| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312916 |
| Start |
77036715:77036715(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.676G>T |
| AA Mutation |
p.Asp226Tyr(p.D226Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312916 |
| Start |
77046500:77046500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149788789
|
| CDS Mutation |
c.1024A>G |
| AA Mutation |
p.Ile342Val(p.I342V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000312916 |
| Start |
77046445:77046445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.969C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |