| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312493 |
| Start |
77180577:77180577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1350A>G |
| AA Mutation |
p.Ile450Met(p.I450M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312493 |
| Start |
77115069:77115069(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4328C>T |
| AA Mutation |
p.Ser1443Phe(p.S1443F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312493 |
| Start |
77180947:77180947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.980C>A |
| AA Mutation |
p.Ser327Tyr(p.S327Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |