| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234170 |
| Start |
37228778:37228778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.415G>A |
| AA Mutation |
p.Val139Met(p.V139M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000234170 |
| Start |
37227621:37227621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1572C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000234170 |
| Start |
37227566:37227566(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1627C>T |
| AA Mutation |
p.Arg543Ter(p.R543*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |