| Mutation ID |
27 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366923 |
| Start |
220020209:220020210(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1127_1128insTATATTCCCAAAT |
| AA Mutation |
p.Tyr377IlefsTer6(p.Y377Ifs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000366923 |
| Start |
219982845:219982845(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3301-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EPRS
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366923 |
| Start |
219968896:219968896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4449C>A |
| AA Mutation |
p.Phe1483Leu(p.F1483L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000366923 |
| Start |
219979595:219979613(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3714_3732delAGGAACATCACATCATTTA |
| AA Mutation |
p.Thr1240ArgfsTer30(p.T1240Rfs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000366923 |
| Start |
219987405:219987405(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2776-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|