| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000280904 |
| Start |
31069004:31069004(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs397517399
|
| CDS Mutation |
c.2398delG |
| AA Mutation |
p.Ala800LeufsTer56(p.A800Lfs*56) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000280904 |
| Start |
31089450:31089450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.619G>T |
| AA Mutation |
p.Glu207Ter(p.E207*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DSC2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280904 |
| Start |
31068913:31068913(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2489C>T |
| AA Mutation |
p.Thr830Ile(p.T830I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280904 |
| Start |
31080250:31080250(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1366G>A |
| AA Mutation |
p.Ala456Thr(p.A456T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|