| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000342245 |
| Start |
6392056:6392056(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs772960412
|
| CDS Mutation |
c.996delC |
| AA Mutation |
p.Phe333SerfsTer52(p.F333Sfs*52) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000342245 |
| Start |
6390678:6390678(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs750157176
|
| CDS Mutation |
c.84delC |
| AA Mutation |
p.Gly29AspfsTer48(p.G29Dfs*48) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SMPD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342245 |
| Start |
6392033:6392033(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.968G>C |
| AA Mutation |
p.Ser323Thr(p.S323T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|