| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000398919 |
| Start |
38403653:38403653(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.466G>T |
| AA Mutation |
p.Glu156Ter(p.E156*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000398919 |
| Start |
38383504:38383505(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1359dupT |
| AA Mutation |
p.Ala454CysfsTer19(p.A454Cfs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ERG
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398919 |
| Start |
38423434:38423434(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs528221936
|
| CDS Mutation |
c.385G>A |
| AA Mutation |
p.Glu129Lys(p.E129K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398919 |
| Start |
38400597:38400597(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.743C>T |
| AA Mutation |
p.Thr248Met(p.T248M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398919 |
| Start |
38400591:38400591(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.749G>T |
| AA Mutation |
p.Arg250Ile(p.R250I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000398919 |
| Start |
38403504:38403504(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.613+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|