Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MAML1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000292599
Start 179765435:179765435(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139314513
CDS Mutation c.425G>A
AA Mutation p.Arg142Gln(p.R142Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000292599
Start 179766281:179766281(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1271C>G
AA Mutation p.Pro424Arg(p.P424R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000292599
Start 179766359:179766359(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1349C>T
AA Mutation p.Ala450Val(p.A450V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000292599
Start 179766517:179766517(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201881355
CDS Mutation c.1507G>A
AA Mutation p.Ala503Thr(p.A503T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000292599
Start 179765911:179765911(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.901G>A
AA Mutation p.Glu301Lys(p.E301K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000292599
Start 179766412:179766412(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763800343
CDS Mutation c.1402C>T
AA Mutation p.Pro468Ser(p.P468S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000292599
Start 179774273:179774273(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2447T>C
AA Mutation p.Leu816Pro(p.L816P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000292599
Start 179766366:179766366(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1356T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000292599
Start 179771182:179771182(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2007A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence frameshift_variant
Transcription ID ENST00000292599
Start 179766278:179766278(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1271delC
AA Mutation p.Pro424ArgfsTer17(p.P424Rfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000292599
Start 179766137:179766137(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1129delC
AA Mutation p.Ala378GlnfsTer63(p.A378Qfs*63)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000292599
Start 179765486:179765486(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.481delC
AA Mutation p.Leu161SerfsTer23(p.L161Sfs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000292599
Start 179765374:179765374(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.364C>T
AA Mutation p.Gln122Ter(p.Q122*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> MAML1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000292599
Start 179773941:179773941(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2115C>A
AA Mutation p.Asn705Lys(p.N705K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000292599
Start 179766382:179766382(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1372G>T
AA Mutation p.Asp458Tyr(p.D458Y)
Mutation Classification Missense_Mutation
Feature Type Transcript