| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250535 |
| Start |
115811185:115811185(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.379G>A |
| AA Mutation |
p.Glu127Lys(p.E127K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250535 |
| Start |
115806479:115806479(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs536229174
|
| CDS Mutation |
c.443C>T |
| AA Mutation |
p.Thr148Met(p.T148M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000250535 |
| Start |
115816248:115816248(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.150C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |