Gene >> CST1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304749 |
| Start |
23749108:23749108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.250T>G |
| AA Mutation |
p.Phe84Val(p.F84V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000304749 |
| Start |
23749059:23749059(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.299delA |
| AA Mutation |
p.Asn100ThrfsTer35(p.N100Tfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |