| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343939 |
| Start |
83965300:83965300(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.976G>A |
| AA Mutation |
p.Val326Ile(p.V326I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343939 |
| Start |
83965606:83965606(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148300856
|
| CDS Mutation |
c.1282C>T |
| AA Mutation |
p.Arg428Trp(p.R428W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343939 |
| Start |
83960622:83960622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.507C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |