| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000275493 |
| Start |
55156586:55156605(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1061_1080delCGAATATTAAACACTTCAAA |
| AA Mutation |
p.Thr354LysfsTer17(p.T354Kfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000275493 |
| Start |
55181305:55181306(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2300_2308dupCCAGCGTGG |
| AA Mutation |
p.Ala767_Val769dup(p.A767_V769dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |