| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292069 |
| Start |
56442510:56442510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.485A>T |
| AA Mutation |
p.His162Leu(p.H162L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292069 |
| Start |
56441295:56441295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1700G>T |
| AA Mutation |
p.Gly567Val(p.G567V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000292069 |
| Start |
56441249:56441249(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1746C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |