| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000194155 |
| Start |
141096967:141096967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2177G>A |
| AA Mutation |
p.Arg726His(p.R726H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000194155 |
| Start |
141095737:141095737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.947C>T |
| AA Mutation |
p.Thr316Ile(p.T316I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000194155 |
| Start |
141095528:141095528(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149000816
|
| CDS Mutation |
c.738G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |