| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000325455 |
| Start |
101126114:101126114(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1682C>A |
| AA Mutation |
p.Ser561Ter(p.S561*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000325455 |
| Start |
101051563:101051563(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2218C>T |
| AA Mutation |
p.Arg740Ter(p.R740*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000325455 |
| Start |
101091877:101091877(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1790-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |