Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> DAZL

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000399444
Start	16594534:16594534(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766124489
CDS Mutation	c.620C>T
AA Mutation	p.Pro207Leu(p.P207L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000399444
Start	16597499:16597499(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.285G>T
AA Mutation	p.Lys95Asn(p.K95N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000399444
Start	16596798:16596798(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.450T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000399444
Start	16597520:16597520(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.264delT
AA Mutation	p.Phe88LeufsTer9(p.F88Lfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000399444
Start	16597526:16597527(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.257_258insTAAGTTTGG
AA Mutation	p.Ser86_Phe87insLysPheGly(p.S86_F87insKFG)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> DAZL

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000399444
Start	16598558:16598558(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.44G>A
AA Mutation	p.Arg15Lys(p.R15K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000399444
Start	16596993:16596993(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.353delA
AA Mutation	p.Asn118IlefsTer41(p.N118Ifs*41)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000399444
Start	16598556:16598556(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.46G>T
AA Mutation	p.Glu16Ter(p.E16*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript