| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000272322 |
| Start |
63933950:63933950(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1462G>T |
| AA Mutation |
p.Glu488Ter(p.E488*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000272322 |
| Start |
63947434:63947435(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1193dupT |
| AA Mutation |
p.Leu398PhefsTer6(p.L398Ffs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> VPS54
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000272322 |
| Start |
63893492:63893492(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2872G>A |
| AA Mutation |
p.Ala958Thr(p.A958T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000272322 |
| Start |
63949039:63949039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1135G>T |
| AA Mutation |
p.Glu379Ter(p.E379*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|