Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PPM1D

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000305921
Start	60656836:60656836(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1255G>A
AA Mutation	p.Val419Ile(p.V419I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000305921
Start	60663077:60663077(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200334649
CDS Mutation	c.1343A>G
AA Mutation	p.Asn448Ser(p.N448S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000305921
Start	60663366:60663366(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1632C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000305921
Start	60663263:60663263(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs766595966
CDS Mutation	c.1535delA
AA Mutation	p.Asn512IlefsTer2(p.N512Ifs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000305921
Start	60663307:60663307(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759850701
CDS Mutation	c.1573G>T
AA Mutation	p.Glu525Ter(p.E525*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000305921
Start	60663262:60663263(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs763475304
CDS Mutation	c.1535dupA
AA Mutation	p.Asn512LysfsTer16(p.N512Kfs*16)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000305921
Start	60656622:60656623(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1045dupA
AA Mutation	p.Met349AsnfsTer19(p.M349Nfs*19)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PPM1D

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000305921
Start	60633894:60633894(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.743G>A
AA Mutation	p.Arg248Gln(p.R248Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000305921
Start	60663317:60663317(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1583G>T
AA Mutation	p.Arg528Ile(p.R528I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000305921
Start	60663307:60663307(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759850701
CDS Mutation	c.1573G>T
AA Mutation	p.Glu525Ter(p.E525*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript