| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000471841 |
| Start |
179364375:179364375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.615C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000471841 |
| Start |
179365127:179365127(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.660delT |
| AA Mutation |
p.His221ThrfsTer3(p.H221Tfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MFN1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000471841 |
| Start |
179378590:179378590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776251112
|
| CDS Mutation |
c.1438T>G |
| AA Mutation |
p.Leu480Val(p.L480V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000471841 |
| Start |
179378344:179378344(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1333T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000471841 |
| Start |
179351926:179351926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.139C>T |
| AA Mutation |
p.Arg47Ter(p.R47*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000471841 |
| Start |
179385641:179385641(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1735G>T |
| AA Mutation |
p.Glu579Ter(p.E579*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|