Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SMC2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104129700:104129700(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2846G>T
AA Mutation p.Gly949Val(p.G949V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104102452:104102452(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.899A>G
AA Mutation p.Glu300Gly(p.E300G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104114703:104114703(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1545G>C
AA Mutation p.Lys515Asn(p.K515N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104111663:104111663(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1103A>C
AA Mutation p.Lys368Thr(p.K368T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104129809:104129809(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2955G>A
AA Mutation p.Met985Ile(p.M985I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104132114:104132114(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3097G>A
AA Mutation p.Ala1033Thr(p.A1033T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104102018:104102018(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760941119
CDS Mutation c.695G>A
AA Mutation p.Arg232His(p.R232H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104114078:104114078(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1529A>G
AA Mutation p.Tyr510Cys(p.Y510C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104118286:104118286(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754224682
CDS Mutation c.1907C>T
AA Mutation p.Ala636Val(p.A636V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104132024:104132024(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3007A>G
AA Mutation p.Lys1003Glu(p.K1003E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104102544:104102544(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs180923911
CDS Mutation c.991C>T
AA Mutation p.Arg331Cys(p.R331C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104139209:104139209(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3488A>G
AA Mutation p.Asp1163Gly(p.D1163G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104102102:104102102(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.779T>A
AA Mutation p.Val260Asp(p.V260D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104100100:104100100(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.488C>G
AA Mutation p.Ser163Cys(p.S163C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104120099:104120099(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2069T>A
AA Mutation p.Ile690Asn(p.I690N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104102115:104102115(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.792G>C
AA Mutation p.Gln264His(p.Q264H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104111599:104111599(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1039G>A
AA Mutation p.Ala347Thr(p.A347T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104118239:104118239(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1860G>T
AA Mutation p.Met620Ile(p.M620I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000286398
Start 104102498:104102498(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371568094
CDS Mutation c.945C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000286398
Start 104095456:104095456(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147385187
CDS Mutation c.72C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence frameshift_variant
Transcription ID ENST00000286398
Start 104123220:104123220(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2251delA
AA Mutation p.Thr751ProfsTer9(p.T751Pfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 22
Mutation Consequence frameshift_variant
Transcription ID ENST00000286398
Start 104100169:104100169(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.563delA
AA Mutation p.Lys188ArgfsTer5(p.K188Rfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 23
Mutation Consequence frameshift_variant
Transcription ID ENST00000286398
Start 104102137:104102137(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.820delA
AA Mutation p.Ile274Ter(p.I274*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 24
Mutation Consequence frameshift_variant
Transcription ID ENST00000286398
Start 104100141:104100141(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.535delA
AA Mutation p.Ile179Ter(p.I179*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 25
Mutation Consequence stop_gained
Transcription ID ENST00000286398
Start 104118228:104118228(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1849C>T
AA Mutation p.Gln617Ter(p.Q617*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence stop_gained
Transcription ID ENST00000286398
Start 104114038:104114038(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1489G>T
AA Mutation p.Glu497Ter(p.E497*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence splice_donor_variant;coding_sequence_variant;intron_variant
Transcription ID ENST00000286398
Start 104120155:104120192(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2125_2132+30delGCTGAAAAGTAAGAACTGCATATACTTTTTTTAATTAA
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> SMC2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000286398
Start 104120106:104120106(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2076G>T
AA Mutation p.Glu692Asp(p.E692D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000286398
Start 104138139:104138139(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3391C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000286398
Start 104123220:104123220(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2251delA
AA Mutation p.Thr751ProfsTer9(p.T751Pfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000286398
Start 104101999:104101999(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.676G>T
AA Mutation p.Glu226Ter(p.E226*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000286398
Start 104123205:104123205(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2230G>T
AA Mutation p.Glu744Ter(p.E744*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript