(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.700_709delGAATTCACAG
AA Mutation	p.Glu234SerfsTer26(p.E234Sfs*26)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000342295
Start	26420713:26420713(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.527delA
AA Mutation	p.Asn176MetfsTer30(p.N176Mfs*30)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000342295
Start	26424630:26424630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.674-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> RBPJ

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000342295
Start	26429935:26429935(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.965T>C
AA Mutation	p.Ile322Thr(p.I322T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000342295
Start	26420645:26420645(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.455A>G
AA Mutation	p.Asp152Gly(p.D152G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000342295
Start	26424703:26424703(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.746A>C
AA Mutation	p.Lys249Thr(p.K249T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000342295
Start	26428723:26428723(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.790A>C
AA Mutation	p.Ile264Leu(p.I264L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000342295
Start	26430889:26430889(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs1064403
CDS Mutation	c.1385G>A
AA Mutation	p.Arg462Gln(p.R462Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000342295
Start	26424481:26424481(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.673+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript