| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316316 |
| Start |
118815792:118815792(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2464delA |
| AA Mutation |
p.Arg822GlyfsTer2(p.R822Gfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000316316 |
| Start |
118827939:118827939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1720C>T |
| AA Mutation |
p.Arg574Ter(p.R574*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MCM9
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316316 |
| Start |
118911676:118911676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1124C>G |
| AA Mutation |
p.Thr375Ser(p.T375S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316316 |
| Start |
118931624:118931624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.100G>A |
| AA Mutation |
p.Glu34Lys(p.E34K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000316316 |
| Start |
118917561:118917561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.904G>T |
| AA Mutation |
p.Gly302Ter(p.G302*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|