| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393386 |
| Start |
121928199:121928199(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.102A>C |
| AA Mutation |
p.Glu34Asp(p.E34D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393386 |
| Start |
122019171:122019171(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4891T>G |
| AA Mutation |
p.Leu1631Val(p.L1631V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393386 |
| Start |
122012752:122012752(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3706C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |