Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ACTN1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000193403
Start 68880071:68880071(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2171T>G
AA Mutation p.Ile724Ser(p.I724S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000193403
Start 68884308:68884308(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372651589
CDS Mutation c.1495C>T
AA Mutation p.Arg499Trp(p.R499W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000193403
Start 68880102:68880102(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2140C>T
AA Mutation p.Arg714Cys(p.R714C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000193403
Start 68874990:68874990(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148344567
CDS Mutation c.2548C>T
AA Mutation p.Arg850Cys(p.R850C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000193403
Start 68879964:68879964(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781540049
CDS Mutation c.2278C>T
AA Mutation p.Arg760Trp(p.R760W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000193403
Start 68874992:68874992(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371440985
CDS Mutation c.2546G>A
AA Mutation p.Arg849His(p.R849H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000193403
Start 68879008:68879008(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2342A>G
AA Mutation p.Asp781Gly(p.D781G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000193403
Start 68880069:68880069(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201419872
CDS Mutation c.2173G>A
AA Mutation p.Ala725Thr(p.A725T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000193403
Start 68925599:68925599(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750397684
CDS Mutation c.179G>A
AA Mutation p.Arg60Gln(p.R60Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000193403
Start 68921016:68921016(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144795702
CDS Mutation c.330C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000193403
Start 68874952:68874952(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2586G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000193403
Start 68874991:68874991(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768105419
CDS Mutation c.2547C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000193403
Start 68912228:68912229(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.354_355insGA
AA Mutation p.Asn119GlufsTer3(p.N119Efs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 14
Mutation Consequence inframe_deletion
Transcription ID ENST00000193403
Start 68892149:68892151(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.988_990delGAG
AA Mutation p.Glu330del(p.E330del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> ACTN1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000193403
Start 68921051:68921051(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.295T>G
AA Mutation p.Phe99Val(p.F99V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000193403
Start 68879045:68879045(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2305G>A
AA Mutation p.Glu769Lys(p.E769K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000193403
Start 68883024:68883024(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1667C>T
AA Mutation p.Ala556Val(p.A556V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000193403
Start 68884302:68884302(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368356125
CDS Mutation c.1501G>A
AA Mutation p.Glu501Lys(p.E501K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000193403
Start 68912185:68912185(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.398G>A
AA Mutation p.Arg133His(p.R133H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000193403
Start 68884300:68884300(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1503G>A
Mutation Classification Silent
Feature Type Transcript