| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000326495 |
| Start |
108800838:108800838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1090G>T |
| AA Mutation |
p.Glu364Ter(p.E364*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326495 |
| Start |
108788222:108788223(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2915dupC |
| AA Mutation |
p.Leu973ThrfsTer23(p.L973Tfs*23) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SSH1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326495 |
| Start |
108799069:108799069(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754103782
|
| CDS Mutation |
c.1280G>A |
| AA Mutation |
p.Arg427His(p.R427H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326495 |
| Start |
108788601:108788601(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2537G>T |
| AA Mutation |
p.Gly846Val(p.G846V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326495 |
| Start |
108805081:108805081(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.929C>T |
| AA Mutation |
p.Ser310Phe(p.S310F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000326495 |
| Start |
108811289:108811289(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs542173852
|
| CDS Mutation |
c.441C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000326495 |
| Start |
108799113:108799113(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs184372660
|
| CDS Mutation |
c.1236C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|