| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000362072 |
| Start |
113424497:113424497(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.155A>T |
| AA Mutation |
p.Asn52Ile(p.N52I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000362072 |
| Start |
113410802:113410802(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1257C>A |
| AA Mutation |
p.Ser419Arg(p.S419R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000362072 |
| Start |
113418063:113418063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201724929
|
| CDS Mutation |
c.359C>T |
| AA Mutation |
p.Ala120Val(p.A120V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |