| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000219479 |
| Start |
399051:399051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.153G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000219479 |
| Start |
400249:400249(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs770464890
|
| CDS Mutation |
c.475delG |
| AA Mutation |
p.Ala159ProfsTer15(p.A159Pfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000219479 |
| Start |
399632:399632(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.333G>A |
| AA Mutation |
p.Trp111Ter(p.W111*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |