| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000292599 |
| Start |
179765486:179765486(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.481delC |
| AA Mutation |
p.Leu161SerfsTer23(p.L161Sfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000292599 |
| Start |
179765374:179765374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.364C>T |
| AA Mutation |
p.Gln122Ter(p.Q122*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MAML1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292599 |
| Start |
179773941:179773941(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2115C>A |
| AA Mutation |
p.Asn705Lys(p.N705K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292599 |
| Start |
179766382:179766382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1372G>T |
| AA Mutation |
p.Asp458Tyr(p.D458Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|