| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000421138 |
| Start |
21491609:21491609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.124C>A |
| AA Mutation |
p.Leu42Met(p.L42M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000421138 |
| Start |
21491534:21491534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754016839
|
| CDS Mutation |
c.199G>A |
| AA Mutation |
p.Ala67Thr(p.A67T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000421138 |
| Start |
21471487:21471487(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1608A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |