Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> GEN1

Mutation ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000317402
Start 17780121:17780121(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754490164
CDS Mutation c.1408C>T
AA Mutation p.Arg470Cys(p.R470C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000317402
Start 17761404:17761404(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.170T>A
AA Mutation p.Phe57Tyr(p.F57Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000317402
Start 17781160:17781160(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1948G>A
AA Mutation p.Asp650Asn(p.D650N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000317402
Start 17781737:17781737(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2525G>A
AA Mutation p.Ser842Asn(p.S842N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000317402
Start 17781687:17781687(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2475A>C
AA Mutation p.Gln825His(p.Q825H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000317402
Start 17771282:17771282(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.797A>G
AA Mutation p.His266Arg(p.H266R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000317402
Start 17780773:17780773(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1561T>C
AA Mutation p.Ser521Pro(p.S521P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000317402
Start 17773278:17773278(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1050A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000317402
Start 17780069:17780069(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772523095
CDS Mutation c.1356C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence stop_gained
Transcription ID ENST00000317402
Start 17781325:17781325(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2113G>T
AA Mutation p.Glu705Ter(p.E705*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000317402
Start 17773125:17773126(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.983_984insTAATAAGAAATGTGAATTTA
AA Mutation p.His329AsnfsTer16(p.H329Nfs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000317402
Start 17781467:17781468(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2255_2256insAAGA
AA Mutation p.Ser753ArgfsTer9(p.S753Rfs*9)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> GEN1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000317402
Start 17781045:17781045(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1833A>C
AA Mutation p.Lys611Asn(p.K611N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000317402
Start 17780778:17780778(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1566T>G
AA Mutation p.Ile522Met(p.I522M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000317402
Start 17780069:17780069(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772523095
CDS Mutation c.1356C>T
Mutation Classification Silent
Feature Type Transcript