| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392373 |
| Start |
130798555:130798555(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.756delA |
| AA Mutation |
p.Ala253LeufsTer14(p.A253Lfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000392373 |
| Start |
130808642:130808642(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763502332
|
| CDS Mutation |
c.343C>T |
| AA Mutation |
p.Arg115Ter(p.R115*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> STX2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392373 |
| Start |
130812977:130812977(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.260A>C |
| AA Mutation |
p.Lys87Thr(p.K87T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392373 |
| Start |
130821693:130821693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.201A>C |
| AA Mutation |
p.Glu67Asp(p.E67D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|