| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346664 |
| Start |
7690177:7690177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.710G>A |
| AA Mutation |
p.Gly237Glu(p.G237E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346664 |
| Start |
7689326:7689326(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.833G>A |
| AA Mutation |
p.Gly278Asp(p.G278D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346664 |
| Start |
7690464:7690464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200648991
|
| CDS Mutation |
c.563G>A |
| AA Mutation |
p.Arg188Gln(p.R188Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |