| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102480246:102480246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.547C>G |
| AA Mutation |
p.Leu183Val(p.L183V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102419850:102419850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1448C>T |
| AA Mutation |
p.Ala483Val(p.A483V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102477817:102477817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.661G>A |
| AA Mutation |
p.Gly221Ser(p.G221S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |