| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000188790 |
| Start |
162188256:162188256(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1727G>T |
| AA Mutation |
p.Gly576Val(p.G576V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000188790 |
| Start |
162203098:162203098(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1095C>A |
| AA Mutation |
p.Tyr365Ter(p.Y365*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000188790 |
| Start |
162173223:162173223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs566100960
|
| CDS Mutation |
c.2035-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |