| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392496 |
| Start |
76387533:76387533(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1106delC |
| AA Mutation |
p.Pro369ArgfsTer56(p.P369Rfs*56) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392496 |
| Start |
76387333:76387333(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.902delG |
| AA Mutation |
p.Arg301ProfsTer44(p.R301Pfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SPHK1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392496 |
| Start |
76387087:76387087(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.656G>C |
| AA Mutation |
p.Gly219Ala(p.G219A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392496 |
| Start |
76387003:76387003(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.572G>A |
| AA Mutation |
p.Arg191His(p.R191H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|