| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252244 |
| Start |
52675309:52675309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1819G>C |
| AA Mutation |
p.Gly607Arg(p.G607R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252244 |
| Start |
52680303:52680303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.46G>T |
| AA Mutation |
p.Gly16Cys(p.G16C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252244 |
| Start |
52678736:52678736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.612G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |