| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355303 |
| Start |
70187821:70187821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2778G>T |
| AA Mutation |
p.Glu926Asp(p.E926D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355303 |
| Start |
70149769:70149769(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1318C>T |
| AA Mutation |
p.Leu440Phe(p.L440F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355303 |
| Start |
70103132:70103132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.508G>T |
| AA Mutation |
p.Glu170Ter(p.E170*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |