| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263025 |
| Start |
30123131:30123131(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.79delG |
| AA Mutation |
p.Glu27ArgfsTer5(p.E27Rfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263025 |
| Start |
30123140:30123140(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.70delG |
| AA Mutation |
p.Val24SerfsTer8(p.V24Sfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263025 |
| Start |
30118484:30118485(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.406_407dupCA |
| AA Mutation |
p.Gln136HisfsTer4(p.Q136Hfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |