Gene >> BMP2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378827 |
| Start |
6778859:6778859(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.961C>G |
| AA Mutation |
p.His321Asp(p.H321D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378827 |
| Start |
6770351:6770352(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.231dupC |
| AA Mutation |
p.Tyr78LeufsTer38(p.Y78Lfs*38) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |