Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> HSD17B4

Mutation ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000256216
Start 119452631:119452631(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148363262
CDS Mutation c.56C>T
AA Mutation p.Ala19Val(p.A19V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000256216
Start 119529909:119529909(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1783G>T
AA Mutation p.Asp595Tyr(p.D595Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000256216
Start 119489230:119489230(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.661C>A
AA Mutation p.Leu221Ile(p.L221I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000256216
Start 119509225:119509225(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1418G>A
AA Mutation p.Arg473Gln(p.R473Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000256216
Start 119531311:119531311(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201560431
CDS Mutation c.1900C>T
AA Mutation p.Arg634Cys(p.R634C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000256216
Start 119489265:119489265(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.696G>T
AA Mutation p.Glu232Asp(p.E232D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000256216
Start 119527200:119527200(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1748G>T
AA Mutation p.Arg583Ile(p.R583I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000256216
Start 119525963:119525963(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1620T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000256216
Start 119493891:119493891(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.813T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000256216
Start 119541952:119541952(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2169C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000256216
Start 119536532:119536532(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2103C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000256216
Start 119536530:119536531(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2102_2103insAAAAATAG
AA Mutation p.Leu703IlefsTer15(p.L703Ifs*15)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> HSD17B4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000256216
Start 119499422:119499422(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1078G>T
AA Mutation p.Asp360Tyr(p.D360Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000256216
Start 119527200:119527200(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1748G>T
AA Mutation p.Arg583Ile(p.R583I)
Mutation Classification Missense_Mutation
Feature Type Transcript