Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> KBTBD4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000395288
Start	47577956:47577956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.44A>C
AA Mutation	p.Tyr15Ser(p.Y15S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000395288
Start	47573024:47573024(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1463C>T
AA Mutation	p.Ala488Val(p.A488V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000395288
Start	47573585:47573585(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.902G>A
AA Mutation	p.Cys301Tyr(p.C301Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000395288
Start	47573273:47573273(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1214C>G
AA Mutation	p.Thr405Arg(p.T405R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000395288
Start	47577473:47577473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.527A>C
AA Mutation	p.Gln176Pro(p.Q176P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000395288
Start	47573222:47573222(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs558994168
CDS Mutation	c.1265G>A
AA Mutation	p.Arg422His(p.R422H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000395288
Start	47573049:47573049(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746726124
CDS Mutation	c.1438C>T
AA Mutation	p.Arg480Trp(p.R480W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000395288
Start	47577961:47577961(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.39G>T
AA Mutation	p.Glu13Asp(p.E13D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000395288
Start	47573356:47573356(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1131C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000395288
Start	47573268:47573269(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1218_1219delGA
AA Mutation	p.Glu406AspfsTer23(p.E406Dfs*23)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000395288
Start	47577587:47577587(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.413delT
AA Mutation	p.Leu138TrpfsTer13(p.L138Wfs*13)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> KBTBD4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000395288
Start	47573474:47573474(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1013A>C
AA Mutation	p.Lys338Thr(p.K338T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000395288
Start	47577956:47577956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.44A>C
AA Mutation	p.Tyr15Ser(p.Y15S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000395288
Start	47573697:47573697(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778273465
CDS Mutation	c.790T>C
AA Mutation	p.Ser264Pro(p.S264P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000395288
Start	47575644:47575644(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.645T>G
AA Mutation	p.Phe215Leu(p.F215L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript