| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000270233 |
| Start |
44812317:44812317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.359A>C |
| AA Mutation |
p.Glu120Ala(p.E120A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000270233 |
| Start |
44819419:44819419(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1547G>A |
| AA Mutation |
p.Ser516Asn(p.S516N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000270233 |
| Start |
44813450:44813450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.614C>A |
| AA Mutation |
p.Thr205Asn(p.T205N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |