| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377390 |
| Start |
64766084:64766084(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765841152
|
| CDS Mutation |
c.1654G>A |
| AA Mutation |
p.Ala552Thr(p.A552T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377390 |
| Start |
64770355:64770355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.290G>A |
| AA Mutation |
p.Arg97Gln(p.R97Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000377390 |
| Start |
64769130:64769130(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.780-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |