| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374789 |
| Start |
34111221:34111221(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144433754
|
| CDS Mutation |
c.4019C>T |
| AA Mutation |
p.Ala1340Val(p.A1340V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374789 |
| Start |
34696362:34696362(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.178G>A |
| AA Mutation |
p.Asp60Asn(p.D60N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000374789 |
| Start |
34374895:34374895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767494732
|
| CDS Mutation |
c.1647C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |