| Mutation ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000585916 |
| Start |
46846842:46846842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.727-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000585916 |
| Start |
46821002:46821003(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1578_1579insATTAAAAAAAATAAA |
| AA Mutation |
p.Pro526_Pro527insIleLysLysAsnLys(p.P526_P527insIKKNK) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PIAS2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000585916 |
| Start |
46815338:46815338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1660C>A |
| AA Mutation |
p.Leu554Ile(p.L554I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000585916 |
| Start |
46844122:46844122(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.973G>T |
| AA Mutation |
p.Glu325Ter(p.E325*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|