| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337488 |
| Start |
53382295:53382295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.188G>C |
| AA Mutation |
p.Gly63Ala(p.G63A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337488 |
| Start |
53399784:53399784(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.760A>C |
| AA Mutation |
p.Lys254Gln(p.K254Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337488 |
| Start |
53453109:53453109(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1475G>T |
| AA Mutation |
p.Ser492Ile(p.S492I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |