| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000303391 |
| Start |
154030482:154030482(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1346delA |
| AA Mutation |
p.Lys449SerfsTer33(p.K449Sfs*33) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000303391 |
| Start |
154030533:154030534(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1294_1295insTGTAA |
| AA Mutation |
p.Glu432ValfsTer2(p.E432Vfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MECP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303391 |
| Start |
154031355:154031355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs28934906
|
| CDS Mutation |
c.473C>T |
| AA Mutation |
p.Thr158Met(p.T158M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|