| 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 |
|