Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SMAD1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000302085
Start 145546784:145546784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.857C>T
AA Mutation p.Ala286Val(p.A286V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000302085
Start 145514915:145514915(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.302A>G
AA Mutation p.His101Arg(p.H101R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000302085
Start 145546883:145546883(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.956G>A
AA Mutation p.Arg319Gln(p.R319Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000302085
Start 145514999:145514999(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.386G>A
AA Mutation p.Arg129Lys(p.R129K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000302085
Start 145542666:145542666(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs576994811
CDS Mutation c.743C>T
AA Mutation p.Ala248Val(p.A248V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000302085
Start 145554012:145554012(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765987226
CDS Mutation c.1226T>C
AA Mutation p.Met409Thr(p.M409T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000302085
Start 145542698:145542698(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.775G>A
AA Mutation p.Asp259Asn(p.D259N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000302085
Start 145539993:145539993(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.590G>T
AA Mutation p.Gly197Val(p.G197V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000302085
Start 145514682:145514682(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373113912
CDS Mutation c.69C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000302085
Start 145546755:145546755(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.828C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000302085
Start 145514728:145514728(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.120delA
AA Mutation p.Lys40AsnfsTer2(p.K40Nfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript

Rectum Cancer: Gene >> SMAD1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000302085
Start 145553820:145553820(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1034C>T
AA Mutation p.Ala345Val(p.A345V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000302085
Start 145514733:145514733(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.120A>G
Mutation Classification Silent
Feature Type Transcript