| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397997 |
| Start |
69574827:69574827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762081662
|
| CDS Mutation |
c.1399C>T |
| AA Mutation |
p.Arg467Cys(p.R467C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397997 |
| Start |
69574916:69574916(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1488T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000397997 |
| Start |
69574311:69574311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.883C>T |
| AA Mutation |
p.Arg295Ter(p.R295*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |