Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> BLMH

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000261714
Start	30249140:30249140(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1245C>A
AA Mutation	p.Phe415Leu(p.F415L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000261714
Start	30272748:30272748(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.953A>T
AA Mutation	p.Asp318Val(p.D318V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000261714
Start	30287940:30287940(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.329G>A
AA Mutation	p.Arg110His(p.R110H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000261714
Start	30274169:30274169(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.674G>A
AA Mutation	p.Gly225Asp(p.G225D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000261714
Start	30286820:30286820(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.546T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000261714
Start	30291454:30291455(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs748478324
CDS Mutation	c.67dupC
AA Mutation	p.Gln23ProfsTer71(p.Q23Pfs*71)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000261714
Start	30289380:30289381(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.313dupT
AA Mutation	p.Trp105LeufsTer5(p.W105Lfs*5)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> BLMH

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000261714
Start	30289433:30289433(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.261G>T
AA Mutation	p.Met87Ile(p.M87I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000261714
Start	30272570:30272570(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs184963100
CDS Mutation	c.1019A>G
AA Mutation	p.Asp340Gly(p.D340G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000261714
Start	30249124:30249124(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1261G>A
AA Mutation	p.Glu421Lys(p.E421K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript