| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000362010 |
| Start |
157313675:157313675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755248749
|
| CDS Mutation |
c.1956G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000362010 |
| Start |
157265630:157265630(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2161G>T |
| AA Mutation |
p.Gly721Ter(p.G721*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000362010 |
| Start |
157428330:157428331(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.687dupA |
| AA Mutation |
p.Gln230ThrfsTer22(p.Q230Tfs*22) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |