| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251507 |
| Start |
174637451:174637451(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1787G>T |
| AA Mutation |
p.Gly596Val(p.G596V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251507 |
| Start |
174683539:174683539(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1842T>G |
| AA Mutation |
p.Asp614Glu(p.D614E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000251507 |
| Start |
174637450:174637450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1786G>T |
| AA Mutation |
p.Gly596Ter(p.G596*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |