| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336689 |
| Start |
23433161:23433161(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199574094
|
| CDS Mutation |
c.2239G>A |
| AA Mutation |
p.Glu747Lys(p.E747K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336689 |
| Start |
23437141:23437141(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1331G>T |
| AA Mutation |
p.Cys444Phe(p.C444F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000336689 |
| Start |
23436971:23436971(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768746081
|
| CDS Mutation |
c.1416C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |