| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216223 |
| Start |
37128487:37128487(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1265C>T |
| AA Mutation |
p.Pro422Leu(p.P422L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216223 |
| Start |
37128391:37128391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1361G>A |
| AA Mutation |
p.Arg454Lys(p.R454K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000216223 |
| Start |
37128363:37128363(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766135944
|
| CDS Mutation |
c.1389C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |