| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504548 |
| Start |
143599356:143599356(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1453T>G |
| AA Mutation |
p.Phe485Val(p.F485V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504548 |
| Start |
143598165:143598165(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.262C>A |
| AA Mutation |
p.Leu88Met(p.L88M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504548 |
| Start |
143599263:143599263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1360C>A |
| AA Mutation |
p.Leu454Ile(p.L454I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |