| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377403 |
| Start |
9264544:9264544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2051G>T |
| AA Mutation |
p.Ser684Ile(p.S684I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377403 |
| Start |
9264676:9264676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370332134
|
| CDS Mutation |
c.2183G>A |
| AA Mutation |
p.Arg728His(p.R728H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377403 |
| Start |
9264825:9264825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772793248
|
| CDS Mutation |
c.2332G>A |
| AA Mutation |
p.Gly778Ser(p.G778S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |