| Mutation ID |
19 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000276373 |
| Start |
20174386:20174387(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.605_606insGTAAATA |
| AA Mutation |
p.Ile202MetfsTer2(p.I202Mfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000276373 |
| Start |
20174385:20174386(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.606_607insA |
| AA Mutation |
p.Gly203ArgfsTer19(p.G203Rfs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC18A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000276373 |
| Start |
20147268:20147268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1454A>C |
| AA Mutation |
p.Glu485Ala(p.E485A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000276373 |
| Start |
20148041:20148041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1176C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|