| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280904 |
| Start |
31083021:31083021(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.982A>C |
| AA Mutation |
p.Met328Leu(p.M328L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280904 |
| Start |
31068931:31068931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143413607
|
| CDS Mutation |
c.2471C>T |
| AA Mutation |
p.Ser824Leu(p.S824L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000280904 |
| Start |
31082382:31082382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1119C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |