| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000437212 |
| Start |
118104741:118104741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765618644
|
| CDS Mutation |
c.361G>T |
| AA Mutation |
p.Gly121Trp(p.G121W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000437212 |
| Start |
118103226:118103226(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.283A>G |
| AA Mutation |
p.Ser95Gly(p.S95G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000437212 |
| Start |
118115229:118115229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375440943
|
| CDS Mutation |
c.1101C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |