| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000428670 |
| Start |
89621700:89621700(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1436C>T |
| AA Mutation |
p.Thr479Ile(p.T479I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000428670 |
| Start |
89620174:89620174(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1654C>T |
| AA Mutation |
p.Leu552Phe(p.L552F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000428670 |
| Start |
89603103:89603103(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770458245
|
| CDS Mutation |
c.3000C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |