| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000528429 |
| Start |
16046654:16046654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1483A>G |
| AA Mutation |
p.Thr495Ala(p.T495A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000528429 |
| Start |
15986379:15986379(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2008T>C |
| AA Mutation |
p.Tyr670His(p.Y670H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000528429 |
| Start |
16055890:16055890(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766953577
|
| CDS Mutation |
c.1113C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |