| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368984 |
| Start |
122489612:122489612(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.763A>G |
| AA Mutation |
p.Lys255Glu(p.K255E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368984 |
| Start |
122514267:122514267(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149822364
|
| CDS Mutation |
c.1351G>A |
| AA Mutation |
p.Val451Ile(p.V451I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368984 |
| Start |
122489516:122489516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.667A>G |
| AA Mutation |
p.Thr223Ala(p.T223A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |