| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308919 |
| Start |
988758:988758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756819363
|
| CDS Mutation |
c.1409C>T |
| AA Mutation |
p.Thr470Met(p.T470M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308919 |
| Start |
986654:986654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.676C>A |
| AA Mutation |
p.Leu226Met(p.L226M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000308919 |
| Start |
986776:986776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146145322
|
| CDS Mutation |
c.798C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |