| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338144 |
| Start |
130625332:130625332(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1815G>T |
| AA Mutation |
p.Glu605Asp(p.E605D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338144 |
| Start |
130634992:130634992(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767185454
|
| CDS Mutation |
c.1498A>G |
| AA Mutation |
p.Lys500Glu(p.K500E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338144 |
| Start |
130679699:130679699(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.390A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |