| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000217073 |
| Start |
44933109:44933109(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1373delC |
| AA Mutation |
p.Pro458ArgfsTer24(p.P458Rfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000217073 |
| Start |
44924258:44924258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769281636
|
| CDS Mutation |
c.972+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PABPC1L
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217073 |
| Start |
44921724:44921724(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.869G>A |
| AA Mutation |
p.Arg290His(p.R290H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217073 |
| Start |
44930502:44930502(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1015T>C |
| AA Mutation |
p.Cys339Arg(p.C339R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000217073 |
| Start |
44938703:44938703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1806A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|