| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335867 |
| Start |
58645712:58645712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776288208
|
| CDS Mutation |
c.1089C>G |
| AA Mutation |
p.Asn363Lys(p.N363K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000335867 |
| Start |
58646774:58646774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760763089
|
| CDS Mutation |
c.2151C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000335867 |
| Start |
58646040:58646040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1417G>T |
| AA Mutation |
p.Glu473Ter(p.E473*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |