| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000591517 |
| Start |
38609599:38609599(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1003T>C |
| AA Mutation |
p.Cys335Arg(p.C335R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000591517 |
| Start |
38600124:38600124(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1561G>A |
| AA Mutation |
p.Gly521Ser(p.G521S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000591517 |
| Start |
38596444:38596444(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1984C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |