Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PHF8

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000357988
Start 54002170:54002170(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1234C>A
AA Mutation p.Leu412Met(p.L412M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000357988
Start 54014540:54014540(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.728C>T
AA Mutation p.Pro243Leu(p.P243L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000357988
Start 53940405:53940405(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2869A>C
AA Mutation p.Thr957Pro(p.T957P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000357988
Start 53987942:53987942(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373224451
CDS Mutation c.1841C>T
AA Mutation p.Thr614Met(p.T614M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000357988
Start 53992800:53992800(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1774G>T
AA Mutation p.Asp592Tyr(p.D592Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000357988
Start 54022356:54022356(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782556188
CDS Mutation c.304C>T
AA Mutation p.Arg102Cys(p.R102C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000357988
Start 53985039:53985039(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371107125
CDS Mutation c.2426G>A
AA Mutation p.Arg809His(p.R809H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000357988
Start 53987155:53987155(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782204549
CDS Mutation c.2026C>T
AA Mutation p.Arg676Trp(p.R676W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000357988
Start 53993628:53993628(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1707G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000357988
Start 54042651:54042651(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782699338
CDS Mutation c.186C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000357988
Start 53985837:53985837(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2216delG
AA Mutation p.Gly739AspfsTer126(p.G739Dfs*126)
Mutation Classification Frame_Shift_Del
Feature Type Transcript

Rectum Cancer: Gene >> PHF8

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000357988
Start 54014528:54014528(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.740G>A
AA Mutation p.Arg247Gln(p.R247Q)
Mutation Classification Missense_Mutation
Feature Type Transcript