| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55493220:55493220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1399G>C |
| AA Mutation |
p.Glu467Gln(p.E467Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55489679:55489679(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1035A>T |
| AA Mutation |
p.Glu345Asp(p.E345D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55479512:55479512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.33G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |