Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SMPD1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000342245
Start 6394365:6394365(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1654C>T
AA Mutation p.Pro552Ser(p.P552S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000342245
Start 6393257:6393257(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs559088058
CDS Mutation c.1133G>A
AA Mutation p.Arg378His(p.R378H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000342245
Start 6392102:6392102(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373508268
CDS Mutation c.1037C>T
AA Mutation p.Ala346Val(p.A346V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000342245
Start 6390816:6390816(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.218T>C
AA Mutation p.Leu73Ser(p.L73S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000342245
Start 6391936:6391936(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.871C>A
AA Mutation p.Arg291Ser(p.R291S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000342245
Start 6391912:6391912(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752148586
CDS Mutation c.847G>A
AA Mutation p.Ala283Thr(p.A283T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000342245
Start 6393681:6393681(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377609894
CDS Mutation c.1328G>A
AA Mutation p.Arg443Gln(p.R443Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000342245
Start 6394515:6394515(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763099671
CDS Mutation c.1804C>T
AA Mutation p.Arg602Cys(p.R602C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000342245
Start 6394432:6394432(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1721T>G
AA Mutation p.Phe574Cys(p.F574C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000342245
Start 6391966:6391966(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs2723669
CDS Mutation c.901G>A
AA Mutation p.Val301Ile(p.V301I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000342245
Start 6393923:6393923(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1368C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000342245
Start 6392056:6392056(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs772960412
CDS Mutation c.996delC
AA Mutation p.Phe333SerfsTer52(p.F333Sfs*52)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000342245
Start 6390678:6390678(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs750157176
CDS Mutation c.84delC
AA Mutation p.Gly29AspfsTer48(p.G29Dfs*48)
Mutation Classification Frame_Shift_Del
Feature Type Transcript

Rectum Cancer: Gene >> SMPD1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000342245
Start 6392033:6392033(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.968G>C
AA Mutation p.Ser323Thr(p.S323T)
Mutation Classification Missense_Mutation
Feature Type Transcript