Gene >> MAT1A
| ID |
1 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372213 |
| Start |
80280745:80280754(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.331_340delGAGCAGCAAT |
| AA Mutation |
p.Glu111ProfsTer24(p.E111Pfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372213 |
| Start |
80283968:80283986(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.222_240delGGCCATGGTGGACTACCAG |
| AA Mutation |
p.Met74IlefsTer4(p.M74Ifs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |