| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000420770 |
| Start |
18691819:18691819(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.652C>T |
| AA Mutation |
p.Arg218Ter(p.R218*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000420770 |
| Start |
18700766:18700767(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs754858754
|
| CDS Mutation |
c.906dupC |
| AA Mutation |
p.Tyr303LeufsTer61(p.Y303Lfs*61) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PAX7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000420770 |
| Start |
18691759:18691759(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375284574
|
| CDS Mutation |
c.592C>T |
| AA Mutation |
p.Arg198Trp(p.R198W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000420770 |
| Start |
18634476:18634476(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.259C>A |
| AA Mutation |
p.Leu87Ile(p.L87I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000420770 |
| Start |
18735670:18735670(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766495134
|
| CDS Mutation |
c.1194G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|