| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000296575 |
| Start |
144707087:144707087(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.989delA |
| AA Mutation |
p.Asn330IlefsTer7(p.N330Ifs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296575 |
| Start |
144718936:144718936(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1740C>A |
| AA Mutation |
p.Tyr580Ter(p.Y580*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HHIP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296575 |
| Start |
144652609:144652609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.284T>G |
| AA Mutation |
p.Phe95Cys(p.F95C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|