Gene >> ABCA5
| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392676 |
| Start |
69264813:69264813(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3237C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392676 |
| Start |
69304685:69304686(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.913dupC |
| AA Mutation |
p.Leu305ProfsTer18(p.L305Pfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |