| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354552 |
| Start |
99848459:99848459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755588488
|
| CDS Mutation |
c.3217G>A |
| AA Mutation |
p.Ala1073Thr(p.A1073T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354552 |
| Start |
99848956:99848956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2720C>T |
| AA Mutation |
p.Thr907Ile(p.T907I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000354552 |
| Start |
99850361:99850361(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1315C>T |
| AA Mutation |
p.Gln439Ter(p.Q439*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |