| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389301 |
| Start |
89775793:89775793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1849C>G |
| AA Mutation |
p.Leu617Val(p.L617V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389301 |
| Start |
89771792:89771792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2037G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000389301 |
| Start |
89740867:89740867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3766-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |