| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000308192 |
| Start |
160706449:160706449(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.92delC |
| AA Mutation |
p.Ala31ValfsTer16(p.A31Vfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000308192 |
| Start |
160731145:160731146(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1351_1352insAGTATCCCAGAGTGCTA |
| AA Mutation |
p.Leu451GlnfsTer7(p.L451Qfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000308192 |
| Start |
160731143:160731144(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1349_1350insACT |
| AA Mutation |
p.Asn450delinsLysLeu(p.N450delinsKL) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |