| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296456 |
| Start |
49681892:49681892(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1531delC |
| AA Mutation |
p.His511IlefsTer24(p.H511Ifs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000296456 |
| Start |
49681886:49681886(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1527delG |
| AA Mutation |
p.His511IlefsTer24(p.X509_splice) |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> APEH
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296456 |
| Start |
49682586:49682586(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1733C>T |
| AA Mutation |
p.Ala578Val(p.A578V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296456 |
| Start |
49682674:49682674(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377618583
|
| CDS Mutation |
c.1821C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296456 |
| Start |
49682578:49682578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1725C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|