| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58555827:58555827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2561G>T |
| AA Mutation |
p.Arg854Leu(p.R854L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000317147 |
| Start |
58534251:58534251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5791A>T |
| AA Mutation |
p.Lys1931Ter(p.K1931*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58538268:58538268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5136-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |