| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000513458 |
| Start |
64724471:64724471(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.381delA |
| AA Mutation |
p.Lys129AsnfsTer29(p.K129Nfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000513458 |
| Start |
64728114:64728115(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.270_271delAA |
| AA Mutation |
p.Arg91GlufsTer10(p.R91Efs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000513458 |
| Start |
64724444:64724445(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.407dupA |
| AA Mutation |
p.Lys137GlufsTer12(p.K137Efs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |