| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357628 |
| Start |
124863398:124863398(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.498T>A |
| AA Mutation |
p.Cys166Ter(p.C166*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357628 |
| Start |
124824019:124824020(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1847_1848insCCATGCTA |
| AA Mutation |
p.Asp617HisfsTer20(p.D617Hfs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> POT1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357628 |
| Start |
124892297:124892297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.93C>A |
| AA Mutation |
p.Phe31Leu(p.F31L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357628 |
| Start |
124827225:124827225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1675C>T |
| AA Mutation |
p.Leu559Phe(p.L559F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|