| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000005558 |
| Start |
112472284:112472284(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1113delA |
| AA Mutation |
p.Lys371AsnfsTer35(p.K371Nfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000005558 |
| Start |
112467983:112467984(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.916dupT |
| AA Mutation |
p.Tyr306LeufsTer2(p.Y306Lfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000005558 |
| Start |
112472283:112472284(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1113dupA |
| AA Mutation |
p.His372ThrfsTer4(p.H372Tfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |