| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301178 |
| Start |
41220727:41220727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.177G>T |
| AA Mutation |
p.Gln59His(p.Q59H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301178 |
| Start |
41242933:41242933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1363C>A |
| AA Mutation |
p.Leu455Ile(p.L455I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000301178 |
| Start |
41259613:41259613(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2394G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |