| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367001 |
| Start |
211575692:211575705(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1207_1220delATTAAAGACGTTTT |
| AA Mutation |
p.Ile403SerfsTer2(p.I403Sfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000367001 |
| Start |
211575637:211575638(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1270_1274dupGTAGG |
| AA Mutation |
p.Ser426Ter(p.S426*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |