Gene >> ACTB
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331789 |
| Start |
5528500:5528500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.583G>A |
| AA Mutation |
p.Glu195Lys(p.E195K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000331789 |
| Start |
5527781:5527781(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1095delC |
| AA Mutation |
p.Gly366AlafsTer16(p.G366Afs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |