| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358173 |
| Start |
100817225:100817225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761047725
|
| CDS Mutation |
c.1555G>A |
| AA Mutation |
p.Gly519Ser(p.G519S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358173 |
| Start |
100805677:100805677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2502A>T |
| AA Mutation |
p.Glu834Asp(p.E834D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358173 |
| Start |
100822355:100822355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.724G>T |
| AA Mutation |
p.Asp242Tyr(p.D242Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |