| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344908 |
| Start |
127307673:127307673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370911611
|
| CDS Mutation |
c.1766A>G |
| AA Mutation |
p.Tyr589Cys(p.Y589C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344908 |
| Start |
127339013:127339013(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.42G>T |
| AA Mutation |
p.Leu14Phe(p.L14F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344908 |
| Start |
127307681:127307681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1758C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |