| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000302503 |
| Start |
47622704:47622704(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.822delA |
| AA Mutation |
p.Glu275ArgfsTer4(p.E275Rfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000302503 |
| Start |
47631049:47631049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774983894
|
| CDS Mutation |
c.466G>T |
| AA Mutation |
p.Glu156Ter(p.E156*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000302503 |
| Start |
47638799:47638800(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.178_179insTTTCTGGTTTCTTTTGTTATGCTCTGA |
| AA Mutation |
p.His60delinsLeuSerGlyPhePheCysTyrAlaLeuAsn(p.H60delinsLSGFFCYALN) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MTCH2
| Mutation ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000302503 |
| Start |
47629016:47629016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.570C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|