| Mutation ID |
6 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000261304 |
| Start |
87950743:87950744(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1166_1167insATATATAAATTCTTAAATCAAAACTAAAATAAAGT |
| AA Mutation |
p.His389GlnfsTer6(p.H389Qfs*6) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261304 |
| Start |
87945671:87945672(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1551dupT |
| AA Mutation |
p.Thr518TyrfsTer4(p.T518Yfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GALC
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261304 |
| Start |
87988513:87988513(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371523347
|
| CDS Mutation |
c.206G>A |
| AA Mutation |
p.Arg69Gln(p.R69Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|