| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293599 |
| Start |
49962228:49962228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.211G>A |
| AA Mutation |
p.Ala71Thr(p.A71T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293599 |
| Start |
49962154:49962154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199524477
|
| CDS Mutation |
c.137C>T |
| AA Mutation |
p.Ala46Val(p.A46V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000293599 |
| Start |
49963509:49963509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370911310
|
| CDS Mutation |
c.381G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |