| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293502 |
| Start |
56930253:56930253(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.533G>A |
| AA Mutation |
p.Gly178Asp(p.G178D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293502 |
| Start |
56930266:56930266(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142957654
|
| CDS Mutation |
c.520G>A |
| AA Mutation |
p.Val174Ile(p.V174I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293502 |
| Start |
56923927:56923927(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.848C>A |
| AA Mutation |
p.Ala283Asp(p.A283D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |