Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PTHLH

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000395872
Start	27963474:27963474(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.398G>A
AA Mutation	p.Arg133His(p.R133H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000395872
Start	27963366:27963366(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778459165
CDS Mutation	c.506C>T
AA Mutation	p.Ser169Leu(p.S169L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000395872
Start	27963369:27963369(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.503C>T
AA Mutation	p.Thr168Met(p.T168M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000395872
Start	27963387:27963387(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.485T>C
AA Mutation	p.Leu162Pro(p.L162P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000395872
Start	27969426:27969426(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.69C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000395872
Start	27969465:27969465(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.30C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000395872
Start	27963592:27963592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.280C>T
AA Mutation	p.Arg94Ter(p.R94*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> PTHLH

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000395872
Start	27963591:27963591(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.281G>A
AA Mutation	p.Arg94Gln(p.R94Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000395872
Start	27963765:27963765(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.107G>C
AA Mutation	p.Arg36Thr(p.R36T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000395872
Start	27963399:27963399(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.473A>C
AA Mutation	p.Glu158Ala(p.E158A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000395872
Start	27963448:27963448(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.424C>T
AA Mutation	p.Arg142Ter(p.R142*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript