Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ATP6V1H

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000359530
Start	53772026:53772026(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1012C>A
AA Mutation	p.Leu338Ile(p.L338I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000359530
Start	53772103:53772103(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.935G>A
AA Mutation	p.Cys312Tyr(p.C312Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000359530
Start	53756555:53756555(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770965453
CDS Mutation	c.1277G>A
AA Mutation	p.Arg426Gln(p.R426Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000359530
Start	53833057:53833057(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.143A>G
AA Mutation	p.Glu48Gly(p.E48G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000359530
Start	53772110:53772110(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.928A>G
AA Mutation	p.Ile310Val(p.I310V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000359530
Start	53743576:53743576(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1391+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> ATP6V1H

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000359530
Start	53801892:53801892(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770394341
CDS Mutation	c.584C>T
AA Mutation	p.Ser195Leu(p.S195L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000359530
Start	53817517:53817517(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs562675599
CDS Mutation	c.320G>A
AA Mutation	p.Arg107His(p.R107H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000359530
Start	53817518:53817518(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748113513
CDS Mutation	c.319C>T
AA Mutation	p.Arg107Cys(p.R107C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript