| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268171 |
| Start |
90876939:90876939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138939644
|
| CDS Mutation |
c.416C>T |
| AA Mutation |
p.Ala139Val(p.A139V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000268171 |
| Start |
90879442:90879442(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1054-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000268171 |
| Start |
90877616:90877616(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.667+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |