| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260947 |
| Start |
214745779:214745779(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1753C>A |
| AA Mutation |
p.Leu585Ile(p.L585I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260947 |
| Start |
214781281:214781281(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751357679
|
| CDS Mutation |
c.593C>T |
| AA Mutation |
p.Ala198Val(p.A198V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260947 |
| Start |
214780694:214780694(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs587782548
|
| CDS Mutation |
c.1180A>G |
| AA Mutation |
p.Thr394Ala(p.T394A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |