| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394885 |
| Start |
76943828:76943828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.518A>G |
| AA Mutation |
p.Glu173Gly(p.E173G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394885 |
| Start |
76935576:76935576(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.301G>A |
| AA Mutation |
p.Glu101Lys(p.E101K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394885 |
| Start |
76932366:76932366(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.150T>A |
| AA Mutation |
p.Asp50Glu(p.D50E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |