| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253339 |
| Start |
149683585:149683585(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1504C>T |
| AA Mutation |
p.Arg502Cys(p.R502C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253339 |
| Start |
149661748:149661748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3374G>A |
| AA Mutation |
p.Arg1125His(p.R1125H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000253339 |
| Start |
149662115:149662115(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3007G>T |
| AA Mutation |
p.Glu1003Ter(p.E1003*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |