| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253408 |
| Start |
44908128:44908128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267607508
|
| CDS Mutation |
c.1193C>A |
| AA Mutation |
p.Ser398Tyr(p.S398Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253408 |
| Start |
44913382:44913382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.667G>A |
| AA Mutation |
p.Glu223Lys(p.E223K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253408 |
| Start |
44915393:44915393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.94G>A |
| AA Mutation |
p.Gly32Ser(p.G32S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |