Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MAN1A1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000368468
Start 119348657:119348657(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.409G>A
AA Mutation p.Glu137Lys(p.E137K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000368468
Start 119290762:119290762(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.818A>T
AA Mutation p.Asn273Ile(p.N273I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000368468
Start 119204802:119204802(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1073T>C
AA Mutation p.Met358Thr(p.M358T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000368468
Start 119188454:119188454(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1670G>A
AA Mutation p.Arg557Lys(p.R557K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000368468
Start 119248347:119248347(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774209358
CDS Mutation c.905G>A
AA Mutation p.Arg302Gln(p.R302Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000368468
Start 119179868:119179868(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199809553
CDS Mutation c.1913T>C
AA Mutation p.Leu638Pro(p.L638P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000368468
Start 119306977:119306977(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.619T>C
AA Mutation p.Trp207Arg(p.W207R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000368468
Start 119348894:119348894(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.172G>A
AA Mutation p.Ala58Thr(p.A58T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000368468
Start 119302029:119302029(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.775G>C
AA Mutation p.Glu259Gln(p.E259Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000368468
Start 119193844:119193844(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1259T>C
AA Mutation p.Leu420Pro(p.L420P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000368468
Start 119189833:119189833(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757838527
CDS Mutation c.1377C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000368468
Start 119348548:119348548(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.518delC
AA Mutation p.Pro173ArgfsTer30(p.P173Rfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000368468
Start 119348851:119348852(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.214dupG
AA Mutation p.Val72GlyfsTer93(p.V72Gfs*93)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> MAN1A1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000368468
Start 119189669:119189669(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1541G>A
AA Mutation p.Arg514Gln(p.R514Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence stop_gained
Transcription ID ENST00000368468
Start 119189670:119189670(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1540C>T
AA Mutation p.Arg514Ter(p.R514*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript