| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324771 |
| Start |
30897026:30897026(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1882G>A |
| AA Mutation |
p.Glu628Lys(p.E628K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324771 |
| Start |
30891450:30891450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.636C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000324771 |
| Start |
30894611:30894611(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1453C>T |
| AA Mutation |
p.Gln485Ter(p.Q485*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |