Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SCNN1B

Mutation ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000343070
Start 23355488:23355488(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72654326
CDS Mutation c.775C>T
AA Mutation p.Arg259Trp(p.R259W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000343070
Start 23377222:23377222(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142572398
CDS Mutation c.1328T>C
AA Mutation p.Met443Thr(p.M443T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000343070
Start 23380514:23380514(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112069765
CDS Mutation c.1636G>A
AA Mutation p.Asp546Asn(p.D546N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000343070
Start 23355345:23355345(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.632C>T
AA Mutation p.Ala211Val(p.A211V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000343070
Start 23377198:23377198(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1304C>T
AA Mutation p.Ala435Val(p.A435V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000343070
Start 23348780:23348780(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72654321
CDS Mutation c.181G>A
AA Mutation p.Ala61Thr(p.A61T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000343070
Start 23380591:23380591(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758251652
CDS Mutation c.1713C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000343070
Start 23348662:23348662(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768575842
CDS Mutation c.63G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000343070
Start 23375837:23375837(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1252C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000343070
Start 23352933:23352933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.444A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000343070
Start 23377201:23377204(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1312_1315delGAGA
AA Mutation p.Glu438ProfsTer17(p.E438Pfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000343070
Start 23380152:23380152(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1525G>T
AA Mutation p.Glu509Ter(p.E509*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> SCNN1B

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000343070
Start 23352818:23352818(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.329A>G
AA Mutation p.His110Arg(p.H110R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000343070
Start 23380723:23380723(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760344381
CDS Mutation c.1845C>T
Mutation Classification Silent
Feature Type Transcript