| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000600059 |
| Start |
48502543:48502543(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.684delC |
| AA Mutation |
p.Glu229ArgfsTer46(p.E229Rfs*46) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000600059 |
| Start |
48497475:48497475(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3594delC |
| AA Mutation |
p.Lys1199SerfsTer117(p.K1199Sfs*117) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000600059 |
| Start |
48508934:48508934(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.474delC |
| AA Mutation |
p.Ala159ProfsTer5(p.A159Pfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |