| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331677 |
| Start |
116436852:116436852(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2384C>T |
| AA Mutation |
p.Ala795Val(p.A795V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331677 |
| Start |
116426719:116426719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.562A>T |
| AA Mutation |
p.Met188Leu(p.M188L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000331677 |
| Start |
116435845:116435845(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1377T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |