Gene >> MBL2
| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373968 |
| Start |
52768401:52768401(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760332285
|
| CDS Mutation |
c.483T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000373968 |
| Start |
52768320:52768355(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.529_564delCTCATCAAGGAGGAAGCCTTCCTGGGCATCACTGAT |
| AA Mutation |
p.Leu177_Asp188del(p.L177_D188del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |