| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000440232 |
| Start |
50409557:50409557(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773665739
|
| CDS Mutation |
c.2045G>A |
| AA Mutation |
p.Arg682Gln(p.R682Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000440232 |
| Start |
50402703:50402703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.932G>C |
| AA Mutation |
p.Arg311Pro(p.R311P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000440232 |
| Start |
50416609:50416609(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2959delG |
| AA Mutation |
p.Asp987ThrfsTer58(p.X987_splice) |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |