| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318445 |
| Start |
91916407:91916407(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.595G>A |
| AA Mutation |
p.Val199Ile(p.V199I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318445 |
| Start |
91916394:91916394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.582G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000318445 |
| Start |
92104375:92104375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.842T>A |
| AA Mutation |
p.Leu281Ter(p.L281*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |