| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377401 |
| Start |
27807779:27807779(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.128A>G |
| AA Mutation |
p.Tyr43Cys(p.Y43C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377401 |
| Start |
27807893:27807893(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.14C>A |
| AA Mutation |
p.Ala5Asp(p.A5D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377401 |
| Start |
27807622:27807622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.285C>G |
| AA Mutation |
p.Ile95Met(p.I95M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |