| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000376499 |
| Start |
81593177:81593177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1429C>T |
| AA Mutation |
p.Gln477Ter(p.Q477*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000376499 |
| Start |
81587806:81587806(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1852G>T |
| AA Mutation |
p.Gly618Ter(p.G618*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000376499 |
| Start |
81654038:81654038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.235-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |