Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EPM2AIP1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000322716
Start 36992179:36992179(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.899C>T
AA Mutation p.Thr300Ile(p.T300I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000322716
Start 36992947:36992947(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.131G>A
AA Mutation p.Arg44His(p.R44H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000322716
Start 36992279:36992279(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.799G>T
AA Mutation p.Ala267Ser(p.A267S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000322716
Start 36991998:36991998(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1080G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000322716
Start 36991347:36991347(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1731T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000322716
Start 36991500:36991500(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1578G>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000322716
Start 36992214:36992214(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.864C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000322716
Start 36992458:36992458(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.620delA
AA Mutation p.Asp207ValfsTer3(p.D207Vfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000322716
Start 36992576:36992576(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.502C>T
AA Mutation p.Arg168Ter(p.R168*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence stop_gained
Transcription ID ENST00000322716
Start 36992135:36992135(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.943C>T
AA Mutation p.Arg315Ter(p.R315*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000322716
Start 36991788:36991789(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1289dupA
AA Mutation p.Asn430LysfsTer13(p.N430Kfs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000322716
Start 36991726:36991727(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1351_1352insTTAAATGG
AA Mutation p.Asp451ValfsTer16(p.D451Vfs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> EPM2AIP1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000322716
Start 36991508:36991508(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1570G>T
AA Mutation p.Asp524Tyr(p.D524Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000322716
Start 36991720:36991720(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1358A>C
AA Mutation p.Lys453Thr(p.K453T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000322716
Start 36991381:36991381(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748458069
CDS Mutation c.1697G>A
AA Mutation p.Arg566Gln(p.R566Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000322716
Start 36991666:36991666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1412T>C
AA Mutation p.Phe471Ser(p.F471S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000322716
Start 36992197:36992197(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.881T>C
AA Mutation p.Val294Ala(p.V294A)
Mutation Classification Missense_Mutation
Feature Type Transcript