Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ECHS1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000368547
Start 133373281:133373281(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.53C>T
AA Mutation p.Pro18Leu(p.P18L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000368547
Start 133366977:133366977(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.531G>T
AA Mutation p.Gln177His(p.Q177H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000368547
Start 133370734:133370734(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745362960
CDS Mutation c.112G>A
AA Mutation p.Ala38Thr(p.A38T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000368547
Start 133362926:133362926(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs575638199
CDS Mutation c.815G>A
AA Mutation p.Arg272Gln(p.R272Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000368547
Start 133370660:133370660(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754145676
CDS Mutation c.186C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000368547
Start 133370696:133370699(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.147_150delGATC
AA Mutation p.Leu49PhefsTer3(p.L49Ffs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 7
Mutation Consequence stop_gained
Transcription ID ENST00000368547
Start 133364720:133364720(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.745G>T
AA Mutation p.Glu249Ter(p.E249*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> ECHS1

Mutation ID 1
Mutation Consequence frameshift_variant
Transcription ID ENST00000368547
Start 133366029:133366030(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.685dupA
AA Mutation p.Ile229AsnfsTer6(p.I229Nfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript