| Mutation ID |
18 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000558401 |
| Start |
44711547:44711547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1A>C |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000558401 |
| Start |
44716340:44716340(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.358T>C |
| AA Mutation |
p.Ter120GlnextTer48(p.*120Qext*48) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> B2M
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000558401 |
| Start |
44715443:44715443(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.88T>C |
| AA Mutation |
p.Tyr30His(p.Y30H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000558401 |
| Start |
44715675:44715676(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.321_322delGT |
| AA Mutation |
p.Leu107PhefsTer7(p.L107Ffs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000558401 |
| Start |
44715555:44715555(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.204delA |
| AA Mutation |
p.Val69TrpfsTer34(p.V69Wfs*34) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000558401 |
| Start |
44715703:44715703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.346+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|