Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> JADE3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000611250
Start	47058184:47058184(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1579G>A
AA Mutation	p.Ala527Thr(p.A527T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000611250
Start	47058196:47058196(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1591T>A
AA Mutation	p.Ser531Thr(p.S531T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000611250
Start	47039012:47039012(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.919C>T
AA Mutation	p.Arg307Trp(p.R307W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000611250
Start	47058711:47058711(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2106C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000611250
Start	47054285:47054285(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1103delA
AA Mutation	p.Asn368ThrfsTer58(p.N368Tfs*58)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> JADE3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000611250
Start	47054345:47054345(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1160A>T
AA Mutation	p.Gln387Leu(p.Q387L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000611250
Start	47058218:47058218(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1613G>T
AA Mutation	p.Arg538Ile(p.R538I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000611250
Start	47054386:47054386(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs782325596
CDS Mutation	c.1201C>T
AA Mutation	p.Arg401Trp(p.R401W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000611250
Start	47058866:47058866(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781883396
CDS Mutation	c.2261G>A
AA Mutation	p.Arg754Gln(p.R754Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000611250
Start	47058663:47058663(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2058G>A
AA Mutation	p.Met686Ile(p.M686I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript