| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000336273 |
| Start |
97661114:97661114(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770905188
|
| CDS Mutation |
c.424C>T |
| AA Mutation |
p.Arg142Ter(p.R142*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000336273 |
| Start |
97713666:97713666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1277C>G |
| AA Mutation |
p.Ser426Ter(p.S426*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MTDH
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336273 |
| Start |
97719110:97719110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143317071
|
| CDS Mutation |
c.1442G>A |
| AA Mutation |
p.Arg481His(p.R481H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336273 |
| Start |
97706715:97706715(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1237C>A |
| AA Mutation |
p.Leu413Ile(p.L413I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336273 |
| Start |
97713722:97713722(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1340delA |
| AA Mutation |
p.Lys447ArgfsTer19(p.K447Rfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|