| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000353533 |
| Start |
12113318:12113319(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.772_773delAT |
| AA Mutation |
p.Ile258CysfsTer9(p.I258Cfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000353533 |
| Start |
12113330:12113331(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.783_784delAA |
| AA Mutation |
p.Asp263CysfsTer4(p.D263Cfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000353533 |
| Start |
12110413:12110414(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.676_678dupATT |
| AA Mutation |
p.Ile226dup(p.I226dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |