| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129496850:129496850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1526G>A |
| AA Mutation |
p.Ser509Asn(p.S509N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371122 |
| Start |
129489032:129489032(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2002A>G |
| AA Mutation |
p.Met668Val(p.M668V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371122 |
| Start |
129508018:129508018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.889A>T |
| AA Mutation |
p.Lys297Ter(p.K297*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |