| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000410053 |
| Start |
179970530:179970530(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1181A>T |
| AA Mutation |
p.Asn394Ile(p.N394I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000410053 |
| Start |
179950863:179950863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1881C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000410053 |
| Start |
179988601:179988605(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.67_71delTATCA |
| AA Mutation |
p.Tyr23GlufsTer10(p.Y23Efs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |