| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000547338 |
| Start |
7710683:7710683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1132G>T |
| AA Mutation |
p.Val378Phe(p.V378F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000547338 |
| Start |
7676802:7676802(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.959A>T |
| AA Mutation |
p.Gln320Leu(p.Q320L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000547338 |
| Start |
7518312:7518312(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.193C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |