| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000567109 |
| Start |
83678274:83678274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776340601
|
| CDS Mutation |
c.1351G>A |
| AA Mutation |
p.Val451Ile(p.V451I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000567109 |
| Start |
83217357:83217357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.496G>A |
| AA Mutation |
p.Asp166Asn(p.D166N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000567109 |
| Start |
83032182:83032182(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.330G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |