| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394818 |
| Start |
62130315:62130315(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.788C>T |
| AA Mutation |
p.Ser263Phe(p.S263F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394818 |
| Start |
62151930:62151930(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2711G>A |
| AA Mutation |
p.Gly904Asp(p.G904D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000394818 |
| Start |
62150149:62150149(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs564081482
|
| CDS Mutation |
c.2484C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |