| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000232014 |
| Start |
187729369:187729369(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1036G>A |
| AA Mutation |
p.Glu346Lys(p.E346K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000232014 |
| Start |
187729864:187729864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.541G>A |
| AA Mutation |
p.Ala181Thr(p.A181T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000232014 |
| Start |
187731821:187731821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.271T>C |
| AA Mutation |
p.Tyr91His(p.Y91H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |