| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000415374 |
| Start |
55646289:55646289(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1708delA |
| AA Mutation |
p.Ile570LeufsTer2(p.I570Lfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained;NMD_transcript_variant |
| Transcription ID |
ENST00000415374 |
| Start |
55679787:55679787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.574C>T |
| AA Mutation |
p.Arg192Ter(p.R192*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PNPT1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000415374 |
| Start |
55667067:55667067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1100T>A |
| AA Mutation |
p.Leu367His(p.L367H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000415374 |
| Start |
55656186:55656186(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1386T>G |
| AA Mutation |
p.Ile462Met(p.I462M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000415374 |
| Start |
55645364:55645364(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1807A>C |
| AA Mutation |
p.Asn603His(p.N603H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000415374 |
| Start |
55679732:55679732(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.629C>A |
| AA Mutation |
p.Ser210Tyr(p.S210Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|