Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> AMPD1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114673187:114673187(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2270G>A
AA Mutation p.Arg757His(p.R757H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114677984:114677984(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1249G>T
AA Mutation p.Ala417Ser(p.A417S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114673175:114673175(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142643298
CDS Mutation c.2282G>A
AA Mutation p.Arg761His(p.R761H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114686900:114686900(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.325T>G
AA Mutation p.Phe109Val(p.F109V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114688723:114688723(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140601541
CDS Mutation c.152G>A
AA Mutation p.Arg51His(p.R51H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114673710:114673710(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2113T>C
AA Mutation p.Phe705Leu(p.F705L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114674837:114674837(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1814A>G
AA Mutation p.His605Arg(p.H605R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114684302:114684302(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.543G>T
AA Mutation p.Glu181Asp(p.E181D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114673254:114673254(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2203G>A
AA Mutation p.Gly735Ser(p.G735S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114674834:114674834(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1817G>A
AA Mutation p.Cys606Tyr(p.C606Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114673227:114673227(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2230G>A
AA Mutation p.Ala744Thr(p.A744T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114680419:114680419(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.706A>C
AA Mutation p.Asn236His(p.N236H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114680439:114680439(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149424604
CDS Mutation c.686G>A
AA Mutation p.Arg229Gln(p.R229Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114675985:114675985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1506G>T
AA Mutation p.Lys502Asn(p.K502N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114679667:114679667(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.908A>G
AA Mutation p.Lys303Arg(p.K303R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000520113
Start 114686864:114686864(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.361C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000520113
Start 114677933:114677933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1300G>T
AA Mutation p.Glu434Ter(p.E434*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> AMPD1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114675598:114675598(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1710G>T
AA Mutation p.Lys570Asn(p.K570N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114675985:114675985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1506G>T
AA Mutation p.Lys502Asn(p.K502N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114673683:114673683(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374697989
CDS Mutation c.2140G>A
AA Mutation p.Glu714Lys(p.E714K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114684322:114684322(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369963978
CDS Mutation c.523C>T
AA Mutation p.Arg175Trp(p.R175W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114680439:114680439(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149424604
CDS Mutation c.686G>A
AA Mutation p.Arg229Gln(p.R229Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000520113
Start 114688724:114688724(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369335745
CDS Mutation c.151C>T
AA Mutation p.Arg51Cys(p.R51C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000520113
Start 114686780:114686792(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.433_445delGTGCCTGATTTTC
AA Mutation p.Val145ArgfsTer60(p.V145Rfs*60)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000520113
Start 114673978:114673979(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2003dupT
AA Mutation p.Leu668PhefsTer16(p.L668Ffs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript