Gene >> CASP8
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000432109 |
| Start |
201286497:201286497(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1343A>G |
| AA Mutation |
p.Tyr448Cys(p.Y448C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000432109 |
| Start |
201272707:201272708(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.483_484delAA |
| AA Mutation |
p.Arg162SerfsTer17(p.R162Sfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |