| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359671 |
| Start |
215384943:215384943(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4373C>T |
| AA Mutation |
p.Ala1458Val(p.A1458V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359671 |
| Start |
215372284:215372284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776023777
|
| CDS Mutation |
c.6066C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359671 |
| Start |
215420713:215420713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1635C>A |
| AA Mutation |
p.Cys545Ter(p.C545*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |