| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000454679 |
| Start |
19498547:19498547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5221G>T |
| AA Mutation |
p.Ala1741Ser(p.A1741S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000454679 |
| Start |
19491564:19491564(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748232359
|
| CDS Mutation |
c.5077C>T |
| AA Mutation |
p.Arg1693Trp(p.R1693W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000454679 |
| Start |
19491532:19491532(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5045A>T |
| AA Mutation |
p.Glu1682Val(p.E1682V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |