Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> VWA5A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000392748
Start 124118316:124118316(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.374T>C
AA Mutation p.Val125Ala(p.V125A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000392748
Start 124134969:124134969(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1294G>T
AA Mutation p.Gly432Cys(p.G432C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000392748
Start 124141693:124141693(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1975G>A
AA Mutation p.Asp659Asn(p.D659N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000392748
Start 124142526:124142526(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2108T>C
AA Mutation p.Ile703Thr(p.I703T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000392748
Start 124141736:124141736(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771497215
CDS Mutation c.2018G>A
AA Mutation p.Ser673Asn(p.S673N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000392748
Start 124123754:124123754(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1114C>T
AA Mutation p.Pro372Ser(p.P372S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000392748
Start 124117545:124117545(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200114560
CDS Mutation c.34C>T
AA Mutation p.Arg12Trp(p.R12W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000392748
Start 124142524:124142524(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2106G>T
AA Mutation p.Lys702Asn(p.K702N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000392748
Start 124142527:124142527(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2109C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000392748
Start 124141692:124141692(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755192052
CDS Mutation c.1974C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000392748
Start 124123733:124123733(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs764769694
CDS Mutation c.1097delG
AA Mutation p.Gly366AlafsTer38(p.G366Afs*38)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000392748
Start 124123014:124123014(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.816delA
AA Mutation p.Asp273IlefsTer24(p.D273Ifs*24)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000392748
Start 124137094:124137094(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1710delA
AA Mutation p.Asp571MetfsTer3(p.D571Mfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 14
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000392748
Start 124142570:124142570(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2152G>T
AA Mutation p.Glu718Ter(p.E718*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence frameshift_variant
Transcription ID ENST00000392748
Start 124137245:124137246(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1857dupA
AA Mutation p.Leu620IlefsTer16(p.L620Ifs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 16
Mutation Consequence splice_donor_variant
Transcription ID ENST00000392748
Start 124123455:124123455(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748858579
CDS Mutation c.1019+1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> VWA5A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000392748
Start 124118315:124118315(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.373G>A
AA Mutation p.Val125Ile(p.V125I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000392748
Start 124123762:124123762(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1122G>T
AA Mutation p.Gln374His(p.Q374H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000392748
Start 124136242:124136242(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1473C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000392748
Start 124145933:124145933(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2349C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000392748
Start 124134987:124134987(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1316delG
AA Mutation p.Gly439AlafsTer20(p.G439Afs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript