Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PTPN12

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77583609:77583609(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.340G>T
AA Mutation	p.Val114Leu(p.V114L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77626854:77626854(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1175T>C
AA Mutation	p.Val392Ala(p.V392A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77632407:77632407(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2056G>T
AA Mutation	p.Val686Leu(p.V686L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77632390:77632390(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2039G>A
AA Mutation	p.Arg680Lys(p.R680K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000248594
Start	77635847:77635847(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2140G>A
AA Mutation	p.Glu714Lys(p.E714K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77600670:77600670(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.559C>T
AA Mutation	p.Arg187Cys(p.R187C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77581439:77581439(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.221G>A
AA Mutation	p.Arg74Gln(p.R74Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77583561:77583561(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.292T>C
AA Mutation	p.Tyr98His(p.Y98H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77626962:77626962(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1283A>C
AA Mutation	p.Lys428Thr(p.K428T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77635827:77635827(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2120G>T
AA Mutation	p.Arg707Leu(p.R707L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77639231:77639231(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2294G>A
AA Mutation	p.Arg765Gln(p.R765Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000248594
Start	77635836:77635836(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2135delA
AA Mutation	p.Lys712SerfsTer5(p.K712Sfs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	stop_gained
Transcription ID	ENST00000248594
Start	77585561:77585561(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.400C>T
AA Mutation	p.Arg134Ter(p.R134*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	stop_gained
Transcription ID	ENST00000248594
Start	77635826:77635826(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2119C>T
AA Mutation	p.Arg707Ter(p.R707*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000248594
Start	77626898:77626899(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1219_1220insAGGCAACT
AA Mutation	p.Arg407LysfsTer23(p.R407Kfs*23)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PTPN12

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77626962:77626962(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1283A>C
AA Mutation	p.Lys428Thr(p.K428T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77639231:77639231(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2294G>A
AA Mutation	p.Arg765Gln(p.R765Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000248594
Start	77627135:77627135(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1456A>C
AA Mutation	p.Asn486His(p.N486H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000248594
Start	77610804:77610804(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.802G>T
AA Mutation	p.Glu268Ter(p.E268*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000248594
Start	77571144:77571144(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.166G>T
AA Mutation	p.Glu56Ter(p.E56*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000248594
Start	77610768:77610769(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.766_767insC
AA Mutation	p.Ile256ThrfsTer6(p.I256Tfs*6)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript