Colon Cancer: Gene >> BBS4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000268057
Start	72731442:72731442(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.849G>T
AA Mutation	p.Lys283Asn(p.K283N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000268057
Start	72722822:72722822(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764423333
CDS Mutation	c.434A>G
AA Mutation	p.Tyr145Cys(p.Y145C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000268057
Start	72686240:72686240(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13A>G
AA Mutation	p.Arg5Gly(p.R5G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000268057
Start	72709761:72709761(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.138A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000268057
Start	72737544:72737545(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1517_1518delAA
AA Mutation	p.Glu506ValfsTer5(p.E506Vfs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000268057
Start	72735968:72735968(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1248+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000268057
Start	72735183:72735183(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1106+1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> BBS4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000268057
Start	72729620:72729620(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.647G>A
AA Mutation	p.Gly216Asp(p.G216D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript