| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263642 |
| Start |
162288317:162288317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.913G>A |
| AA Mutation |
p.Glu305Lys(p.E305K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263642 |
| Start |
162273888:162273888(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs35677292
|
| CDS Mutation |
c.2361C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263642 |
| Start |
162318169:162318169(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.139C>T |
| AA Mutation |
p.Gln47Ter(p.Q47*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |