| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377346 |
| Start |
9715979:9715979(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.505delC |
| AA Mutation |
p.Leu169CysfsTer48(p.L169Cfs*48) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000377346 |
| Start |
9720019:9720019(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1339+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PIK3CD
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377346 |
| Start |
9716537:9716537(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.698T>G |
| AA Mutation |
p.Val233Gly(p.V233G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377346 |
| Start |
9726949:9726949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3038A>G |
| AA Mutation |
p.Lys1013Arg(p.K1013R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377346 |
| Start |
9722013:9722013(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2094C>A |
| AA Mutation |
p.Phe698Leu(p.F698L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377346 |
| Start |
9722013:9722013(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370548772
|
| CDS Mutation |
c.2094C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|