| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000297431 |
| Start |
104200850:104200856(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.268_274delTGTTCTA |
| AA Mutation |
p.Cys90LeufsTer3(p.C90Lfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000297431 |
| Start |
104165244:104165244(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1029delA |
| AA Mutation |
p.Lys343AsnfsTer17(p.K343Nfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000297431 |
| Start |
104168521:104168521(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.829C>T |
| AA Mutation |
p.Gln277Ter(p.Q277*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |