| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000438567 |
| Start |
48229297:48229297(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.343delA |
| AA Mutation |
p.Thr115ProfsTer27(p.T115Pfs*27) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000438567 |
| Start |
48237749:48237749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771100263
|
| CDS Mutation |
c.1363C>T |
| AA Mutation |
p.Gln455Ter(p.Q455*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC5A9
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000438567 |
| Start |
48237758:48237758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368141578
|
| CDS Mutation |
c.1372G>A |
| AA Mutation |
p.Asp458Asn(p.D458N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|