| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304748 |
| Start |
51746331:51746331(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.664G>A |
| AA Mutation |
p.Gly222Arg(p.G222R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304748 |
| Start |
51746755:51746755(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.240C>A |
| AA Mutation |
p.Phe80Leu(p.F80L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000304748 |
| Start |
51746581:51746581(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs151277630
|
| CDS Mutation |
c.414C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |