| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000326427 |
| Start |
230875757:230875757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.399G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326427 |
| Start |
230873448:230873448(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.158delG |
| AA Mutation |
p.Gly53AlafsTer66(p.G53Afs*66) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITM2C
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326427 |
| Start |
230877533:230877533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143044408
|
| CDS Mutation |
c.695G>A |
| AA Mutation |
p.Arg232His(p.R232H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326427 |
| Start |
230873513:230873513(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769890271
|
| CDS Mutation |
c.217G>A |
| AA Mutation |
p.Val73Met(p.V73M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|