Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SMC4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160430630:160430630(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2827C>T
AA Mutation p.Arg943Cys(p.R943C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160402679:160402679(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.322T>G
AA Mutation p.Phe108Val(p.F108V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160423482:160423482(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2077T>G
AA Mutation p.Leu693Val(p.L693V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160412049:160412049(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.817A>G
AA Mutation p.Arg273Gly(p.R273G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000344722
Start 160420740:160420740(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1858G>T
AA Mutation p.Gly620Trp(p.G620W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160417771:160417771(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs543973379
CDS Mutation c.1486C>T
AA Mutation p.Arg496Cys(p.R496C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160423519:160423519(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776113181
CDS Mutation c.2114G>A
AA Mutation p.Arg705His(p.R705H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000344722
Start 160424867:160424867(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2326G>A
AA Mutation p.Val776Ile(p.V776I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160402068:160402068(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.293A>G
AA Mutation p.Glu98Gly(p.E98G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160416365:160416365(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1387G>A
AA Mutation p.Val463Ile(p.V463I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160417819:160417819(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779745638
CDS Mutation c.1534C>T
AA Mutation p.Arg512Cys(p.R512C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160417727:160417727(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756108826
CDS Mutation c.1442G>A
AA Mutation p.Arg481Gln(p.R481Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160424961:160424961(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2420T>C
AA Mutation p.Leu807Ser(p.L807S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160423518:160423518(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760971978
CDS Mutation c.2113C>T
AA Mutation p.Arg705Cys(p.R705C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160413490:160413490(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779373182
CDS Mutation c.998G>A
AA Mutation p.Arg333Gln(p.R333Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160404470:160404470(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.653T>C
AA Mutation p.Ile218Thr(p.I218T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence frameshift_variant
Transcription ID ENST00000344722
Start 160420762:160420762(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1884delA
AA Mutation p.Lys628AsnfsTer23(p.K628Nfs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 18
Mutation Consequence stop_gained
Transcription ID ENST00000344722
Start 160404457:160404457(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368979205
CDS Mutation c.640C>T
AA Mutation p.Arg214Ter(p.R214*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence stop_gained
Transcription ID ENST00000344722
Start 160401926:160401926(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.151G>T
AA Mutation p.Glu51Ter(p.E51*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence stop_gained
Transcription ID ENST00000344722
Start 160433696:160433696(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753471840
CDS Mutation c.3754C>T
AA Mutation p.Arg1252Ter(p.R1252*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence stop_gained
Transcription ID ENST00000344722
Start 160424975:160424975(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2434C>T
AA Mutation p.Arg812Ter(p.R812*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence frameshift_variant
Transcription ID ENST00000344722
Start 160416372:160416373(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1394_1395insGCATACATCTT
AA Mutation p.Asp465GlufsTer32(p.D465Efs*32)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> SMC4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160423518:160423518(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760971978
CDS Mutation c.2113C>T
AA Mutation p.Arg705Cys(p.R705C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160420841:160420841(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1959A>T
AA Mutation p.Glu653Asp(p.E653D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160402764:160402764(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.407A>T
AA Mutation p.Lys136Ile(p.K136I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000344722
Start 160423438:160423438(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141584099
CDS Mutation c.2033C>T
AA Mutation p.Ala678Val(p.A678V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000344722
Start 160431058:160431058(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2967A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 6
Mutation Consequence stop_gained
Transcription ID ENST00000344722
Start 160404457:160404457(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368979205
CDS Mutation c.640C>T
AA Mutation p.Arg214Ter(p.R214*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript