| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356487 |
| Start |
34394013:34394013(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1009G>A |
| AA Mutation |
p.Ala337Thr(p.A337T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356487 |
| Start |
34396398:34396398(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762765572
|
| CDS Mutation |
c.1160G>A |
| AA Mutation |
p.Gly387Asp(p.G387D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356487 |
| Start |
34377580:34377580(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760767295
|
| CDS Mutation |
c.480C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |