| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380229 |
| Start |
21141446:21141446(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.125A>G |
| AA Mutation |
p.His42Arg(p.H42R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380229 |
| Start |
21141091:21141091(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765562562
|
| CDS Mutation |
c.480C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380229 |
| Start |
21141079:21141079(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.492G>A |
| AA Mutation |
p.Trp164Ter(p.W164*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |