Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PAX3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222232151:222232151(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.719G>T
AA Mutation p.Arg240Ile(p.R240I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222221368:222221368(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774528745
CDS Mutation c.812G>A
AA Mutation p.Arg271His(p.R271H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222202093:222202093(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770087251
CDS Mutation c.1271C>T
AA Mutation p.Thr424Met(p.T424M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222221374:222221374(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.806A>G
AA Mutation p.Asn269Ser(p.N269S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222297189:222297189(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.110G>A
AA Mutation p.Arg37His(p.R37H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222202115:222202115(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs528350431
CDS Mutation c.1249G>A
AA Mutation p.Gly417Arg(p.G417R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222202018:222202018(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1346G>A
AA Mutation p.Cys449Tyr(p.C449Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222232085:222232085(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.785G>A
AA Mutation p.Arg262Gln(p.R262Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222232211:222232211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.659G>A
AA Mutation p.Arg220His(p.R220H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222220303:222220303(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1010G>T
AA Mutation p.Ser337Ile(p.S337I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222297069:222297069(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.230G>A
AA Mutation p.Arg77His(p.R77H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000350526
Start 222202134:222202134(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147111779
CDS Mutation c.1230C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000350526
Start 222201951:222201951(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1413T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000350526
Start 222220332:222220332(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374429328
CDS Mutation c.981C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000350526
Start 222297104:222297104(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.195C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence frameshift_variant
Transcription ID ENST00000350526
Start 222221301:222221301(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.879delG
AA Mutation p.Phe294SerfsTer87(p.F294Sfs*87)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000350526
Start 222221351:222221351(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.829C>T
AA Mutation p.Gln277Ter(p.Q277*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence frameshift_variant
Transcription ID ENST00000350526
Start 222297152:222297153(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.146_147insCC
AA Mutation p.Arg49SerfsTer62(p.R49Sfs*62)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> PAX3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222294212:222294212(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145331372
CDS Mutation c.541G>A
AA Mutation p.Glu181Lys(p.E181K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000350526
Start 222297097:222297097(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.202C>T
AA Mutation p.Arg68Trp(p.R68W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000350526
Start 222298598:222298598(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18C>T
Mutation Classification Silent
Feature Type Transcript