| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294129 |
| Start |
48679815:48679815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1336G>A |
| AA Mutation |
p.Ala446Thr(p.A446T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294129 |
| Start |
48679094:48679094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1660T>A |
| AA Mutation |
p.Cys554Ser(p.C554S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000294129 |
| Start |
48680179:48680179(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1143G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |