| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302472 |
| Start |
40681079:40681079(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.86T>G |
| AA Mutation |
p.Ile29Ser(p.I29S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000302472 |
| Start |
40681080:40681080(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.87C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000302472 |
| Start |
40691892:40691892(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.981G>A |
| AA Mutation |
p.Trp327Ter(p.W327*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |