| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327097 |
| Start |
118977909:118977909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.740G>C |
| AA Mutation |
p.Gly247Ala(p.G247A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000327097 |
| Start |
118981446:118981446(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.804G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000327097 |
| Start |
118994491:118994491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1534G>T |
| AA Mutation |
p.Glu512Ter(p.E512*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |