Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EPB41L4B

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000374566
Start 109256401:109256401(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372905406
CDS Mutation c.832G>A
AA Mutation p.Val278Ile(p.V278I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000374566
Start 109255524:109255524(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746270390
CDS Mutation c.1156C>T
AA Mutation p.Arg386Cys(p.R386C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000374566
Start 109279894:109279894(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.334G>A
AA Mutation p.Asp112Asn(p.D112N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000374566
Start 109253504:109253504(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1216A>G
AA Mutation p.Thr406Ala(p.T406A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000374566
Start 109208038:109208038(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1764G>T
AA Mutation p.Lys588Asn(p.K588N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000374566
Start 109255545:109255545(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1135G>A
AA Mutation p.Asp379Asn(p.D379N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000374566
Start 109174562:109174562(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758983596
CDS Mutation c.2695G>A
AA Mutation p.Glu899Lys(p.E899K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000374566
Start 109185596:109185596(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs532088774
CDS Mutation c.2311G>A
AA Mutation p.Ala771Thr(p.A771T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000374566
Start 109256459:109256459(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.774G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence frameshift_variant
Transcription ID ENST00000374566
Start 109174589:109174590(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs762033963
CDS Mutation c.2667_2668delGA
AA Mutation p.Lys890AspfsTer38(p.K890Dfs*38)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 11
Mutation Consequence stop_gained
Transcription ID ENST00000374566
Start 109267525:109267525(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.481C>T
AA Mutation p.Arg161Ter(p.R161*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000374566
Start 109253510:109253510(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377479255
CDS Mutation c.1210C>T
AA Mutation p.Arg404Ter(p.R404*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000374566
Start 109182798:109182798(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2419-1G>T
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> EPB41L4B

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000374566
Start 109194303:109194303(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201636849
CDS Mutation c.2140G>A
AA Mutation p.Val714Met(p.V714M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000374566
Start 109203692:109203692(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1917G>T
AA Mutation p.Lys639Asn(p.K639N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000374566
Start 109267504:109267504(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.502G>A
AA Mutation p.Glu168Lys(p.E168K)
Mutation Classification Missense_Mutation
Feature Type Transcript