Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RECQL

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000421138
Start 21475493:21475493(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1191T>A
AA Mutation p.Asn397Lys(p.N397K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000421138
Start 21475471:21475471(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1213G>A
AA Mutation p.Ala405Thr(p.A405T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000421138
Start 21477928:21477928(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202110155
CDS Mutation c.742G>A
AA Mutation p.Ala248Thr(p.A248T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000421138
Start 21476927:21476927(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.933A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence splice_donor_variant
Transcription ID ENST00000421138
Start 21490197:21490197(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.394+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 6
Mutation Consequence splice_donor_variant
Transcription ID ENST00000421138
Start 21475467:21475467(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199622367
CDS Mutation c.1216+1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> RECQL

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000421138
Start 21471447:21471447(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1648C>G
AA Mutation p.Leu550Val(p.L550V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000421138
Start 21477928:21477928(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202110155
CDS Mutation c.742G>A
AA Mutation p.Ala248Thr(p.A248T)
Mutation Classification Missense_Mutation
Feature Type Transcript