| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000445902 |
| Start |
33269087:33269087(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778967567
|
| CDS Mutation |
c.475C>T |
| AA Mutation |
p.Arg159Ter(p.R159*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000445902 |
| Start |
33264408:33264409(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1489dupC |
| AA Mutation |
p.Gln497ProfsTer33(p.Q497Pfs*33) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> VPS52
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000445902 |
| Start |
33266652:33266652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776931349
|
| CDS Mutation |
c.1186G>A |
| AA Mutation |
p.Glu396Lys(p.E396K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000445902 |
| Start |
33267303:33267303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377130721
|
| CDS Mutation |
c.1010C>T |
| AA Mutation |
p.Ser337Leu(p.S337L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000445902 |
| Start |
33251890:33251890(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1876G>A |
| AA Mutation |
p.Gly626Arg(p.G626R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000445902 |
| Start |
33267297:33267297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs565653358
|
| CDS Mutation |
c.1016G>A |
| AA Mutation |
p.Arg339His(p.R339H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000445902 |
| Start |
33264428:33264428(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750596630
|
| CDS Mutation |
c.1470C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000445902 |
| Start |
33269538:33269538(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.324T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|