| ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000381897 |
| Start |
39302549:39302549(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2390delC |
| AA Mutation |
p.Pro797LeufsTer4(p.P797Lfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000381897 |
| Start |
39323341:39323341(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.719delA |
| AA Mutation |
p.Lys240ArgfsTer19(p.K240Rfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000381897 |
| Start |
39308781:39308782(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1739_1740delAA |
| AA Mutation |
p.Lys580SerfsTer9(p.K580Sfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |