| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000247225 |
| Start |
63727359:63727410(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.535_586delGACATCATCCGCTGGCCGAGGCCCGCCTCGCCGCCCGTGGTCAAGTTGGAGG |
| AA Mutation |
p.Asp179SerfsTer40(p.D179Sfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000247225 |
| Start |
63686140:63686141(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1290dupT |
| AA Mutation |
p.Val431CysfsTer19(p.V431Cfs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |