| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296440 |
| Start |
48412789:48412789(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4807C>A |
| AA Mutation |
p.Leu1603Met(p.L1603M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296440 |
| Start |
48421727:48421727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1600C>A |
| AA Mutation |
p.Leu534Met(p.L534M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296440 |
| Start |
48421277:48421277(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1761G>A |
| AA Mutation |
p.Met587Ile(p.M587I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |