| Mutation ID |
14 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000299502 |
| Start |
63901833:63901834(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.629_630insATAACATATATTTAGG |
| AA Mutation |
p.Pro211Ter(p.P211*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000299502 |
| Start |
63897806:63897807(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs754046467
|
| CDS Mutation |
c.503dupA |
| AA Mutation |
p.Ile169AspfsTer2(p.I169Dfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SERPINB2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299502 |
| Start |
63902467:63902467(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.742G>T |
| AA Mutation |
p.Asp248Tyr(p.D248Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299502 |
| Start |
63897816:63897816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.507T>G |
| AA Mutation |
p.Ile169Met(p.I169M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299502 |
| Start |
63902983:63902983(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.926T>C |
| AA Mutation |
p.Ile309Thr(p.I309T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299502 |
| Start |
63903095:63903095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776995084
|
| CDS Mutation |
c.1038G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|