| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000281043 |
| Start |
15942192:15942192(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.134delC |
| AA Mutation |
p.Pro45ArgfsTer86(p.P45Rfs*86) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000281043 |
| Start |
15945703:15945703(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1005delC |
| AA Mutation |
p.Ser336LeufsTer15(p.S336Lfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000281043 |
| Start |
15942191:15942192(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs780080562
|
| CDS Mutation |
c.134dupC |
| AA Mutation |
p.Glu47GlyfsTer8(p.E47Gfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |