| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316059 |
| Start |
58617689:58617689(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1696G>T |
| AA Mutation |
p.Asp566Tyr(p.D566Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000316059 |
| Start |
58612291:58612291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.871C>T |
| AA Mutation |
p.Arg291Ter(p.R291*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000316059 |
| Start |
58614322:58614322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1081C>T |
| AA Mutation |
p.Arg361Ter(p.R361*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |