| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000339364 |
| Start |
96620378:96620378(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1915C>T |
| AA Mutation |
p.Arg639Ter(p.R639*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000339364 |
| Start |
96623522:96623523(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1684dupA |
| AA Mutation |
p.Ser562LysfsTer34(p.S562Kfs*34) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PIK3AP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339364 |
| Start |
96609726:96609726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2156C>T |
| AA Mutation |
p.Thr719Ile(p.T719I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339364 |
| Start |
96709645:96709645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.352T>G |
| AA Mutation |
p.Trp118Gly(p.W118G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000339364 |
| Start |
96656873:96656873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778934212
|
| CDS Mutation |
c.492G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|