| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000229812 |
| Start |
36495816:36495816(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs746126744
|
| CDS Mutation |
c.1366delG |
| AA Mutation |
p.Ala456GlnfsTer6(p.A456Qfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000229812 |
| Start |
36497806:36497806(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1146delT |
| AA Mutation |
p.Phe382LeufsTer70(p.F382Lfs*70) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000229812 |
| Start |
36497805:36497806(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1146dupT |
| AA Mutation |
p.Glu383Ter(p.E383*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |