| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296129 |
| Start |
45112379:45112379(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.359C>G |
| AA Mutation |
p.Thr120Ser(p.T120S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296129 |
| Start |
45091392:45091392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1774A>T |
| AA Mutation |
p.Lys592Ter(p.K592*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296129 |
| Start |
45110662:45110662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.835G>T |
| AA Mutation |
p.Glu279Ter(p.E279*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |